{ "metaData": { "release": "RGD-2024-SEP-12", "dateProduced": "2026-04-03T23:35:46.138-05:00", "dataProvider": { "crossReference": { "pages": [ "homepage" ], "id": "RGD" }, "type": "curated" } }, "data": [ { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581258" }, "publicationId": "PMID:11836586" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:11180" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581270" }, "publicationId": "PMID:16399992" }, "phenotypeStatement": "Reduced FEV1/FVC ratio", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:11181" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581415" }, "publicationId": "PMID:15547298" }, "phenotypeStatement": "Abnormal circulating cholesterol concentration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:11290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581723" }, "publicationId": "PMID:16579981" }, "phenotypeStatement": "Arterial stenosis", "dateAssigned": "2006-10-19T14:40:25.000-05:00", "objectId": "HGNC:6344" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581778" }, "publicationId": "PMID:16061733" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "2006-10-25T00:00:00.000-05:00", "objectId": "HGNC:6522" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581778" }, "publicationId": "PMID:16061733" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2006-10-25T00:00:00.000-05:00", "objectId": "HGNC:6522" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2311139" }, "publicationId": "PMID:18564365" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2009-06-26T14:43:54.000-05:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2311139" }, "publicationId": "PMID:18564365" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2009-06-26T14:43:54.000-05:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2311139" }, "publicationId": "PMID:18564365" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2009-06-26T14:43:54.000-05:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012184", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2311140" }, "publicationId": "PMID:18490929" }, "phenotypeStatement": "Increased HDL cholesterol concentration", "dateAssigned": "2009-06-26T15:11:17.000-05:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394848" }, "publicationId": "PMID:19234343" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-13T16:47:17.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394848" }, "publicationId": "PMID:19234343" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-02-13T16:47:17.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394848" }, "publicationId": "PMID:19234343" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-13T16:47:17.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012153", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506790" }, "publicationId": "PMID:20939869" }, "phenotypeStatement": "Hypotriglyceridemia", "dateAssigned": "2018-02-15T16:35:41.000-06:00", "objectId": "HGNC:7965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040217", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2301876" }, "publicationId": "PMID:15173029" }, "phenotypeStatement": "Elevated hemoglobin A1c", "dateAssigned": "2008-11-05T14:26:23.000-06:00", "objectId": "HGNC:4195" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006279", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2301876" }, "publicationId": "PMID:15173029" }, "phenotypeStatement": "Beta-cell dysfunction", "dateAssigned": "2008-11-05T14:31:12.000-06:00", "objectId": "HGNC:4195" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1624977" }, "publicationId": "PMID:8968850" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "2007-05-15T11:17:07.000-05:00", "objectId": "HGNC:12517" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1624978" }, "publicationId": "PMID:16953057" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2007-05-15T11:17:54.000-05:00", "objectId": "HGNC:12517" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626113" }, "publicationId": "PMID:12404108" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2007-07-12T12:23:38.000-05:00", "objectId": "HGNC:2169" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626113" }, "publicationId": "PMID:12404108" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "2007-07-12T12:23:38.000-05:00", "objectId": "HGNC:2169" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0045082", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1642723" }, "publicationId": "PMID:15150650" }, "phenotypeStatement": "Decreased body mass index", "dateAssigned": "2007-10-10T16:17:46.000-05:00", "objectId": "HGNC:9670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394798" }, "publicationId": "PMID:23566828" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-12T17:37:30.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394798" }, "publicationId": "PMID:23566828" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-12T17:37:30.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394798" }, "publicationId": "PMID:23566828" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-02-12T17:37:30.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2301876" }, "publicationId": "PMID:15173029" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2008-11-05T14:28:45.000-06:00", "objectId": "HGNC:4195" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580970" }, "publicationId": "PMID:12215463" }, "phenotypeStatement": "Abnormal systemic blood pressure", "dateAssigned": "2007-10-12T15:36:00.000-05:00", "objectId": "HGNC:10810" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626127" }, "publicationId": "PMID:15220217" }, "phenotypeStatement": "Abdominal obesity", "dateAssigned": "2007-07-13T11:33:35.000-05:00", "objectId": "HGNC:6080" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002615", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1642723" }, "publicationId": "PMID:15150650" }, "phenotypeStatement": "Hypotension", "dateAssigned": "2007-10-10T16:17:46.000-05:00", "objectId": "HGNC:9670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000962", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600168" }, "publicationId": "PMID:7512983" }, "phenotypeStatement": "Hyperkeratosis", "dateAssigned": "2007-03-01T14:35:24.000-06:00", "objectId": "HGNC:6413" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2314626" }, "publicationId": "PMID:18726866" }, "phenotypeStatement": "Hypoinsulinemia", "dateAssigned": "2009-11-20T15:31:39.000-06:00", "objectId": "HGNC:2085" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1641832" }, "publicationId": "PMID:14691196" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2007-08-23T13:22:34.000-05:00", "objectId": "HGNC:4464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000499", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364877" }, "publicationId": "PMID:18824733" }, "phenotypeStatement": "Abnormal eyelash morphology", "dateAssigned": "2018-02-01T14:43:45.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000539", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553208" }, "publicationId": "PMID:9855162" }, "phenotypeStatement": "Abnormality of refraction", "dateAssigned": "2018-04-05T12:04:57.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553208" }, "publicationId": "PMID:9855162" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-04-05T12:04:57.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394800" }, "publicationId": "PMID:23517641" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-12T17:54:21.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394800" }, "publicationId": "PMID:23517641" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-12T17:54:21.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001138", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394800" }, "publicationId": "PMID:23517641" }, "phenotypeStatement": "Optic neuropathy", "dateAssigned": "2018-02-12T17:54:21.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011024", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158050" }, "publicationId": "PMID:15090455" }, "phenotypeStatement": "Abnormality of the gastrointestinal tract", "dateAssigned": "2018-03-16T11:15:52.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7296921" }, "publicationId": "PMID:17220215" }, "phenotypeStatement": "Growth delay", "dateAssigned": "2018-01-31T16:27:25.000-06:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000271", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7296921" }, "publicationId": "PMID:17220215" }, "phenotypeStatement": "Abnormality of the face", "dateAssigned": "2018-01-31T16:27:25.000-06:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011842", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7296921" }, "publicationId": "PMID:17220215" }, "phenotypeStatement": "Abnormal skeletal morphology", "dateAssigned": "2018-01-31T16:27:25.000-06:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7296921" }, "publicationId": "PMID:17220215" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2018-01-31T16:27:25.000-06:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394694" }, "publicationId": "PMID:18682806" }, "phenotypeStatement": "Abnormal morphology of the choroidal vasculature", "dateAssigned": "2018-02-07T13:46:46.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001138", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800695" }, "publicationId": "PMID:17563717" }, "phenotypeStatement": "Optic neuropathy", "dateAssigned": "2018-03-13T17:38:48.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030605", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7387295" }, "publicationId": "PMID:20157352" }, "phenotypeStatement": "Abnormal indocyanine green angiography", "dateAssigned": "2018-02-07T12:00:17.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001103", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7387295" }, "publicationId": "PMID:20157352" }, "phenotypeStatement": "Abnormal macular morphology", "dateAssigned": "2018-02-07T12:00:17.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030604", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7387295" }, "publicationId": "PMID:20157352" }, "phenotypeStatement": "Abnormal fundus fluorescein angiography", "dateAssigned": "2018-02-07T12:00:17.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003581", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800695" }, "publicationId": "PMID:17563717" }, "phenotypeStatement": "Adult onset", "dateAssigned": "2018-03-13T17:38:48.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001097", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483566" }, "publicationId": "PMID:8468491" }, "phenotypeStatement": "Keratoconjunctivitis sicca", "dateAssigned": "2018-02-21T16:39:33.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000217", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483566" }, "publicationId": "PMID:8468491" }, "phenotypeStatement": "Xerostomia", "dateAssigned": "2018-02-21T16:39:33.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003493", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483566" }, "publicationId": "PMID:8468491" }, "phenotypeStatement": "Antinuclear antibody positivity", "dateAssigned": "2018-02-21T16:39:33.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001952", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2307297" }, "publicationId": "PMID:11687612" }, "phenotypeStatement": "Glucose intolerance", "dateAssigned": "2009-05-26T14:29:55.000-05:00", "objectId": "HGNC:2592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031798", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580231" }, "publicationId": "PMID:11119019" }, "phenotypeStatement": "Elevated circulating apolipoprotein B concentration", "dateAssigned": "2011-11-29T15:57:37.000-06:00", "objectId": "HGNC:9232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025035", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11081155" }, "publicationId": "PMID:16098079" }, "phenotypeStatement": "Abnormal proerythroblast morphology", "dateAssigned": "2018-02-28T18:26:41.000-06:00", "objectId": "HGNC:1713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580231" }, "publicationId": "PMID:11119019" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2011-11-29T15:57:07.000-06:00", "objectId": "HGNC:9232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031423", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210520" }, "publicationId": "PMID:18951431" }, "phenotypeStatement": "Small cerebellar cortex", "dateAssigned": "2018-02-28T17:59:58.000-06:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394788" }, "publicationId": "PMID:9792882" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-12T14:45:56.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001138", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394788" }, "publicationId": "PMID:9792882" }, "phenotypeStatement": "Optic neuropathy", "dateAssigned": "2018-02-12T14:45:56.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394788" }, "publicationId": "PMID:9792882" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-12T14:45:56.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001626", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246901" }, "publicationId": "PMID:20604744" }, "phenotypeStatement": "Abnormality of the cardiovascular system", "dateAssigned": "2018-01-31T11:54:22.000-06:00", "objectId": "HGNC:15633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011452", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364875" }, "publicationId": "PMID:22471616" }, "phenotypeStatement": "Functional abnormality of the middle ear", "dateAssigned": "2018-02-01T12:43:47.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000502", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365096" }, "publicationId": "PMID:9683867" }, "phenotypeStatement": "Abnormal conjunctiva morphology", "dateAssigned": "2018-02-06T14:53:37.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365097" }, "publicationId": "PMID:19728932" }, "phenotypeStatement": "Abnormal morphology of the choroidal vasculature", "dateAssigned": "2018-02-06T14:57:09.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242744" }, "publicationId": "PMID:22777106" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2018-01-24T17:06:31.000-06:00", "objectId": "HGNC:9606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242744" }, "publicationId": "PMID:22777106" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2018-01-24T17:06:31.000-06:00", "objectId": "HGNC:9606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000488", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242744" }, "publicationId": "PMID:22777106" }, "phenotypeStatement": "Retinopathy", "dateAssigned": "2018-01-24T17:06:31.000-06:00", "objectId": "HGNC:9606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045557" }, "publicationId": "PMID:22305528" }, "phenotypeStatement": "Malar flattening", "dateAssigned": "2018-07-24T17:55:42.000-05:00", "objectId": "HGNC:30858" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011897", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482224" }, "publicationId": "PMID:20549317" }, "phenotypeStatement": "Increased total neutrophil count", "dateAssigned": "2021-07-01T15:21:17.000-05:00", "objectId": "HGNC:6155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011001", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11065218" }, "publicationId": "PMID:12579474" }, "phenotypeStatement": "Increased bone mineral density", "dateAssigned": "2017-03-15T10:09:15.000-05:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626226" }, "publicationId": "PMID:14724656" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2009-10-14T10:35:20.000-05:00", "objectId": "HGNC:2357" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000639", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491830" }, "publicationId": "PMID:22734612" }, "phenotypeStatement": "Nystagmus", "dateAssigned": "2018-05-17T15:20:40.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491830" }, "publicationId": "PMID:22734612" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2018-05-17T15:20:40.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000613", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491830" }, "publicationId": "PMID:22734612" }, "phenotypeStatement": "Photophobia", "dateAssigned": "2018-05-17T15:20:40.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000505", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491830" }, "publicationId": "PMID:22734612" }, "phenotypeStatement": "Visual impairment", "dateAssigned": "2018-05-17T15:20:40.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010979", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2307208" }, "publicationId": "PMID:18305138" }, "phenotypeStatement": "Abnormality of lipoprotein cholesterol concentration", "dateAssigned": "2009-05-21T16:04:53.000-05:00", "objectId": "HGNC:1663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030534", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394787" }, "publicationId": "PMID:23886590" }, "phenotypeStatement": "Abnormal best corrected visual acuity test", "dateAssigned": "2018-02-12T13:30:13.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394787" }, "publicationId": "PMID:23886590" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-12T13:30:13.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394787" }, "publicationId": "PMID:23886590" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-02-12T13:30:13.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40400911" }, "publicationId": "PMID:27560987" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-03T21:12:26.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40400918" }, "publicationId": "PMID:26820907" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-03T22:10:34.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248447" }, "publicationId": "PMID:19675531" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2018-01-31T15:51:01.000-06:00", "objectId": "HGNC:3020" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012101", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248447" }, "publicationId": "PMID:19675531" }, "phenotypeStatement": "Decreased serum creatinine", "dateAssigned": "2018-01-31T15:51:01.000-06:00", "objectId": "HGNC:3020" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175555" }, "publicationId": "PMID:19878917" }, "phenotypeStatement": "Abnormal electroretinogram", "dateAssigned": "2018-01-02T15:31:19.000-06:00", "objectId": "HGNC:18084" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175555" }, "publicationId": "PMID:19878917" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2018-01-02T15:31:19.000-06:00", "objectId": "HGNC:18084" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175557" }, "publicationId": "PMID:22162417" }, "phenotypeStatement": "Headache", "dateAssigned": "2018-01-02T16:40:31.000-06:00", "objectId": "HGNC:12716" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175557" }, "publicationId": "PMID:22162417" }, "phenotypeStatement": "Headache", "dateAssigned": "2018-01-02T16:57:03.000-06:00", "objectId": "HGNC:18084" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7183081" }, "publicationId": "PMID:20042636" }, "phenotypeStatement": "Abnormal large intestine morphology", "dateAssigned": "2018-01-02T17:54:04.000-06:00", "objectId": "HGNC:18084" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005145", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12902623" }, "publicationId": "PMID:18758826" }, "phenotypeStatement": "Coronary artery stenosis", "dateAssigned": "2017-05-09T15:28:16.000-05:00", "objectId": "HGNC:18253" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902826" }, "publicationId": "PMID:30056167" }, "phenotypeStatement": "Viremia", "dateAssigned": "2020-12-12T23:21:54.000-06:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11098258" }, "publicationId": "PMID:18159245" }, "phenotypeStatement": "Abnormal EKG", "dateAssigned": "2017-03-16T14:53:11.000-05:00", "objectId": "HGNC:7577" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246898" }, "publicationId": "PMID:21108742" }, "phenotypeStatement": "Abnormality of urine homeostasis", "dateAssigned": "2018-01-31T10:53:18.000-06:00", "objectId": "HGNC:11847" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246898" }, "publicationId": "PMID:21108742" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2018-01-31T10:53:18.000-06:00", "objectId": "HGNC:11847" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246906" }, "publicationId": "PMID:19543401" }, "phenotypeStatement": "Bacteriuria", "dateAssigned": "2018-01-31T13:48:34.000-06:00", "objectId": "HGNC:11851" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246906" }, "publicationId": "PMID:19543401" }, "phenotypeStatement": "Abnormality of the bladder", "dateAssigned": "2018-01-31T13:48:34.000-06:00", "objectId": "HGNC:11851" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030892", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344876" }, "publicationId": "PMID:25956626" }, "phenotypeStatement": "Deep cerebral white matter hyperintensities", "dateAssigned": "2016-07-07T10:44:58.000-05:00", "objectId": "HGNC:2032" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000079", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246906" }, "publicationId": "PMID:19543401" }, "phenotypeStatement": "Abnormality of the urinary system", "dateAssigned": "2018-01-31T12:00:56.000-06:00", "objectId": "HGNC:11850" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242025" }, "publicationId": "PMID:22684233" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2016-07-07T15:56:13.000-05:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7387285" }, "publicationId": "PMID:1740315" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "2013-10-28T13:06:07.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12904045" }, "publicationId": "PMID:18498376" }, "phenotypeStatement": "Posterior embryotoxon", "dateAssigned": "2017-05-16T12:49:46.000-05:00", "objectId": "HGNC:3800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007676", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12904045" }, "publicationId": "PMID:18498376" }, "phenotypeStatement": "Hypoplasia of the iris", "dateAssigned": "2017-05-16T12:49:46.000-05:00", "objectId": "HGNC:3800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000593", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12904045" }, "publicationId": "PMID:18498376" }, "phenotypeStatement": "Abnormal anterior chamber morphology", "dateAssigned": "2017-05-16T12:49:46.000-05:00", "objectId": "HGNC:3800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100533", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364913" }, "publicationId": "PMID:16899524" }, "phenotypeStatement": "Inflammatory abnormality of the eye", "dateAssigned": "2018-02-01T15:53:12.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242750" }, "publicationId": "PMID:12046039" }, "phenotypeStatement": "Abnormality of the parathyroid physiology", "dateAssigned": "2018-01-24T17:26:00.000-06:00", "objectId": "HGNC:9606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8693346" }, "publicationId": "PMID:15944651" }, "phenotypeStatement": "Dementia", "dateAssigned": "2016-07-07T17:27:46.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12792277" }, "publicationId": "PMID:11719191" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2017-03-15T09:54:07.000-05:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000952", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11341732" }, "publicationId": "PMID:15521008" }, "phenotypeStatement": "Jaundice", "dateAssigned": "2016-07-05T12:03:19.000-05:00", "objectId": "HGNC:2032" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11341732" }, "publicationId": "PMID:15521008" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2016-07-05T12:03:19.000-05:00", "objectId": "HGNC:2032" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11341732" }, "publicationId": "PMID:15521008" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2016-07-05T12:03:19.000-05:00", "objectId": "HGNC:2032" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246917" }, "publicationId": "PMID:17548585" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2018-01-31T15:33:13.000-06:00", "objectId": "HGNC:11847" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000951", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246917" }, "publicationId": "PMID:17548585" }, "phenotypeStatement": "Abnormality of the skin", "dateAssigned": "2018-01-31T15:33:13.000-06:00", "objectId": "HGNC:11847" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012211", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246906" }, "publicationId": "PMID:19543401" }, "phenotypeStatement": "Abnormal renal physiology", "dateAssigned": "2018-01-31T12:38:13.000-06:00", "objectId": "HGNC:11847" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246906" }, "publicationId": "PMID:19543401" }, "phenotypeStatement": "Bacteriuria", "dateAssigned": "2018-01-31T12:38:13.000-06:00", "objectId": "HGNC:11847" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364873" }, "publicationId": "PMID:16101830" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2018-01-31T17:57:33.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002633", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364873" }, "publicationId": "PMID:16101830" }, "phenotypeStatement": "Vasculitis", "dateAssigned": "2018-01-31T17:57:33.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364873" }, "publicationId": "PMID:16101830" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2018-01-31T17:57:33.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364873" }, "publicationId": "PMID:16101830" }, "phenotypeStatement": "Genital ulcers", "dateAssigned": "2018-01-31T17:57:33.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394789" }, "publicationId": "PMID:9535666" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-12T17:24:36.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001138", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394789" }, "publicationId": "PMID:9535666" }, "phenotypeStatement": "Optic neuropathy", "dateAssigned": "2018-02-12T17:24:36.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394789" }, "publicationId": "PMID:9535666" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-12T17:24:36.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000539", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12902630" }, "publicationId": "PMID:18846214" }, "phenotypeStatement": "Abnormality of refraction", "dateAssigned": "2017-05-09T17:05:44.000-05:00", "objectId": "HGNC:18253" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011355", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364874" }, "publicationId": "PMID:19018717" }, "phenotypeStatement": "Localized skin lesion", "dateAssigned": "2018-02-02T17:46:39.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001396", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11341732" }, "publicationId": "PMID:15521008" }, "phenotypeStatement": "Cholestasis", "dateAssigned": "2016-07-05T12:03:19.000-05:00", "objectId": "HGNC:2032" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11341732" }, "publicationId": "PMID:15521008" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2016-07-05T12:03:19.000-05:00", "objectId": "HGNC:2032" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030534", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394801" }, "publicationId": "PMID:23453510" }, "phenotypeStatement": "Abnormal best corrected visual acuity test", "dateAssigned": "2018-02-12T18:08:22.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394801" }, "publicationId": "PMID:23453510" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-12T18:08:22.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394801" }, "publicationId": "PMID:23453510" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-02-12T18:08:22.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482224" }, "publicationId": "PMID:20549317" }, "phenotypeStatement": "Increased total leukocyte count", "dateAssigned": "2021-07-01T15:21:23.000-05:00", "objectId": "HGNC:6155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364803" }, "publicationId": "PMID:23554706" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2018-01-31T17:35:03.000-06:00", "objectId": "HGNC:9359" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011506", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364917" }, "publicationId": "PMID:14522093" }, "phenotypeStatement": "Choroidal neovascularization", "dateAssigned": "2018-02-01T17:04:38.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007791", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364917" }, "publicationId": "PMID:14522093" }, "phenotypeStatement": "Patchy atrophy of the retinal pigment epithelium", "dateAssigned": "2018-02-01T17:04:38.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242570" }, "publicationId": "PMID:20185929" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2018-01-24T16:24:29.000-06:00", "objectId": "HGNC:320" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011037", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242570" }, "publicationId": "PMID:20185929" }, "phenotypeStatement": "Decreased urine output", "dateAssigned": "2018-01-24T16:24:30.000-06:00", "objectId": "HGNC:320" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7243100" }, "publicationId": "PMID:20383146" }, "phenotypeStatement": "Elevated circulating creatinine concentration", "dateAssigned": "2018-01-25T15:04:47.000-06:00", "objectId": "HGNC:11019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7245989" }, "publicationId": "PMID:22787315" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2018-01-26T12:09:04.000-06:00", "objectId": "HGNC:15633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031593", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13602006" }, "publicationId": "PMID:23139255" }, "phenotypeStatement": "Abnormal PR interval", "dateAssigned": "2018-05-29T11:50:06.000-05:00", "objectId": "HGNC:6145" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248452" }, "publicationId": "PMID:17353515" }, "phenotypeStatement": "Abnormality of urine homeostasis", "dateAssigned": "2018-01-31T15:57:08.000-06:00", "objectId": "HGNC:3020" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000736", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248596" }, "publicationId": "PMID:17171658" }, "phenotypeStatement": "Short attention span", "dateAssigned": "2018-01-31T16:08:48.000-06:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100022", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248596" }, "publicationId": "PMID:17171658" }, "phenotypeStatement": "Abnormality of movement", "dateAssigned": "2018-01-31T16:08:48.000-06:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003084", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364765" }, "publicationId": "PMID:22948905" }, "phenotypeStatement": "Recurrent long bone fractures", "dateAssigned": "2018-01-31T16:55:02.000-06:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552679" }, "publicationId": "PMID:22001178" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2014-04-25T10:03:36.000-05:00", "objectId": "HGNC:4323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002748", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242923" }, "publicationId": "PMID:20335586" }, "phenotypeStatement": "Rickets", "dateAssigned": "2018-01-24T18:00:36.000-06:00", "objectId": "HGNC:11019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242923" }, "publicationId": "PMID:20335586" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2018-01-24T18:00:36.000-06:00", "objectId": "HGNC:11019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000938", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242923" }, "publicationId": "PMID:20335586" }, "phenotypeStatement": "Osteopenia", "dateAssigned": "2018-01-24T18:00:36.000-06:00", "objectId": "HGNC:11019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002653", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242923" }, "publicationId": "PMID:20335586" }, "phenotypeStatement": "Bone pain", "dateAssigned": "2018-01-24T18:00:36.000-06:00", "objectId": "HGNC:11019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553302" }, "publicationId": "PMID:26745093" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2020-04-27T09:18:03.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242923" }, "publicationId": "PMID:20335586" }, "phenotypeStatement": "Muscle weakness", "dateAssigned": "2018-01-24T18:00:36.000-06:00", "objectId": "HGNC:11019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553302" }, "publicationId": "PMID:26745093" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2020-04-27T09:18:03.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246889" }, "publicationId": "PMID:18776126" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2018-01-26T14:56:15.000-06:00", "objectId": "HGNC:15633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329845878" }, "publicationId": "PMID:18496666" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-06-05T13:38:17.000-05:00", "objectId": "HGNC:9922" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003493", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661708" }, "publicationId": "PMID:18273036" }, "phenotypeStatement": "Antinuclear antibody positivity", "dateAssigned": "2019-09-18T12:56:29.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001097", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661708" }, "publicationId": "PMID:18273036" }, "phenotypeStatement": "Keratoconjunctivitis sicca", "dateAssigned": "2019-09-18T12:56:30.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000217", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661708" }, "publicationId": "PMID:18273036" }, "phenotypeStatement": "Xerostomia", "dateAssigned": "2019-09-18T12:56:29.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7244142" }, "publicationId": "PMID:20353610" }, "phenotypeStatement": "Albuminuria", "dateAssigned": "2018-01-25T16:03:57.000-06:00", "objectId": "HGNC:320" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7244142" }, "publicationId": "PMID:20353610" }, "phenotypeStatement": "Elevated circulating creatinine concentration", "dateAssigned": "2018-01-25T16:03:57.000-06:00", "objectId": "HGNC:320" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7244187" }, "publicationId": "PMID:21533139" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2018-01-25T17:12:30.000-06:00", "objectId": "HGNC:320" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553302" }, "publicationId": "PMID:26745093" }, "phenotypeStatement": "Neoplasm of the liver", "dateAssigned": "2020-04-27T09:18:03.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000502", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364877" }, "publicationId": "PMID:18824733" }, "phenotypeStatement": "Abnormal conjunctiva morphology", "dateAssigned": "2018-02-01T14:41:01.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004755", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12792281" }, "publicationId": "PMID:26284702" }, "phenotypeStatement": "Supraventricular tachycardia", "dateAssigned": "2017-03-15T15:17:22.000-05:00", "objectId": "HGNC:7576" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12904728" }, "publicationId": "PMID:12838518" }, "phenotypeStatement": "Seizure", "dateAssigned": "2017-05-19T13:51:34.000-05:00", "objectId": "HGNC:2714" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12904728" }, "publicationId": "PMID:12838518" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2017-05-19T13:51:34.000-05:00", "objectId": "HGNC:2714" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000736", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248606" }, "publicationId": "PMID:11431226" }, "phenotypeStatement": "Short attention span", "dateAssigned": "2018-01-31T16:10:18.000-06:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100022", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248606" }, "publicationId": "PMID:11431226" }, "phenotypeStatement": "Abnormality of movement", "dateAssigned": "2018-01-31T16:10:18.000-06:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100533", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364788" }, "publicationId": "PMID:23831258" }, "phenotypeStatement": "Inflammatory abnormality of the eye", "dateAssigned": "2018-01-31T17:12:11.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030532", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364788" }, "publicationId": "PMID:23831258" }, "phenotypeStatement": "Visual acuity test abnormality", "dateAssigned": "2018-01-31T17:12:11.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000245", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364876" }, "publicationId": "PMID:18922348" }, "phenotypeStatement": "Abnormal paranasal sinus morphology", "dateAssigned": "2018-02-01T13:42:26.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364924" }, "publicationId": "PMID:12372094" }, "phenotypeStatement": "Venous thrombosis", "dateAssigned": "2018-02-01T17:51:02.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002633", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364924" }, "publicationId": "PMID:12372094" }, "phenotypeStatement": "Vasculitis", "dateAssigned": "2018-02-01T17:51:02.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925158" }, "publicationId": "PMID:24816919" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-05-13T14:11:23.000-05:00", "objectId": "HGNC:31533" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100710", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910980" }, "publicationId": "PMID:27501527" }, "phenotypeStatement": "Impulsivity", "dateAssigned": "2017-06-30T16:38:43.000-05:00", "objectId": "HGNC:18141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7495818" }, "publicationId": "PMID:19752172" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-03-05T15:08:02.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364918" }, "publicationId": "PMID:12622781" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2018-02-01T17:16:16.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008046", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364920" }, "publicationId": "PMID:12608042" }, "phenotypeStatement": "Abnormal retinal vascular morphology", "dateAssigned": "2018-02-01T17:28:55.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364918" }, "publicationId": "PMID:12622781" }, "phenotypeStatement": "Genital ulcers", "dateAssigned": "2018-02-01T17:16:16.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364918" }, "publicationId": "PMID:12622781" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2018-02-01T17:16:16.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012317", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364914" }, "publicationId": "PMID:8733445" }, "phenotypeStatement": "Sacroiliac arthritis", "dateAssigned": "2018-02-01T16:03:17.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364915" }, "publicationId": "PMID:15855027" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2018-02-01T16:19:16.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394745" }, "publicationId": "PMID:22893068" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-02-08T16:16:32.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000359", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364921" }, "publicationId": "PMID:12542204" }, "phenotypeStatement": "Abnormality of the inner ear", "dateAssigned": "2018-02-01T17:40:56.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032435", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482224" }, "publicationId": "PMID:20549317" }, "phenotypeStatement": "Neonatal omphalitis", "dateAssigned": "2021-07-01T15:21:10.000-05:00", "objectId": "HGNC:6155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344289" }, "publicationId": "PMID:26741362" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-04T23:28:30.000-06:00", "objectId": "HGNC:18365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548518" }, "publicationId": "PMID:23288993" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2019-05-08T12:58:14.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548518" }, "publicationId": "PMID:23288993" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2019-05-08T12:58:14.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011227", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6767569" }, "publicationId": "PMID:20668462" }, "phenotypeStatement": "Elevated circulating C-reactive protein concentration", "dateAssigned": "2018-02-23T14:22:14.000-06:00", "objectId": "HGNC:320" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031540", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483589" }, "publicationId": "PMID:9008223" }, "phenotypeStatement": "Linear IgG deposits along the epidermal basement membrane zone", "dateAssigned": "2018-02-23T14:49:39.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008066", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483589" }, "publicationId": "PMID:9008223" }, "phenotypeStatement": "Abnormal blistering of the skin", "dateAssigned": "2018-02-23T14:49:39.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031425", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210789" }, "publicationId": "PMID:23155691" }, "phenotypeStatement": "Elevated circulating beta-CTX concentration", "dateAssigned": "2018-02-28T08:34:37.000-06:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364872" }, "publicationId": "PMID:23808178" }, "phenotypeStatement": "Granulomatosis", "dateAssigned": "2018-01-31T17:46:35.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13525009" }, "publicationId": "PMID:29212896" }, "phenotypeStatement": "Abnormal EKG", "dateAssigned": "2018-05-07T12:36:04.000-05:00", "objectId": "HGNC:2770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925986" }, "publicationId": "PMID:17845309" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-05-25T12:42:08.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030339", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9685133" }, "publicationId": "PMID:23936060" }, "phenotypeStatement": "Decreased circulating gonadotropin concentration", "dateAssigned": "2018-07-11T11:50:11.000-05:00", "objectId": "HGNC:4419" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007359", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11568595" }, "publicationId": "PMID:27292316" }, "phenotypeStatement": "Focal-onset seizure", "dateAssigned": "2017-05-19T10:20:50.000-05:00", "objectId": "HGNC:2714" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11568595" }, "publicationId": "PMID:27292316" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2017-05-19T10:20:50.000-05:00", "objectId": "HGNC:2714" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12904698" }, "publicationId": "PMID:17407387" }, "phenotypeStatement": "Large for gestational age", "dateAssigned": "2017-05-18T10:04:46.000-05:00", "objectId": "HGNC:5024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001943", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12904698" }, "publicationId": "PMID:17407387" }, "phenotypeStatement": "Hypoglycemia", "dateAssigned": "2017-05-18T10:04:46.000-05:00", "objectId": "HGNC:5024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12903989" }, "publicationId": "PMID:22810233" }, "phenotypeStatement": "Ascending tubular aorta aneurysm", "dateAssigned": "2017-05-24T18:20:49.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671413" }, "publicationId": "PMID:21145801" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2020-04-27T08:49:44.000-05:00", "objectId": "HGNC:2606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002613", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671416" }, "publicationId": "PMID:28395724" }, "phenotypeStatement": "Biliary cirrhosis", "dateAssigned": "2020-04-27T09:02:47.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657073" }, "publicationId": "PMID:22705826" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2018-04-16T14:03:39.000-05:00", "objectId": "HGNC:40" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38676265" }, "publicationId": "PMID:30452889" }, "phenotypeStatement": "Fever", "dateAssigned": "2020-09-16T23:24:36.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002366", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655862" }, "publicationId": "PMID:8815157" }, "phenotypeStatement": "Abnormal lower motor neuron morphology", "dateAssigned": "2018-04-13T12:57:01.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011483", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657029" }, "publicationId": "PMID:15051220" }, "phenotypeStatement": "Anterior synechiae of the anterior chamber", "dateAssigned": "2018-04-13T17:24:34.000-05:00", "objectId": "HGNC:12723" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012844", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12802361" }, "publicationId": "PMID:9140396" }, "phenotypeStatement": "Trichilemmoma", "dateAssigned": "2018-02-26T16:09:16.000-06:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012109", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329845517" }, "publicationId": "PMID:32641001" }, "phenotypeStatement": "Angle closure glaucoma", "dateAssigned": "2023-05-24T13:10:23.000-05:00", "objectId": "HGNC:171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003493", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671418" }, "publicationId": "PMID:23990947" }, "phenotypeStatement": "Antinuclear antibody positivity", "dateAssigned": "2020-04-27T09:23:04.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671418" }, "publicationId": "PMID:23990947" }, "phenotypeStatement": "Elevated circulating alkaline phosphatase concentration", "dateAssigned": "2020-04-27T09:23:04.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009381", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657405" }, "publicationId": "PMID:9800905" }, "phenotypeStatement": "Short finger", "dateAssigned": "2018-04-20T10:13:38.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657405" }, "publicationId": "PMID:9800905" }, "phenotypeStatement": "Flat face", "dateAssigned": "2018-04-20T10:13:39.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657405" }, "publicationId": "PMID:9800905" }, "phenotypeStatement": "Myopia", "dateAssigned": "2018-04-20T10:13:39.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000405", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657405" }, "publicationId": "PMID:9800905" }, "phenotypeStatement": "Conductive hearing impairment", "dateAssigned": "2018-04-20T10:13:39.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000311", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657405" }, "publicationId": "PMID:9800905" }, "phenotypeStatement": "Round face", "dateAssigned": "2018-04-20T10:13:39.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671408" }, "publicationId": "PMID:26541327" }, "phenotypeStatement": "Acute hepatic failure", "dateAssigned": "2020-04-27T08:12:50.000-05:00", "objectId": "HGNC:15625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671408" }, "publicationId": "PMID:26541327" }, "phenotypeStatement": "Fever", "dateAssigned": "2020-04-27T08:12:50.000-05:00", "objectId": "HGNC:15625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671408" }, "publicationId": "PMID:26541327" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2020-04-27T08:12:50.000-05:00", "objectId": "HGNC:15625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671408" }, "publicationId": "PMID:26541327" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2020-04-27T08:12:50.000-05:00", "objectId": "HGNC:15625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671408" }, "publicationId": "PMID:26541327" }, "phenotypeStatement": "Increased total bilirubin", "dateAssigned": "2020-04-27T08:12:50.000-05:00", "objectId": "HGNC:15625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12904044" }, "publicationId": "PMID:12614756" }, "phenotypeStatement": "Posterior embryotoxon", "dateAssigned": "2017-05-16T12:27:40.000-05:00", "objectId": "HGNC:3800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011447", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062007" }, "publicationId": "PMID:14617022" }, "phenotypeStatement": "Hyposegmentation of neutrophil nuclei", "dateAssigned": "2019-02-18T16:12:37.000-06:00", "objectId": "HGNC:6518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040511" }, "publicationId": "PMID:16720838" }, "phenotypeStatement": "Reduced protein C activity", "dateAssigned": "2017-12-22T14:21:09.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040511" }, "publicationId": "PMID:16720838" }, "phenotypeStatement": "Reduced protein S activity", "dateAssigned": "2017-12-22T14:21:09.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003645", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040511" }, "publicationId": "PMID:16720838" }, "phenotypeStatement": "Prolonged partial thromboplastin time", "dateAssigned": "2017-12-22T14:21:09.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008151", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040511" }, "publicationId": "PMID:16720838" }, "phenotypeStatement": "Prolonged prothrombin time", "dateAssigned": "2017-12-22T14:21:09.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003452", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12904050" }, "publicationId": "PMID:16793930" }, "phenotypeStatement": "Increased circulating iron concentration", "dateAssigned": "2017-05-16T13:44:27.000-05:00", "objectId": "HGNC:11892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012465", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12904050" }, "publicationId": "PMID:16793930" }, "phenotypeStatement": "Elevated hepatic iron concentration", "dateAssigned": "2017-05-16T13:44:27.000-05:00", "objectId": "HGNC:11892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001386", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490238" }, "publicationId": "PMID:15987486" }, "phenotypeStatement": "Joint swelling", "dateAssigned": "2017-11-28T11:00:01.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001288", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490251" }, "publicationId": "PMID:18807169" }, "phenotypeStatement": "Gait disturbance", "dateAssigned": "2017-11-28T14:10:31.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11099990" }, "publicationId": "PMID:22545135" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-10T13:39:55.000-05:00", "objectId": "HGNC:9451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578329" }, "publicationId": "PMID:15793265" }, "phenotypeStatement": "Abnormal glucose homeostasis", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1576426" }, "publicationId": "PMID:12031704" }, "phenotypeStatement": "Reduced left ventricular ejection fraction", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:2592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580470" }, "publicationId": "PMID:14691581" }, "phenotypeStatement": "Hyperbilirubinemia", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:5013" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36174228" }, "publicationId": "PMID:9007312" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358451" }, "publicationId": "PMID:10572328" }, "phenotypeStatement": "Auditory hallucination", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:1570" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100852", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358454" }, "publicationId": "PMID:15354400" }, "phenotypeStatement": "Abnormal fear-induced behavior", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:1571" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578418" }, "publicationId": "PMID:9585673" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578418" }, "publicationId": "PMID:9585673" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578418" }, "publicationId": "PMID:9585673" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008279", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578481" }, "publicationId": "PMID:12915220" }, "phenotypeStatement": "Transient hyperlipidemia", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578682" }, "publicationId": "PMID:12593895" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100852", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358525" }, "publicationId": "PMID:14675801" }, "phenotypeStatement": "Abnormal fear-induced behavior", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:2355" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580484" }, "publicationId": "PMID:15969253" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:6018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580485" }, "publicationId": "PMID:12846758" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:6018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001712", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580485" }, "publicationId": "PMID:12846758" }, "phenotypeStatement": "Left ventricular hypertrophy", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:6018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580227" }, "publicationId": "PMID:7749820" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580227" }, "publicationId": "PMID:7749820" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580226" }, "publicationId": "PMID:12006394" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:9232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580226" }, "publicationId": "PMID:12006394" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:9232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009911", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421514" }, "publicationId": "PMID:15355436" }, "phenotypeStatement": "Abnormal temporal bone morphology", "dateAssigned": "2018-02-16T11:32:43.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008619", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421514" }, "publicationId": "PMID:15355436" }, "phenotypeStatement": "Bilateral sensorineural hearing impairment", "dateAssigned": "2018-02-16T11:32:43.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421514" }, "publicationId": "PMID:15355436" }, "phenotypeStatement": "Positive perchlorate discharge test", "dateAssigned": "2018-02-16T11:32:43.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031794", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580689" }, "publicationId": "PMID:14680975" }, "phenotypeStatement": "Decreased circulating glycerol level", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:9236" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040299", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580689" }, "publicationId": "PMID:14680975" }, "phenotypeStatement": "Decreased circulating free fatty acid level", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:9236" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001712", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580708" }, "publicationId": "PMID:16209992" }, "phenotypeStatement": "Left ventricular hypertrophy", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:9317" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421530" }, "publicationId": "PMID:10868974" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2018-02-16T12:57:04.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483853" }, "publicationId": "PMID:18349110" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-02-16T16:11:51.000-06:00", "objectId": "HGNC:7406" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040194", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358730" }, "publicationId": "PMID:14960295" }, "phenotypeStatement": "Increased head circumference", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:5099" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358736" }, "publicationId": "PMID:8742444" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:5295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358657" }, "publicationId": "PMID:15060098" }, "phenotypeStatement": "Alzheimer disease", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358662" }, "publicationId": "PMID:10624811" }, "phenotypeStatement": "Alzheimer disease", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:5301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358665" }, "publicationId": "PMID:14746878" }, "phenotypeStatement": "Neurodegeneration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358668" }, "publicationId": "PMID:11181039" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000718", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358368" }, "publicationId": "PMID:10909127" }, "phenotypeStatement": "Aggressive behavior", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:281" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030872", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1298607" }, "publicationId": "PMID:11959040" }, "phenotypeStatement": "Abnormal cardiac ventricular function", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:336" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007009", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358745" }, "publicationId": "PMID:9184650" }, "phenotypeStatement": "Central nervous system degeneration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:6014" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011376", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411671" }, "publicationId": "PMID:18167283" }, "phenotypeStatement": "Abnormal morphology of the vestibule of the inner ear", "dateAssigned": "2018-02-15T16:39:10.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506790" }, "publicationId": "PMID:20939869" }, "phenotypeStatement": "Hypoinsulinemia", "dateAssigned": "2018-02-15T16:40:08.000-06:00", "objectId": "HGNC:7965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580131" }, "publicationId": "PMID:12960956" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:8583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580131" }, "publicationId": "PMID:12960956" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:8583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580175" }, "publicationId": "PMID:12872042" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:7943" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006683", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580175" }, "publicationId": "PMID:12872042" }, "phenotypeStatement": "Abnormal ventricular filling", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:7943" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358639" }, "publicationId": "PMID:12634518" }, "phenotypeStatement": "Self-injurious behavior", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:4400" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358642" }, "publicationId": "PMID:12497607" }, "phenotypeStatement": "Atypical behavior", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:4574" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007302", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358644" }, "publicationId": "PMID:12809987" }, "phenotypeStatement": "Bipolar affective disorder", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:4585" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000717", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358645" }, "publicationId": "PMID:12676915" }, "phenotypeStatement": "Autism", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:4600" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1300267" }, "publicationId": "PMID:7609752" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001900", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041605" }, "publicationId": "PMID:8506290" }, "phenotypeStatement": "Increased circulating hemoglobin concentration", "dateAssigned": "2017-12-12T15:20:08.000-06:00", "objectId": "HGNC:3416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012184", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580470" }, "publicationId": "PMID:14691581" }, "phenotypeStatement": "Increased HDL cholesterol concentration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:5013" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030965", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580477" }, "publicationId": "PMID:12791939" }, "phenotypeStatement": "Aortic stiffness", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:5464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1300287" }, "publicationId": "PMID:12738753" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:601" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003198", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36174227" }, "publicationId": "PMID:10508519" }, "phenotypeStatement": "Myopathy", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:129" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580539" }, "publicationId": "PMID:11071388" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:6677" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580539" }, "publicationId": "PMID:11071388" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:6677" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002160", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580579" }, "publicationId": "PMID:15648053" }, "phenotypeStatement": "Hyperhomocystinemia", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001156", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580403" }, "publicationId": "PMID:15070926" }, "phenotypeStatement": "Brachydactyly", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:4392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580408" }, "publicationId": "PMID:11230982" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:4400" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025168", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580410" }, "publicationId": "PMID:10526907" }, "phenotypeStatement": "Left ventricular diastolic dysfunction", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:4400" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36174229" }, "publicationId": "PMID:10424818" }, "phenotypeStatement": "Ataxia", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:12496" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040195", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36174229" }, "publicationId": "PMID:10424818" }, "phenotypeStatement": "Decreased head circumference", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:12496" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358535" }, "publicationId": "PMID:14757324" }, "phenotypeStatement": "Depression", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:7955" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100710", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358582" }, "publicationId": "PMID:12915833" }, "phenotypeStatement": "Impulsivity", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:11049" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011096", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358634" }, "publicationId": "PMID:12499475" }, "phenotypeStatement": "Peripheral demyelination", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:15968" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358638" }, "publicationId": "PMID:10522893" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:4580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1559325" }, "publicationId": "PMID:9126344" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578728" }, "publicationId": "PMID:16041242" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:286" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36947392" }, "publicationId": "RGD:36947392" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:8039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011017", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:734998" }, "publicationId": "PMID:9774341" }, "phenotypeStatement": "Abnormal cellular physiology", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:2755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1556752" }, "publicationId": "PMID:9973300" }, "phenotypeStatement": "Abnormal circulating lipid concentration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:6677" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1556752" }, "publicationId": "PMID:9973300" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:6677" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599404" }, "publicationId": "PMID:12640452" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2007-02-01T14:56:01.000-06:00", "objectId": "HGNC:882" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008897", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1559287" }, "publicationId": "PMID:16142236" }, "phenotypeStatement": "Postnatal growth retardation", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1559287" }, "publicationId": "PMID:16142236" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000303", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599405" }, "publicationId": "PMID:12652298" }, "phenotypeStatement": "Mandibular prognathia", "dateAssigned": "2007-02-01T15:31:45.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010804", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599405" }, "publicationId": "PMID:12652298" }, "phenotypeStatement": "Tented upper lip vermilion", "dateAssigned": "2007-02-01T15:31:45.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000248", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599405" }, "publicationId": "PMID:12652298" }, "phenotypeStatement": "Brachycephaly", "dateAssigned": "2007-02-01T15:31:45.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1559299" }, "publicationId": "PMID:11775124" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:243" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394843" }, "publicationId": "PMID:12447164" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-13T16:34:20.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394843" }, "publicationId": "PMID:12447164" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-02-13T16:34:20.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599920" }, "publicationId": "PMID:11479597" }, "phenotypeStatement": "Delayed epiphyseal ossification", "dateAssigned": "2007-02-21T12:18:36.000-06:00", "objectId": "HGNC:6909" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599383" }, "publicationId": "PMID:10973252" }, "phenotypeStatement": "Hyperkalemic metabolic acidosis", "dateAssigned": "2007-02-01T09:19:48.000-06:00", "objectId": "HGNC:866" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012594", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598731" }, "publicationId": "PMID:10700177" }, "phenotypeStatement": "Moderate albuminuria", "dateAssigned": "2006-12-16T10:36:16.000-06:00", "objectId": "HGNC:166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000047", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600059" }, "publicationId": "PMID:10514539" }, "phenotypeStatement": "Hypospadias", "dateAssigned": "2007-02-26T17:42:06.000-06:00", "objectId": "HGNC:11285" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548518" }, "publicationId": "PMID:23288993" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2019-05-08T12:58:14.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011893", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11522729" }, "publicationId": "PMID:22033490" }, "phenotypeStatement": "Abnormal leukocyte count", "dateAssigned": "2016-08-05T09:58:08.000-05:00", "objectId": "HGNC:5382" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000666", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599538" }, "publicationId": "PMID:11455388" }, "phenotypeStatement": "Horizontal nystagmus", "dateAssigned": "2007-02-07T12:06:54.000-06:00", "objectId": "HGNC:15597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000572", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599538" }, "publicationId": "PMID:11455388" }, "phenotypeStatement": "Visual loss", "dateAssigned": "2007-02-07T12:06:54.000-06:00", "objectId": "HGNC:15597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001892", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599538" }, "publicationId": "PMID:11455388" }, "phenotypeStatement": "Abnormal bleeding", "dateAssigned": "2007-02-07T12:06:54.000-06:00", "objectId": "HGNC:15597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011883", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599538" }, "publicationId": "PMID:11455388" }, "phenotypeStatement": "Abnormal platelet granules", "dateAssigned": "2007-02-07T12:07:46.000-06:00", "objectId": "HGNC:15597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001738", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599541" }, "publicationId": "PMID:12496757" }, "phenotypeStatement": "Exocrine pancreatic insufficiency", "dateAssigned": "2007-02-07T12:13:35.000-06:00", "objectId": "HGNC:19440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008283", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626400" }, "publicationId": "PMID:14981227" }, "phenotypeStatement": "Fasting hyperinsulinemia", "dateAssigned": "2007-08-07T15:10:41.000-05:00", "objectId": "HGNC:3556" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004361", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626400" }, "publicationId": "PMID:14981227" }, "phenotypeStatement": "Abnormal circulating leptin concentration", "dateAssigned": "2007-08-07T15:10:41.000-05:00", "objectId": "HGNC:3556" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031414", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210779" }, "publicationId": "PMID:27155524" }, "phenotypeStatement": "High serum calcifediol", "dateAssigned": "2018-02-28T10:10:10.000-06:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657116" }, "publicationId": "PMID:22577081" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2017-11-28T15:30:46.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5148018" }, "publicationId": "PMID:11022854" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2017-11-29T14:26:57.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5148018" }, "publicationId": "PMID:11022854" }, "phenotypeStatement": "Resting tremor", "dateAssigned": "2017-11-29T14:26:57.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5148018" }, "publicationId": "PMID:11022854" }, "phenotypeStatement": "Lewy bodies", "dateAssigned": "2017-11-29T14:26:57.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002577", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5683907" }, "publicationId": "PMID:18716896" }, "phenotypeStatement": "Abnormal stomach morphology", "dateAssigned": "2017-11-29T15:57:23.000-06:00", "objectId": "HGNC:270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684422" }, "publicationId": "PMID:21285172" }, "phenotypeStatement": "Arthritis", "dateAssigned": "2017-11-29T17:29:14.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626413" }, "publicationId": "PMID:11699048" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2007-08-07T11:54:21.000-05:00", "objectId": "HGNC:3556" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002522", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490251" }, "publicationId": "PMID:18807169" }, "phenotypeStatement": "Areflexia of lower limbs", "dateAssigned": "2017-11-28T14:10:31.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007340", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490251" }, "publicationId": "PMID:18807169" }, "phenotypeStatement": "Lower limb muscle weakness", "dateAssigned": "2017-11-28T14:10:31.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002070", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490251" }, "publicationId": "PMID:18807169" }, "phenotypeStatement": "Limb ataxia", "dateAssigned": "2017-11-28T14:10:31.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012649", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508454" }, "publicationId": "PMID:17596285" }, "phenotypeStatement": "Increased inflammatory response", "dateAssigned": "2017-11-28T14:47:04.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001260", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490251" }, "publicationId": "PMID:18807169" }, "phenotypeStatement": "Dysarthria", "dateAssigned": "2017-11-28T14:10:31.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1642828" }, "publicationId": "PMID:16459167" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2007-10-19T17:46:29.000-05:00", "objectId": "HGNC:13557" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2289713" }, "publicationId": "PMID:17497175" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2008-02-08T00:00:00.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011675", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580515" }, "publicationId": "PMID:12628721" }, "phenotypeStatement": "Arrhythmia", "dateAssigned": "2009-03-19T17:33:00.000-05:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463973" }, "publicationId": "PMID:23612435" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2024-03-11T09:37:31.000-05:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463973" }, "publicationId": "PMID:23612435" }, "phenotypeStatement": "Positive urine opioid test", "dateAssigned": "2024-03-11T09:37:31.000-05:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031691", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902982" }, "publicationId": "PMID:23487427" }, "phenotypeStatement": "Severe viral infection", "dateAssigned": "2021-06-18T13:15:40.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14398755" }, "publicationId": "PMID:30168489" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-06-18T13:47:26.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625252" }, "publicationId": "PMID:16511605" }, "phenotypeStatement": "Short stature", "dateAssigned": "2007-05-31T10:03:56.000-05:00", "objectId": "HGNC:4267" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008283", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625118" }, "publicationId": "PMID:11101842" }, "phenotypeStatement": "Fasting hyperinsulinemia", "dateAssigned": "2007-05-22T14:30:41.000-05:00", "objectId": "HGNC:6081" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625636" }, "publicationId": "PMID:16286534" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "2007-06-15T17:25:17.000-05:00", "objectId": "HGNC:3471" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625233" }, "publicationId": "PMID:15054840" }, "phenotypeStatement": "Decreased body weight", "dateAssigned": "2007-05-30T12:24:42.000-05:00", "objectId": "HGNC:330" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002615", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625599" }, "publicationId": "PMID:12123490" }, "phenotypeStatement": "Hypotension", "dateAssigned": "2007-06-14T17:32:19.000-05:00", "objectId": "HGNC:2843" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0045082", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625599" }, "publicationId": "PMID:12123490" }, "phenotypeStatement": "Decreased body mass index", "dateAssigned": "2007-06-14T17:32:19.000-05:00", "objectId": "HGNC:2843" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625064" }, "publicationId": "PMID:17357073" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "2007-05-18T10:51:36.000-05:00", "objectId": "HGNC:3176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012184", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625599" }, "publicationId": "PMID:12123490" }, "phenotypeStatement": "Increased HDL cholesterol concentration", "dateAssigned": "2007-06-14T17:32:19.000-05:00", "objectId": "HGNC:2843" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625232" }, "publicationId": "PMID:12213871" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "2007-05-30T12:24:09.000-05:00", "objectId": "HGNC:330" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1624968" }, "publicationId": "PMID:12629116" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2007-05-15T08:49:32.000-05:00", "objectId": "HGNC:20389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1624968" }, "publicationId": "PMID:12629116" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2007-05-15T08:49:32.000-05:00", "objectId": "HGNC:20389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012153", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1642723" }, "publicationId": "PMID:15150650" }, "phenotypeStatement": "Hypotriglyceridemia", "dateAssigned": "2007-10-10T16:19:31.000-05:00", "objectId": "HGNC:9670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1642723" }, "publicationId": "PMID:15150650" }, "phenotypeStatement": "Hypoinsulinemia", "dateAssigned": "2007-10-10T16:19:31.000-05:00", "objectId": "HGNC:9670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625197" }, "publicationId": "PMID:11950857" }, "phenotypeStatement": "Abnormal circulating cholesterol concentration", "dateAssigned": "2007-05-29T11:21:54.000-05:00", "objectId": "HGNC:11290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040214", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626696" }, "publicationId": "PMID:17192720" }, "phenotypeStatement": "Abnormal circulating insulin concentration", "dateAssigned": "2007-08-20T16:10:19.000-05:00", "objectId": "HGNC:5381" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601296" }, "publicationId": "PMID:17186458" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "2007-04-16T10:35:28.000-05:00", "objectId": "HGNC:4195" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11099995" }, "publicationId": "PMID:21057501" }, "phenotypeStatement": "Persistence of hemoglobin F", "dateAssigned": "2016-06-10T16:31:06.000-05:00", "objectId": "HGNC:13221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1642625" }, "publicationId": "PMID:16776623" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2007-10-04T14:41:17.000-05:00", "objectId": "HGNC:9205" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1642625" }, "publicationId": "PMID:16776623" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2007-10-04T14:41:17.000-05:00", "objectId": "HGNC:9205" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040217", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626697" }, "publicationId": "PMID:12765971" }, "phenotypeStatement": "Elevated hemoglobin A1c", "dateAssigned": "2007-08-20T17:21:47.000-05:00", "objectId": "HGNC:5381" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600810" }, "publicationId": "PMID:7786798" }, "phenotypeStatement": "Abnormal erythrocyte morphology", "dateAssigned": "2007-03-27T16:41:03.000-05:00", "objectId": "HGNC:4823" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601316" }, "publicationId": "PMID:7565946" }, "phenotypeStatement": "Short stature", "dateAssigned": "2007-04-16T16:34:55.000-05:00", "objectId": "HGNC:4263" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600842" }, "publicationId": "PMID:11595024" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2007-03-28T11:04:06.000-05:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030588", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600842" }, "publicationId": "PMID:11595024" }, "phenotypeStatement": "Abnormal visual field test", "dateAssigned": "2007-03-28T11:04:06.000-05:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032436", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540310" }, "publicationId": "PMID:31915469" }, "phenotypeStatement": "Abnormal circulating C-reactive protein concentration", "dateAssigned": "2021-12-31T16:42:57.000-06:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001118", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600516" }, "publicationId": "PMID:10729115" }, "phenotypeStatement": "Juvenile cataract", "dateAssigned": "2007-03-12T15:07:48.000-05:00", "objectId": "HGNC:1041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175561" }, "publicationId": "PMID:21439949" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2012-12-12T10:20:17.000-06:00", "objectId": "HGNC:7146" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001712", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601140" }, "publicationId": "PMID:17145981" }, "phenotypeStatement": "Left ventricular hypertrophy", "dateAssigned": "2007-04-09T11:22:08.000-05:00", "objectId": "HGNC:333" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004761", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9590309" }, "publicationId": "PMID:21062767" }, "phenotypeStatement": "Post-angioplasty coronary artery restenosis", "dateAssigned": "2018-07-10T14:26:33.000-05:00", "objectId": "HGNC:8638" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1624301" }, "publicationId": "PMID:11448941" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2007-05-08T11:08:10.000-05:00", "objectId": "HGNC:5466" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601409" }, "publicationId": "PMID:16437557" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2007-04-19T13:19:17.000-05:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601312" }, "publicationId": "PMID:15713716" }, "phenotypeStatement": "Short stature", "dateAssigned": "2007-04-16T15:33:01.000-05:00", "objectId": "HGNC:4261" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1556752" }, "publicationId": "PMID:9973300" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2018-01-29T15:30:19.000-06:00", "objectId": "HGNC:6677" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483061" }, "publicationId": "PMID:7920660" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2017-12-04T15:46:34.000-06:00", "objectId": "HGNC:6470" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002149", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684422" }, "publicationId": "PMID:21285172" }, "phenotypeStatement": "Hyperuricemia", "dateAssigned": "2017-11-29T17:29:14.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007408", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285406" }, "publicationId": "PMID:23291585" }, "phenotypeStatement": "Tegumentary leishmaniasis susceptibility", "dateAssigned": "2021-06-21T12:40:41.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625567" }, "publicationId": "PMID:16144986" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2007-06-14T11:53:15.000-05:00", "objectId": "HGNC:2642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625567" }, "publicationId": "PMID:16144986" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2007-06-14T11:53:15.000-05:00", "objectId": "HGNC:2642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1642793" }, "publicationId": "PMID:10807750" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2007-10-16T12:55:50.000-05:00", "objectId": "HGNC:10995" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626507" }, "publicationId": "PMID:16777502" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2007-08-10T13:36:30.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893326" }, "publicationId": "PMID:20064547" }, "phenotypeStatement": "Dementia", "dateAssigned": "2016-07-08T10:11:16.000-05:00", "objectId": "HGNC:7782" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5685661" }, "publicationId": "PMID:16013913" }, "phenotypeStatement": "Dementia", "dateAssigned": "2016-07-07T16:43:10.000-05:00", "objectId": "HGNC:602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893326" }, "publicationId": "PMID:20064547" }, "phenotypeStatement": "Age-related cataract", "dateAssigned": "2016-07-08T10:11:16.000-05:00", "objectId": "HGNC:7782" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252119" }, "publicationId": "PMID:11849215" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-24T17:49:10.000-05:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001344", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13439711" }, "publicationId": "PMID:18478038" }, "phenotypeStatement": "Absent speech", "dateAssigned": "2017-10-11T12:09:12.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001348", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13439711" }, "publicationId": "PMID:18478038" }, "phenotypeStatement": "Brisk reflexes", "dateAssigned": "2017-10-11T12:09:12.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003693", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13439711" }, "publicationId": "PMID:18478038" }, "phenotypeStatement": "Distal amyotrophy", "dateAssigned": "2017-10-11T12:09:12.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040195", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13439711" }, "publicationId": "PMID:18478038" }, "phenotypeStatement": "Decreased head circumference", "dateAssigned": "2017-10-11T12:09:12.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13439711" }, "publicationId": "PMID:18478038" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2017-10-11T12:09:12.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000973", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13439711" }, "publicationId": "PMID:18478038" }, "phenotypeStatement": "Cutis laxa", "dateAssigned": "2017-10-11T12:09:12.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003502", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13439711" }, "publicationId": "PMID:18478038" }, "phenotypeStatement": "Mild short stature", "dateAssigned": "2017-10-11T12:09:12.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626222" }, "publicationId": "PMID:9392003" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2007-07-24T14:07:34.000-05:00", "objectId": "HGNC:6933" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025521", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626222" }, "publicationId": "PMID:9392003" }, "phenotypeStatement": "Increased body fat percentage", "dateAssigned": "2007-07-24T14:07:35.000-05:00", "objectId": "HGNC:6932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002061", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12793065" }, "publicationId": "PMID:12355402" }, "phenotypeStatement": "Lower limb spasticity", "dateAssigned": "2017-03-20T12:36:33.000-05:00", "objectId": "HGNC:6323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025502", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625726" }, "publicationId": "PMID:15809662" }, "phenotypeStatement": "Overweight", "dateAssigned": "2007-06-27T17:28:57.000-05:00", "objectId": "HGNC:3553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601218" }, "publicationId": "PMID:15601967" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "2007-04-11T09:14:56.000-05:00", "objectId": "HGNC:3801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008897", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1624299" }, "publicationId": "PMID:14657428" }, "phenotypeStatement": "Postnatal growth retardation", "dateAssigned": "2007-05-08T10:13:51.000-05:00", "objectId": "HGNC:5465" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11568051" }, "publicationId": "PMID:25777271" }, "phenotypeStatement": "Proportionate short stature", "dateAssigned": "2016-12-07T13:33:37.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010314", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11568055" }, "publicationId": "PMID:15289771" }, "phenotypeStatement": "Premature thelarche", "dateAssigned": "2016-12-07T14:07:47.000-06:00", "objectId": "HGNC:4392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040185", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13464128" }, "publicationId": "PMID:28131619" }, "phenotypeStatement": "Macrothrombocytopenia", "dateAssigned": "2017-12-22T11:45:43.000-06:00", "objectId": "HGNC:4440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002789", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655661" }, "publicationId": "PMID:22574884" }, "phenotypeStatement": "Tachypnea", "dateAssigned": "2018-04-13T12:40:43.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655661" }, "publicationId": "PMID:22574884" }, "phenotypeStatement": "Intercostal retractions", "dateAssigned": "2018-04-13T12:40:43.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655661" }, "publicationId": "PMID:22574884" }, "phenotypeStatement": "Abnormal respiratory system physiology", "dateAssigned": "2018-04-13T12:40:43.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002088", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655661" }, "publicationId": "PMID:22574884" }, "phenotypeStatement": "Abnormal lung morphology", "dateAssigned": "2018-04-13T12:40:43.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329955374" }, "publicationId": "PMID:20107840" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-09-26T11:39:56.000-05:00", "objectId": "HGNC:4814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001396", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671415" }, "publicationId": "PMID:24648611" }, "phenotypeStatement": "Cholestasis", "dateAssigned": "2020-04-27T08:58:10.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003493", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671415" }, "publicationId": "PMID:24648611" }, "phenotypeStatement": "Antinuclear antibody positivity", "dateAssigned": "2020-04-27T08:58:10.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671410" }, "publicationId": "PMID:22963605" }, "phenotypeStatement": "Increased hepatitis B virus antibody level", "dateAssigned": "2020-04-27T08:38:10.000-05:00", "objectId": "HGNC:2606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031907", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671415" }, "publicationId": "PMID:24648611" }, "phenotypeStatement": "Anti-mitochondrial M2 antibody positivity", "dateAssigned": "2020-04-27T08:58:10.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002613", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671415" }, "publicationId": "PMID:24648611" }, "phenotypeStatement": "Biliary cirrhosis", "dateAssigned": "2020-04-27T08:58:10.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000709", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5135429" }, "publicationId": "PMID:19850283" }, "phenotypeStatement": "Psychosis", "dateAssigned": "2017-10-23T12:50:38.000-05:00", "objectId": "HGNC:8587" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006528", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902982" }, "publicationId": "PMID:23487427" }, "phenotypeStatement": "Chronic lung disease", "dateAssigned": "2021-06-18T13:18:37.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032933", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902982" }, "publicationId": "PMID:23487427" }, "phenotypeStatement": "Airway hyperresponsiveness", "dateAssigned": "2021-06-18T13:22:31.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003540", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13464128" }, "publicationId": "PMID:28131619" }, "phenotypeStatement": "Impaired platelet aggregation", "dateAssigned": "2017-12-22T11:45:43.000-06:00", "objectId": "HGNC:4440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001892", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040511" }, "publicationId": "PMID:16720838" }, "phenotypeStatement": "Abnormal bleeding", "dateAssigned": "2017-12-22T14:21:09.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003493", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671419" }, "publicationId": "PMID:28977835" }, "phenotypeStatement": "Antinuclear antibody positivity", "dateAssigned": "2020-04-27T09:26:41.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671419" }, "publicationId": "PMID:28977835" }, "phenotypeStatement": "Elevated circulating alkaline phosphatase concentration", "dateAssigned": "2020-04-27T09:26:41.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001392", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671445" }, "publicationId": "PMID:12783301" }, "phenotypeStatement": "Abnormality of the liver", "dateAssigned": "2020-04-27T12:38:04.000-05:00", "objectId": "HGNC:1884" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003237", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671419" }, "publicationId": "PMID:28977835" }, "phenotypeStatement": "Increased circulating IgG concentration", "dateAssigned": "2020-04-27T09:26:41.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012440", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671445" }, "publicationId": "PMID:12783301" }, "phenotypeStatement": "Abnormal biliary tract morphology", "dateAssigned": "2020-04-27T12:38:04.000-05:00", "objectId": "HGNC:1884" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5685681" }, "publicationId": "PMID:9272683" }, "phenotypeStatement": "Dementia", "dateAssigned": "2016-07-07T16:48:13.000-05:00", "objectId": "HGNC:602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007373", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655873" }, "publicationId": "PMID:10809943" }, "phenotypeStatement": "Motor neuron atrophy", "dateAssigned": "2016-07-08T11:32:38.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009177", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801467" }, "publicationId": "PMID:16151340" }, "phenotypeStatement": "Proximal fifth finger symphalangism", "dateAssigned": "2017-04-03T12:16:51.000-05:00", "objectId": "HGNC:7866" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39939049" }, "publicationId": "PMID:25751776" }, "phenotypeStatement": "Increased total leukocyte count", "dateAssigned": "2020-12-13T22:08:24.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827148" }, "publicationId": "PMID:27323192" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2023-09-25T15:00:35.000-05:00", "objectId": "HGNC:18401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002381", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483061" }, "publicationId": "PMID:7920660" }, "phenotypeStatement": "Aphasia", "dateAssigned": "2017-12-04T15:46:34.000-06:00", "objectId": "HGNC:6470" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002362", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483061" }, "publicationId": "PMID:7920660" }, "phenotypeStatement": "Shuffling gait", "dateAssigned": "2017-12-04T15:46:34.000-06:00", "objectId": "HGNC:6470" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001181", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483061" }, "publicationId": "PMID:7920660" }, "phenotypeStatement": "Adducted thumb", "dateAssigned": "2017-12-04T15:46:35.000-06:00", "objectId": "HGNC:6470" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11530001" }, "publicationId": "PMID:9392697" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2016-08-18T11:17:23.000-05:00", "objectId": "HGNC:6015" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537350" }, "publicationId": "PMID:17960139" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2016-09-30T13:35:38.000-05:00", "objectId": "HGNC:29168" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000090", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537350" }, "publicationId": "PMID:17960139" }, "phenotypeStatement": "Nephronophthisis", "dateAssigned": "2016-09-30T13:35:38.000-05:00", "objectId": "HGNC:29168" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010472", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21079461" }, "publicationId": "PMID:30385147" }, "phenotypeStatement": "Abnormal circulating porphyrin concentration", "dateAssigned": "2020-04-27T10:12:47.000-05:00", "objectId": "HGNC:2321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009002", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791019" }, "publicationId": "PMID:10655060" }, "phenotypeStatement": "Loss of truncal subcutaneous adipose tissue", "dateAssigned": "2017-02-27T15:12:15.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7243185" }, "publicationId": "PMID:23593165" }, "phenotypeStatement": "Elevated circulating creatinine concentration", "dateAssigned": "2018-01-25T15:29:55.000-06:00", "objectId": "HGNC:320" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7244175" }, "publicationId": "PMID:19542745" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2018-01-25T16:32:27.000-06:00", "objectId": "HGNC:320" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7244175" }, "publicationId": "PMID:19542745" }, "phenotypeStatement": "Abnormal fundus morphology", "dateAssigned": "2018-01-25T16:32:27.000-06:00", "objectId": "HGNC:320" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7495801" }, "publicationId": "PMID:17513527" }, "phenotypeStatement": "Old-aged sensorineural hearing impairment", "dateAssigned": "2018-03-05T14:18:50.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7245989" }, "publicationId": "PMID:22787315" }, "phenotypeStatement": "Elevated circulating creatinine concentration", "dateAssigned": "2018-01-26T12:10:17.000-06:00", "objectId": "HGNC:15633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246884" }, "publicationId": "PMID:20497632" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2018-01-26T12:40:45.000-06:00", "objectId": "HGNC:15633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442504" }, "publicationId": "PMID:28639748" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2017-11-06T16:23:24.000-06:00", "objectId": "HGNC:8804" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508424" }, "publicationId": "PMID:20971030" }, "phenotypeStatement": "Lewy bodies", "dateAssigned": "2017-02-24T15:00:19.000-06:00", "objectId": "HGNC:4177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003635", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791019" }, "publicationId": "PMID:10655060" }, "phenotypeStatement": "Loss of subcutaneous adipose tissue in limbs", "dateAssigned": "2017-02-27T15:12:15.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552307" }, "publicationId": "PMID:23213273" }, "phenotypeStatement": "Increased axial length of the globe", "dateAssigned": "2018-04-03T10:54:25.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11065528" }, "publicationId": "PMID:16222657" }, "phenotypeStatement": "Ascending tubular aorta aneurysm", "dateAssigned": "2017-05-25T10:52:34.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001634", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11065528" }, "publicationId": "PMID:16222657" }, "phenotypeStatement": "Mitral valve prolapse", "dateAssigned": "2017-05-25T10:52:34.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488947" }, "publicationId": "PMID:11040079" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-23T15:25:57.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000988", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11522500" }, "publicationId": "PMID:26234573" }, "phenotypeStatement": "Skin rash", "dateAssigned": "2016-08-15T16:24:10.000-05:00", "objectId": "HGNC:10618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006191", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11070051" }, "publicationId": "PMID:16881968" }, "phenotypeStatement": "Deep palmar crease", "dateAssigned": "2017-02-01T11:19:29.000-06:00", "objectId": "HGNC:5173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11070051" }, "publicationId": "PMID:16881968" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2017-02-01T11:19:29.000-06:00", "objectId": "HGNC:5173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893602" }, "publicationId": "PMID:22707612" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2017-12-15T17:24:29.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9589021" }, "publicationId": "PMID:12046007" }, "phenotypeStatement": "Short stature", "dateAssigned": "2018-07-02T18:01:54.000-05:00", "objectId": "HGNC:6954" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9589021" }, "publicationId": "PMID:12046007" }, "phenotypeStatement": "Decreased body weight", "dateAssigned": "2018-07-02T18:01:54.000-05:00", "objectId": "HGNC:6954" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:149735566" }, "publicationId": "PMID:27649069" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2021-07-22T22:00:01.000-05:00", "objectId": "HGNC:5383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000836", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11352245" }, "publicationId": "PMID:10404810" }, "phenotypeStatement": "Hyperthyroidism", "dateAssigned": "2016-07-12T11:49:43.000-05:00", "objectId": "HGNC:2505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000366", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671445" }, "publicationId": "PMID:12783301" }, "phenotypeStatement": "Abnormality of the nose", "dateAssigned": "2020-04-27T12:38:04.000-05:00", "objectId": "HGNC:1884" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671459" }, "publicationId": "PMID:19919686" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2020-04-27T13:37:22.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031838", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671459" }, "publicationId": "PMID:19919686" }, "phenotypeStatement": "Presence of xenobiotic", "dateAssigned": "2020-04-27T13:37:22.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553925" }, "publicationId": "PMID:19753314" }, "phenotypeStatement": "Abnormal electroretinogram", "dateAssigned": "2016-10-18T10:58:28.000-05:00", "objectId": "HGNC:18121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000639", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491819" }, "publicationId": "PMID:11179026" }, "phenotypeStatement": "Nystagmus", "dateAssigned": "2018-05-16T16:02:02.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000613", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491819" }, "publicationId": "PMID:11179026" }, "phenotypeStatement": "Photophobia", "dateAssigned": "2018-05-16T16:02:02.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491819" }, "publicationId": "PMID:11179026" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-05-16T16:02:02.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2306630" }, "publicationId": "PMID:15927971" }, "phenotypeStatement": "Elevated circulating creatinine concentration", "dateAssigned": "2017-09-27T15:11:18.000-05:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11250419" }, "publicationId": "PMID:22261441" }, "phenotypeStatement": "Reduced protein S activity", "dateAssigned": "2016-06-15T17:35:31.000-05:00", "objectId": "HGNC:9456" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000539", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552654" }, "publicationId": "PMID:17557158" }, "phenotypeStatement": "Abnormality of refraction", "dateAssigned": "2018-04-03T12:13:00.000-05:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552654" }, "publicationId": "PMID:17557158" }, "phenotypeStatement": "Increased axial length of the globe", "dateAssigned": "2018-04-03T12:13:00.000-05:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041758" }, "publicationId": "PMID:10435723" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2019-04-10T03:31:06.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025082", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038786" }, "publicationId": "PMID:16835894" }, "phenotypeStatement": "Abnormal cutaneous elastic fiber morphology", "dateAssigned": "2019-03-20T12:54:43.000-05:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038786" }, "publicationId": "PMID:16835894" }, "phenotypeStatement": "Abnormal fundus morphology", "dateAssigned": "2019-03-20T12:54:43.000-05:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011355", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038786" }, "publicationId": "PMID:16835894" }, "phenotypeStatement": "Localized skin lesion", "dateAssigned": "2019-03-20T12:54:43.000-05:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025020", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5509093" }, "publicationId": "PMID:21430300" }, "phenotypeStatement": "Elevated prostate-specific antigen level", "dateAssigned": "2019-03-15T17:43:31.000-05:00", "objectId": "HGNC:391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031685", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671429" }, "publicationId": "PMID:15896662" }, "phenotypeStatement": "Abnormal stool composition", "dateAssigned": "2020-04-27T10:21:23.000-05:00", "objectId": "HGNC:2321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010473", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671429" }, "publicationId": "PMID:15896662" }, "phenotypeStatement": "Porphyrinuria", "dateAssigned": "2020-04-27T10:21:23.000-05:00", "objectId": "HGNC:2321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002027", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671429" }, "publicationId": "PMID:15896662" }, "phenotypeStatement": "Abdominal pain", "dateAssigned": "2020-04-27T10:21:23.000-05:00", "objectId": "HGNC:2321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6770890" }, "publicationId": "PMID:21595933" }, "phenotypeStatement": "Atypical behavior", "dateAssigned": "2017-12-11T12:41:53.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8142353" }, "publicationId": "PMID:24452036" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-03-15T17:18:40.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003581", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8142353" }, "publicationId": "PMID:24452036" }, "phenotypeStatement": "Adult onset", "dateAssigned": "2018-03-15T17:18:40.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8142353" }, "publicationId": "PMID:24452036" }, "phenotypeStatement": "Increased C-peptide level", "dateAssigned": "2018-03-15T17:18:40.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242045" }, "publicationId": "PMID:19900151" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-01-24T15:36:19.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000366", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7794809" }, "publicationId": "PMID:18066575" }, "phenotypeStatement": "Abnormality of the nose", "dateAssigned": "2018-03-12T14:08:26.000-05:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671420" }, "publicationId": "PMID:25829184" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2020-04-27T09:36:47.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671420" }, "publicationId": "PMID:25829184" }, "phenotypeStatement": "Increased total bilirubin", "dateAssigned": "2020-04-27T09:36:47.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671420" }, "publicationId": "PMID:25829184" }, "phenotypeStatement": "Increased hepatitis B virus antibody level", "dateAssigned": "2020-04-27T09:36:47.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671420" }, "publicationId": "PMID:25829184" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-04-27T09:42:11.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11099984" }, "publicationId": "PMID:11434940" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-10T11:18:44.000-05:00", "objectId": "HGNC:9456" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671460" }, "publicationId": "PMID:25531380" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2020-04-27T13:39:27.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008035", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537383" }, "publicationId": "PMID:15723066" }, "phenotypeStatement": "Retinitis pigmentosa inversa", "dateAssigned": "2016-10-03T15:48:50.000-05:00", "objectId": "HGNC:28949" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285388" }, "publicationId": "PMID:17463416" }, "phenotypeStatement": "Chronic hepatitis", "dateAssigned": "2021-06-18T13:29:48.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9068445" }, "publicationId": "PMID:25028103" }, "phenotypeStatement": "Drusen", "dateAssigned": "2018-05-08T11:08:20.000-05:00", "objectId": "HGNC:5981" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671443" }, "publicationId": "PMID:26890333" }, "phenotypeStatement": "Hepatitis", "dateAssigned": "2020-04-27T12:09:12.000-05:00", "objectId": "HGNC:6330" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671443" }, "publicationId": "PMID:26890333" }, "phenotypeStatement": "Autoimmune antibody positivity", "dateAssigned": "2020-04-27T12:09:12.000-05:00", "objectId": "HGNC:6330" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003237", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671443" }, "publicationId": "PMID:26890333" }, "phenotypeStatement": "Increased circulating IgG concentration", "dateAssigned": "2020-04-27T12:09:12.000-05:00", "objectId": "HGNC:6330" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002910", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671443" }, "publicationId": "PMID:26890333" }, "phenotypeStatement": "Elevated circulating hepatic transaminase concentration", "dateAssigned": "2020-04-27T12:09:12.000-05:00", "objectId": "HGNC:6330" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003452", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10755320" }, "publicationId": "PMID:19838709" }, "phenotypeStatement": "Increased circulating iron concentration", "dateAssigned": "2017-03-09T15:00:53.000-06:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003281", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10755320" }, "publicationId": "PMID:19838709" }, "phenotypeStatement": "Increased circulating ferritin concentration", "dateAssigned": "2017-03-09T15:00:53.000-06:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671461" }, "publicationId": "PMID:28598207" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2020-04-27T13:47:15.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031506", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421571" }, "publicationId": "PMID:17194971" }, "phenotypeStatement": "Increased circulating T4 concentration", "dateAssigned": "2018-02-19T12:19:38.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011788", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421571" }, "publicationId": "PMID:17194971" }, "phenotypeStatement": "Increased circulating free T3", "dateAssigned": "2018-02-19T12:19:38.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421571" }, "publicationId": "PMID:17194971" }, "phenotypeStatement": "Decreased thyroid-stimulating hormone level", "dateAssigned": "2018-02-19T12:19:38.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030783", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285389" }, "publicationId": "PMID:29093318" }, "phenotypeStatement": "Increased circulating interleukin 6 concentration", "dateAssigned": "2021-06-18T13:34:41.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853735" }, "publicationId": "PMID:29650961" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2023-06-15T12:35:28.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853328" }, "publicationId": "PMID:33794346" }, "phenotypeStatement": "Patent ductus arteriosus", "dateAssigned": "2023-06-14T17:23:23.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242045" }, "publicationId": "PMID:19900151" }, "phenotypeStatement": "Albuminuria", "dateAssigned": "2018-01-24T15:35:42.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030350", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364926" }, "publicationId": "PMID:12198697" }, "phenotypeStatement": "Erythematous papule", "dateAssigned": "2018-02-02T17:42:15.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006042", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12738205" }, "publicationId": "PMID:24736735" }, "phenotypeStatement": "Y-shaped metacarpals", "dateAssigned": "2017-01-30T11:45:28.000-06:00", "objectId": "HGNC:4319" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010442", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12738205" }, "publicationId": "PMID:24736735" }, "phenotypeStatement": "Polydactyly", "dateAssigned": "2017-01-30T11:45:28.000-06:00", "objectId": "HGNC:4319" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002164", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12738205" }, "publicationId": "PMID:24736735" }, "phenotypeStatement": "Nail dysplasia", "dateAssigned": "2017-01-30T11:45:28.000-06:00", "objectId": "HGNC:4319" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001406", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401576" }, "publicationId": "PMID:9918928" }, "phenotypeStatement": "Intrahepatic cholestasis", "dateAssigned": "2019-07-03T16:18:59.000-05:00", "objectId": "HGNC:3706" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002613", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671421" }, "publicationId": "PMID:26084578" }, "phenotypeStatement": "Biliary cirrhosis", "dateAssigned": "2020-04-27T09:45:47.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671421" }, "publicationId": "PMID:26084578" }, "phenotypeStatement": "Crohn's disease", "dateAssigned": "2020-04-27T09:45:47.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004890", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853313" }, "publicationId": "PMID:30029678" }, "phenotypeStatement": "Elevated pulmonary artery pressure", "dateAssigned": "2023-06-15T12:11:38.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033350", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6892949" }, "publicationId": "PMID:19671143" }, "phenotypeStatement": "Elevated forced expiratory volume in one second", "dateAssigned": "2012-08-21T09:41:18.000-05:00", "objectId": "HGNC:23177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011893", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041131" }, "publicationId": "PMID:26072070" }, "phenotypeStatement": "Abnormal leukocyte count", "dateAssigned": "2017-12-13T12:14:37.000-06:00", "objectId": "HGNC:2978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031685", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671427" }, "publicationId": "PMID:11202054" }, "phenotypeStatement": "Abnormal stool composition", "dateAssigned": "2020-04-27T10:14:11.000-05:00", "objectId": "HGNC:2321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033678", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329845569" }, "publicationId": "PMID:33906697" }, "phenotypeStatement": "Acute coronary syndrome", "dateAssigned": "2023-05-30T09:26:35.000-05:00", "objectId": "HGNC:2654" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000202", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12792210" }, "publicationId": "PMID:11505167" }, "phenotypeStatement": "Orofacial cleft", "dateAssigned": "2017-03-09T14:11:19.000-06:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200036", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:734912" }, "publicationId": "PMID:11929856" }, "phenotypeStatement": "Skin nodule", "dateAssigned": "2016-05-23T14:33:49.000-05:00", "objectId": "HGNC:3153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012089", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794441" }, "publicationId": "PMID:30354298" }, "phenotypeStatement": "Arteritis", "dateAssigned": "2023-09-15T12:45:15.000-05:00", "objectId": "HGNC:11645" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10046012" }, "publicationId": "PMID:14675603" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2016-08-18T16:25:16.000-05:00", "objectId": "HGNC:7" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033522", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827102" }, "publicationId": "PMID:25354366" }, "phenotypeStatement": "Cerebral cavernous malformation", "dateAssigned": "2023-09-20T15:06:55.000-05:00", "objectId": "HGNC:8761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000589", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901759" }, "publicationId": "PMID:29146704" }, "phenotypeStatement": "Coloboma", "dateAssigned": "2023-07-06T15:28:29.000-05:00", "objectId": "HGNC:28396" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001626", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7244158" }, "publicationId": "PMID:20040351" }, "phenotypeStatement": "Abnormality of the cardiovascular system", "dateAssigned": "2018-01-25T16:20:21.000-06:00", "objectId": "HGNC:320" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358615" }, "publicationId": "PMID:11129341" }, "phenotypeStatement": "Dementia", "dateAssigned": "2016-07-08T09:53:56.000-05:00", "objectId": "HGNC:11920" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329845882" }, "publicationId": "PMID:25479076" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2023-06-12T14:38:34.000-05:00", "objectId": "HGNC:9922" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547962" }, "publicationId": "PMID:17405132" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2018-03-19T16:38:25.000-05:00", "objectId": "HGNC:12601" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547962" }, "publicationId": "PMID:17405132" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2018-03-19T16:38:25.000-05:00", "objectId": "HGNC:12601" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008283", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Fasting hyperinsulinemia", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012184", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Increased HDL cholesterol concentration", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000152", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207056" }, "publicationId": "PMID:19843588" }, "phenotypeStatement": "Abnormality of head or neck", "dateAssigned": "2018-01-08T14:09:16.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030088", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Increased serum testosterone level", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000837", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Increased circulating gonadotropin level", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005918", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12437076" }, "publicationId": "PMID:20683927" }, "phenotypeStatement": "Abnormal finger phalanx morphology", "dateAssigned": "2017-01-27T09:53:22.000-06:00", "objectId": "HGNC:4220" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041123" }, "publicationId": "PMID:24512939" }, "phenotypeStatement": "Increased total leukocyte count", "dateAssigned": "2017-12-13T14:00:42.000-06:00", "objectId": "HGNC:2978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242925" }, "publicationId": "PMID:16358215" }, "phenotypeStatement": "Abnormality of urine calcium concentration", "dateAssigned": "2018-01-24T18:16:52.000-06:00", "objectId": "HGNC:11019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100529", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242925" }, "publicationId": "PMID:16358215" }, "phenotypeStatement": "Abnormal blood phosphate concentration", "dateAssigned": "2018-01-24T18:16:52.000-06:00", "objectId": "HGNC:11019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242925" }, "publicationId": "PMID:16358215" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2018-01-24T18:16:52.000-06:00", "objectId": "HGNC:11019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031685", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671428" }, "publicationId": "PMID:9888388" }, "phenotypeStatement": "Abnormal stool composition", "dateAssigned": "2020-04-27T10:16:59.000-05:00", "objectId": "HGNC:2321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002018", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671428" }, "publicationId": "PMID:9888388" }, "phenotypeStatement": "Nausea", "dateAssigned": "2020-04-27T10:16:59.000-05:00", "objectId": "HGNC:2321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012217", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671428" }, "publicationId": "PMID:9888388" }, "phenotypeStatement": "Increased urinary porphobilinogen", "dateAssigned": "2020-04-27T10:16:59.000-05:00", "objectId": "HGNC:2321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002013", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671428" }, "publicationId": "PMID:9888388" }, "phenotypeStatement": "Vomiting", "dateAssigned": "2020-04-27T10:16:59.000-05:00", "objectId": "HGNC:2321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003163", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671428" }, "publicationId": "PMID:9888388" }, "phenotypeStatement": "Elevated urinary delta-aminolevulinic acid", "dateAssigned": "2020-04-27T10:16:59.000-05:00", "objectId": "HGNC:2321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041758" }, "publicationId": "PMID:10435723" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2019-04-10T03:36:14.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025380", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Increased circulating androstenedione concentration", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Decreased circulating calcifediol concentration", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010876", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Abnormal circulating protein concentration", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500022", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Abnormal circulating dehydroepiandrosterone concentration", "dateAssigned": "2017-09-08T17:28:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671423" }, "publicationId": "PMID:25041342" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-04-27T09:51:58.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002027", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671430" }, "publicationId": "PMID:12181641" }, "phenotypeStatement": "Abdominal pain", "dateAssigned": "2020-04-27T10:24:17.000-05:00", "objectId": "HGNC:2321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031685", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671430" }, "publicationId": "PMID:12181641" }, "phenotypeStatement": "Abnormal stool composition", "dateAssigned": "2020-04-27T10:24:17.000-05:00", "objectId": "HGNC:2321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004348", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13217421" }, "publicationId": "PMID:23212404" }, "phenotypeStatement": "Abnormality of bone mineral density", "dateAssigned": "2017-09-12T16:36:14.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242744" }, "publicationId": "PMID:22777106" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-01-24T17:01:17.000-06:00", "objectId": "HGNC:9606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506905" }, "publicationId": "PMID:22397267" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2018-02-22T13:36:44.000-06:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000973", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252182" }, "publicationId": "PMID:7842019" }, "phenotypeStatement": "Cutis laxa", "dateAssigned": "2016-06-28T10:30:29.000-05:00", "objectId": "HGNC:869" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002538", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14390078" }, "publicationId": "PMID:20950796" }, "phenotypeStatement": "Abnormal cerebral cortex morphology", "dateAssigned": "2019-02-19T13:16:56.000-06:00", "objectId": "HGNC:922" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003207", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688389" }, "publicationId": "PMID:16545818" }, "phenotypeStatement": "Arterial calcification", "dateAssigned": "2019-02-19T13:27:28.000-06:00", "objectId": "HGNC:3402" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242744" }, "publicationId": "PMID:22777106" }, "phenotypeStatement": "Hypoinsulinemia", "dateAssigned": "2018-01-24T17:01:17.000-06:00", "objectId": "HGNC:9606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340558" }, "publicationId": "PMID:25576295" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2021-08-14T00:50:04.000-05:00", "objectId": "HGNC:3700" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7794838" }, "publicationId": "PMID:22965834" }, "phenotypeStatement": "Old-aged sensorineural hearing impairment", "dateAssigned": "2018-03-12T15:45:44.000-05:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033522", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827114" }, "publicationId": "PMID:25122144" }, "phenotypeStatement": "Cerebral cavernous malformation", "dateAssigned": "2023-09-21T17:36:44.000-05:00", "objectId": "HGNC:8761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147576" }, "publicationId": "PMID:20462916" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T14:01:51.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5687197" }, "publicationId": "PMID:19345444" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T14:55:10.000-05:00", "objectId": "HGNC:3342" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158107" }, "publicationId": "PMID:22221882" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T12:49:20.000-05:00", "objectId": "HGNC:6893" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147681" }, "publicationId": "PMID:8872868" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T15:08:40.000-05:00", "objectId": "HGNC:2595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147678" }, "publicationId": "PMID:11793160" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T15:17:17.000-05:00", "objectId": "HGNC:2595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801468" }, "publicationId": "PMID:22387015" }, "phenotypeStatement": "Bowing of the long bones", "dateAssigned": "2018-02-27T10:46:50.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006279", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242744" }, "publicationId": "PMID:22777106" }, "phenotypeStatement": "Beta-cell dysfunction", "dateAssigned": "2018-01-24T17:01:17.000-06:00", "objectId": "HGNC:9606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242744" }, "publicationId": "PMID:22777106" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2018-01-24T17:01:17.000-06:00", "objectId": "HGNC:9606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001928", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11541089" }, "publicationId": "PMID:25846278" }, "phenotypeStatement": "Abnormality of coagulation", "dateAssigned": "2016-10-07T15:04:21.000-05:00", "objectId": "HGNC:8823" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175255" }, "publicationId": "PMID:21205020" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-01-02T14:42:44.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175558" }, "publicationId": "PMID:21970977" }, "phenotypeStatement": "Atypical behavior", "dateAssigned": "2018-01-02T17:05:38.000-06:00", "objectId": "HGNC:18084" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012888", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2292501" }, "publicationId": "PMID:17727244" }, "phenotypeStatement": "Abnormal uterine cervix morphology", "dateAssigned": "2017-04-12T16:20:45.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002090", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925985" }, "publicationId": "PMID:31683054" }, "phenotypeStatement": "Pneumonia", "dateAssigned": "2021-05-25T12:20:53.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925989" }, "publicationId": "PMID:29029143" }, "phenotypeStatement": "Abnormal cardiac test", "dateAssigned": "2021-05-25T13:07:22.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11099988" }, "publicationId": "PMID:24162787" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-10T12:24:06.000-05:00", "objectId": "HGNC:9451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401585" }, "publicationId": "PMID:20961200" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2019-07-03T16:01:10.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401585" }, "publicationId": "PMID:20961200" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2019-07-03T16:01:10.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401585" }, "publicationId": "PMID:20961200" }, "phenotypeStatement": "Increased total bilirubin", "dateAssigned": "2019-07-03T16:01:10.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329902076" }, "publicationId": "PMID:23661672" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2023-06-29T22:17:22.000-05:00", "objectId": "HGNC:5358" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034192", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853743" }, "publicationId": "PMID:37203835" }, "phenotypeStatement": "Pulmonary thromboembolism", "dateAssigned": "2023-06-15T15:43:55.000-05:00", "objectId": "HGNC:1047" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488947" }, "publicationId": "PMID:11040079" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-02-23T15:25:57.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488947" }, "publicationId": "PMID:11040079" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-23T15:25:57.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11099976" }, "publicationId": "PMID:25703683" }, "phenotypeStatement": "Persistence of hemoglobin F", "dateAssigned": "2016-06-09T15:21:14.000-05:00", "objectId": "HGNC:13221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011446", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11099977" }, "publicationId": "PMID:25938782" }, "phenotypeStatement": "Abnormality of mental function", "dateAssigned": "2016-06-09T16:30:32.000-05:00", "objectId": "HGNC:13221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207058" }, "publicationId": "PMID:19321798" }, "phenotypeStatement": "Esophageal carcinoma", "dateAssigned": "2016-06-13T16:53:27.000-05:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012497", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4142866" }, "publicationId": "PMID:18579366" }, "phenotypeStatement": "Reduced maximal expiratory pressure", "dateAssigned": "2016-06-21T15:16:36.000-05:00", "objectId": "HGNC:5992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012667", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626626" }, "publicationId": "PMID:12477941" }, "phenotypeStatement": "Regional left ventricular wall motion abnormality", "dateAssigned": "2017-09-27T14:05:00.000-05:00", "objectId": "HGNC:8583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626626" }, "publicationId": "PMID:12477941" }, "phenotypeStatement": "Abnormal EKG", "dateAssigned": "2017-09-27T14:05:00.000-05:00", "objectId": "HGNC:8583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626626" }, "publicationId": "PMID:12477941" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2017-09-27T14:05:00.000-05:00", "objectId": "HGNC:8583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012594", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893631" }, "publicationId": "PMID:22554825" }, "phenotypeStatement": "Moderate albuminuria", "dateAssigned": "2016-07-07T15:22:05.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:734912" }, "publicationId": "PMID:11929856" }, "phenotypeStatement": "Thickened skin", "dateAssigned": "2016-05-23T14:34:38.000-05:00", "objectId": "HGNC:3153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097087" }, "publicationId": "PMID:23237859" }, "phenotypeStatement": "Cochlear malformation", "dateAssigned": "2017-04-11T09:44:09.000-05:00", "objectId": "HGNC:11190" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011387", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097087" }, "publicationId": "PMID:23237859" }, "phenotypeStatement": "Enlarged vestibular aqueduct", "dateAssigned": "2017-04-11T09:44:09.000-05:00", "objectId": "HGNC:11190" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011380", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097087" }, "publicationId": "PMID:23237859" }, "phenotypeStatement": "Abnormal semicircular canal morphology", "dateAssigned": "2017-04-11T09:44:09.000-05:00", "objectId": "HGNC:11190" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009740", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097087" }, "publicationId": "PMID:23237859" }, "phenotypeStatement": "Aplasia of the parotid gland", "dateAssigned": "2017-04-11T09:44:09.000-05:00", "objectId": "HGNC:11190" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657118" }, "publicationId": "PMID:12112111" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2017-11-28T15:31:52.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030878", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11059534" }, "publicationId": "PMID:15805995" }, "phenotypeStatement": "Abnormality on pulmonary function testing", "dateAssigned": "2017-11-28T16:09:23.000-06:00", "objectId": "HGNC:11608" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032262", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127345096" }, "publicationId": "PMID:30972222" }, "phenotypeStatement": "Pulmonary tuberculosis", "dateAssigned": "2021-07-09T09:25:38.000-05:00", "objectId": "HGNC:1637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001410", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061089" }, "publicationId": "PMID:26922413" }, "phenotypeStatement": "Decreased liver function", "dateAssigned": "2020-05-12T12:24:35.000-05:00", "objectId": "HGNC:11180" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011893", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11100004" }, "publicationId": "PMID:11719382" }, "phenotypeStatement": "Abnormal leukocyte count", "dateAssigned": "2016-06-13T11:11:26.000-05:00", "objectId": "HGNC:13221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011900", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040559" }, "publicationId": "PMID:10602365" }, "phenotypeStatement": "Hypofibrinogenemia", "dateAssigned": "2016-06-13T17:21:51.000-05:00", "objectId": "HGNC:3661" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506905" }, "publicationId": "PMID:22397267" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2018-02-22T13:40:42.000-06:00", "objectId": "HGNC:4951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004312", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11100022" }, "publicationId": "PMID:17662886" }, "phenotypeStatement": "Abnormal reticulocyte morphology", "dateAssigned": "2016-06-14T11:12:10.000-05:00", "objectId": "HGNC:361" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11100022" }, "publicationId": "PMID:17662886" }, "phenotypeStatement": "Abnormal hemoglobin", "dateAssigned": "2016-06-14T11:12:10.000-05:00", "objectId": "HGNC:361" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11099984" }, "publicationId": "PMID:11434940" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-10T11:18:35.000-05:00", "objectId": "HGNC:9451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829777" }, "publicationId": "PMID:8314010" }, "phenotypeStatement": "Albuminuria", "dateAssigned": "2018-03-14T12:07:23.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100781", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829800" }, "publicationId": "PMID:22876137" }, "phenotypeStatement": "Abnormal sacroiliac joint morphology", "dateAssigned": "2018-03-15T15:30:57.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000478", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829800" }, "publicationId": "PMID:22876137" }, "phenotypeStatement": "Abnormality of the eye", "dateAssigned": "2018-03-15T15:30:57.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011281", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248452" }, "publicationId": "PMID:17353515" }, "phenotypeStatement": "Abnormality of urine catecholamine level", "dateAssigned": "2016-07-07T15:08:51.000-05:00", "objectId": "HGNC:3020" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033522", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827115" }, "publicationId": "PMID:17041941" }, "phenotypeStatement": "Cerebral cavernous malformation", "dateAssigned": "2023-09-21T17:41:55.000-05:00", "objectId": "HGNC:8761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506898" }, "publicationId": "PMID:18595682" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2018-02-21T14:59:20.000-06:00", "objectId": "HGNC:3609" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031506", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483568" }, "publicationId": "PMID:11272094" }, "phenotypeStatement": "Increased circulating T4 concentration", "dateAssigned": "2018-02-21T16:59:57.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011788", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483568" }, "publicationId": "PMID:11272094" }, "phenotypeStatement": "Increased circulating free T3", "dateAssigned": "2018-02-21T16:59:57.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483568" }, "publicationId": "PMID:11272094" }, "phenotypeStatement": "Decreased thyroid-stimulating hormone level", "dateAssigned": "2018-02-21T16:59:57.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008066", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483570" }, "publicationId": "PMID:8841298" }, "phenotypeStatement": "Abnormal blistering of the skin", "dateAssigned": "2018-02-21T17:33:48.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483570" }, "publicationId": "PMID:8841298" }, "phenotypeStatement": "Fever", "dateAssigned": "2018-02-21T17:33:48.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004313", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11053601" }, "publicationId": "PMID:25329329" }, "phenotypeStatement": "Decreased circulating immunoglobulin concentration", "dateAssigned": "2016-07-11T12:16:55.000-05:00", "objectId": "HGNC:2505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11667067" }, "publicationId": "PMID:21667357" }, "phenotypeStatement": "Blue sclerae", "dateAssigned": "2017-01-13T12:20:22.000-06:00", "objectId": "HGNC:2198" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:149735325" }, "publicationId": "PMID:27441995" }, "phenotypeStatement": "Macrocephaly", "dateAssigned": "2021-07-14T10:36:28.000-05:00", "objectId": "HGNC:17098" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002444", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12738222" }, "publicationId": "PMID:15739154" }, "phenotypeStatement": "Hypothalamic hamartoma", "dateAssigned": "2017-01-30T16:00:09.000-06:00", "objectId": "HGNC:4319" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030891", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344876" }, "publicationId": "PMID:25956626" }, "phenotypeStatement": "Periventricular white matter hyperintensities", "dateAssigned": "2016-07-07T10:43:09.000-05:00", "objectId": "HGNC:2032" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893524" }, "publicationId": "PMID:14737040" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2017-12-12T16:59:18.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893524" }, "publicationId": "PMID:14737040" }, "phenotypeStatement": "Albuminuria", "dateAssigned": "2017-12-12T16:59:18.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002846", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893517" }, "publicationId": "PMID:17712558" }, "phenotypeStatement": "Abnormal B cell morphology", "dateAssigned": "2017-12-12T14:52:02.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893524" }, "publicationId": "PMID:14737040" }, "phenotypeStatement": "Impaired glucose tolerance", "dateAssigned": "2017-12-12T16:59:18.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062393" }, "publicationId": "PMID:22578326" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2016-10-11T14:26:58.000-05:00", "objectId": "HGNC:29501" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062393" }, "publicationId": "PMID:22578326" }, "phenotypeStatement": "Ventriculomegaly", "dateAssigned": "2016-10-11T14:26:58.000-05:00", "objectId": "HGNC:29501" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001338", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062393" }, "publicationId": "PMID:22578326" }, "phenotypeStatement": "Partial agenesis of the corpus callosum", "dateAssigned": "2016-10-11T14:26:58.000-05:00", "objectId": "HGNC:29501" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062393" }, "publicationId": "PMID:22578326" }, "phenotypeStatement": "Perisylvian polymicrogyria", "dateAssigned": "2016-10-11T14:26:58.000-05:00", "objectId": "HGNC:29501" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002605", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902620" }, "publicationId": "PMID:28704535" }, "phenotypeStatement": "Hepatic necrosis", "dateAssigned": "2020-12-09T16:36:17.000-06:00", "objectId": "HGNC:18365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002605", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902620" }, "publicationId": "PMID:28704535" }, "phenotypeStatement": "Hepatic necrosis", "dateAssigned": "2020-12-09T16:41:57.000-06:00", "objectId": "HGNC:6190" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031413", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827270" }, "publicationId": "PMID:26655528" }, "phenotypeStatement": "Short telomere length", "dateAssigned": "2023-09-27T09:59:27.000-05:00", "objectId": "HGNC:12830" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001712", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827272" }, "publicationId": "PMID:29626209" }, "phenotypeStatement": "Left ventricular hypertrophy", "dateAssigned": "2023-09-27T10:24:21.000-05:00", "objectId": "HGNC:12830" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800696" }, "publicationId": "PMID:18055790" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-13T17:48:52.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800696" }, "publicationId": "PMID:18055790" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-13T17:48:52.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800696" }, "publicationId": "PMID:18055790" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-03-13T17:48:52.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003581", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800696" }, "publicationId": "PMID:18055790" }, "phenotypeStatement": "Adult onset", "dateAssigned": "2018-03-13T17:48:52.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827143" }, "publicationId": "PMID:20868569" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2023-09-25T11:41:30.000-05:00", "objectId": "HGNC:4931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002633", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827144" }, "publicationId": "PMID:32567246" }, "phenotypeStatement": "Vasculitis", "dateAssigned": "2023-09-25T11:57:44.000-05:00", "objectId": "HGNC:4931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025201", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13432359" }, "publicationId": "PMID:10667478" }, "phenotypeStatement": "Abnormal circulating apolipoprotein concentration", "dateAssigned": "2017-09-27T11:05:31.000-05:00", "objectId": "HGNC:333" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535132" }, "publicationId": "PMID:19773262" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-21T12:31:06.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535132" }, "publicationId": "PMID:19773262" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-21T12:31:06.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535132" }, "publicationId": "PMID:19773262" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-09-21T12:31:06.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401799676" }, "publicationId": "PMID:25606439" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "2023-09-13T14:30:22.000-05:00", "objectId": "HGNC:1869" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401799676" }, "publicationId": "PMID:25606439" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2023-09-13T14:58:58.000-05:00", "objectId": "HGNC:12744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537387" }, "publicationId": "PMID:16453322" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2016-10-03T17:51:40.000-05:00", "objectId": "HGNC:21575" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012758", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537387" }, "publicationId": "PMID:16453322" }, "phenotypeStatement": "Neurodevelopmental delay", "dateAssigned": "2016-10-03T17:51:40.000-05:00", "objectId": "HGNC:21575" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000399", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:737640" }, "publicationId": "PMID:10903124" }, "phenotypeStatement": "Prelingual sensorineural hearing impairment", "dateAssigned": "2016-05-23T15:32:22.000-05:00", "objectId": "HGNC:8515" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001009", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041183" }, "publicationId": "PMID:9245986" }, "phenotypeStatement": "Telangiectasia", "dateAssigned": "2017-12-13T10:35:53.000-06:00", "objectId": "HGNC:3349" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041183" }, "publicationId": "PMID:9245986" }, "phenotypeStatement": "Epistaxis", "dateAssigned": "2017-12-13T10:35:53.000-06:00", "objectId": "HGNC:3349" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006548", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041183" }, "publicationId": "PMID:9245986" }, "phenotypeStatement": "Pulmonary arteriovenous malformation", "dateAssigned": "2017-12-13T10:35:53.000-06:00", "objectId": "HGNC:3349" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001717", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581178" }, "publicationId": "PMID:12426226" }, "phenotypeStatement": "Coronary artery calcification", "dateAssigned": "2016-06-10T15:36:24.000-05:00", "objectId": "HGNC:1603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002605", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902620" }, "publicationId": "PMID:28704535" }, "phenotypeStatement": "Hepatic necrosis", "dateAssigned": "2020-12-09T16:57:41.000-06:00", "objectId": "HGNC:8086" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552281" }, "publicationId": "PMID:15629294" }, "phenotypeStatement": "Hypoplasia of the fovea", "dateAssigned": "2018-04-02T11:38:59.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552281" }, "publicationId": "PMID:15629294" }, "phenotypeStatement": "Aplasia/Hypoplasia of the iris", "dateAssigned": "2018-04-02T11:38:59.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012594", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694362" }, "publicationId": "PMID:15347835" }, "phenotypeStatement": "Moderate albuminuria", "dateAssigned": "2018-05-01T15:35:36.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002419", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901759" }, "publicationId": "PMID:29146704" }, "phenotypeStatement": "Molar tooth sign on MRI", "dateAssigned": "2023-07-06T15:29:04.000-05:00", "objectId": "HGNC:28396" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002293", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694095" }, "publicationId": "PMID:22014031" }, "phenotypeStatement": "Alopecia of scalp", "dateAssigned": "2016-07-07T16:14:26.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10401862" }, "publicationId": "PMID:23357097" }, "phenotypeStatement": "Dementia", "dateAssigned": "2016-07-07T17:14:09.000-05:00", "objectId": "HGNC:2082" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010732", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:734912" }, "publicationId": "PMID:11929856" }, "phenotypeStatement": "Nodular changes affecting the eyelids", "dateAssigned": "2016-05-23T14:32:38.000-05:00", "objectId": "HGNC:3153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:734912" }, "publicationId": "PMID:11929856" }, "phenotypeStatement": "Palmar hyperkeratosis", "dateAssigned": "2016-05-23T14:33:21.000-05:00", "objectId": "HGNC:3153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008777", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:734912" }, "publicationId": "PMID:11929856" }, "phenotypeStatement": "Abnormal vocal cord morphology", "dateAssigned": "2016-05-23T14:34:14.000-05:00", "objectId": "HGNC:3153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100702", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062393" }, "publicationId": "PMID:22578326" }, "phenotypeStatement": "Arachnoid cyst", "dateAssigned": "2016-10-11T14:26:58.000-05:00", "objectId": "HGNC:29501" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002282", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062393" }, "publicationId": "PMID:22578326" }, "phenotypeStatement": "Gray matter heterotopia", "dateAssigned": "2016-10-11T14:26:58.000-05:00", "objectId": "HGNC:29501" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007033", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062393" }, "publicationId": "PMID:22578326" }, "phenotypeStatement": "Cerebellar dysplasia", "dateAssigned": "2016-10-11T14:26:58.000-05:00", "objectId": "HGNC:29501" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001268", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13209007" }, "publicationId": "PMID:27178001" }, "phenotypeStatement": "Mental deterioration", "dateAssigned": "2017-08-28T15:30:10.000-05:00", "objectId": "HGNC:17089" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030604", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421532" }, "publicationId": "PMID:11918626" }, "phenotypeStatement": "Abnormal fundus fluorescein angiography", "dateAssigned": "2018-02-16T18:08:09.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907371" }, "publicationId": "PMID:16174285" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2017-12-21T12:12:46.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207058" }, "publicationId": "PMID:19321798" }, "phenotypeStatement": "Esophageal carcinoma", "dateAssigned": "2016-06-13T16:58:49.000-05:00", "objectId": "HGNC:7158" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548641" }, "publicationId": "PMID:9000706" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2018-03-20T12:23:24.000-05:00", "objectId": "HGNC:381" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100653", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421588" }, "publicationId": "PMID:21908482" }, "phenotypeStatement": "Optic neuritis", "dateAssigned": "2018-02-20T12:53:01.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421588" }, "publicationId": "PMID:21908482" }, "phenotypeStatement": "Autoimmune antibody positivity", "dateAssigned": "2018-02-20T12:53:01.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12792219" }, "publicationId": "PMID:19147266" }, "phenotypeStatement": "Small for gestational age", "dateAssigned": "2017-03-09T16:17:07.000-06:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000095", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6903202" }, "publicationId": "PMID:9176854" }, "phenotypeStatement": "Abnormal renal glomerulus morphology", "dateAssigned": "2017-12-19T17:58:27.000-06:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6903202" }, "publicationId": "PMID:9176854" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2017-12-19T17:58:27.000-06:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025201", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6903202" }, "publicationId": "PMID:9176854" }, "phenotypeStatement": "Abnormal circulating apolipoprotein concentration", "dateAssigned": "2017-12-19T17:58:27.000-06:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001882", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11049474" }, "publicationId": "PMID:17957027" }, "phenotypeStatement": "Decreased total leukocyte count", "dateAssigned": "2017-11-29T14:32:58.000-06:00", "objectId": "HGNC:7910" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012432", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147827" }, "publicationId": "PMID:16049290" }, "phenotypeStatement": "Chronic fatigue", "dateAssigned": "2021-06-21T12:31:44.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002289", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6909137" }, "publicationId": "PMID:8077705" }, "phenotypeStatement": "Alopecia universalis", "dateAssigned": "2016-07-07T16:26:00.000-05:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2311642" }, "publicationId": "PMID:17440948" }, "phenotypeStatement": "Dementia", "dateAssigned": "2016-07-07T16:41:36.000-05:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000613", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553227" }, "publicationId": "PMID:11875055" }, "phenotypeStatement": "Photophobia", "dateAssigned": "2018-04-06T16:16:00.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553227" }, "publicationId": "PMID:11875055" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-04-06T16:16:00.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000551", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553227" }, "publicationId": "PMID:11875055" }, "phenotypeStatement": "Color vision defect", "dateAssigned": "2018-04-06T16:16:00.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001103", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553227" }, "publicationId": "PMID:11875055" }, "phenotypeStatement": "Abnormal macular morphology", "dateAssigned": "2018-04-06T16:16:00.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553228" }, "publicationId": "PMID:12859409" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2018-04-06T16:36:55.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007754", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553228" }, "publicationId": "PMID:12859409" }, "phenotypeStatement": "Macular dystrophy", "dateAssigned": "2018-04-06T16:36:55.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553228" }, "publicationId": "PMID:12859409" }, "phenotypeStatement": "Myopia", "dateAssigned": "2018-04-06T16:36:55.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6903233" }, "publicationId": "PMID:10027549" }, "phenotypeStatement": "Dementia", "dateAssigned": "2016-07-07T17:01:25.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10401861" }, "publicationId": "PMID:23781009" }, "phenotypeStatement": "Dementia", "dateAssigned": "2016-07-07T17:11:42.000-05:00", "objectId": "HGNC:2082" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001995", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450480" }, "publicationId": "PMID:22919024" }, "phenotypeStatement": "Hyperchloremic acidosis", "dateAssigned": "2016-06-07T16:40:34.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450480" }, "publicationId": "PMID:22919024" }, "phenotypeStatement": "Abnormality of urine homeostasis", "dateAssigned": "2016-06-07T16:40:34.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002900", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450480" }, "publicationId": "PMID:22919024" }, "phenotypeStatement": "Hypokalemia", "dateAssigned": "2016-06-07T16:40:34.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004445", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450480" }, "publicationId": "PMID:22919024" }, "phenotypeStatement": "Elliptocytosis", "dateAssigned": "2016-06-07T16:40:34.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450480" }, "publicationId": "PMID:22919024" }, "phenotypeStatement": "Failure to thrive", "dateAssigned": "2016-06-07T16:40:34.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012408", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450480" }, "publicationId": "PMID:22919024" }, "phenotypeStatement": "Medullary nephrocalcinosis", "dateAssigned": "2016-06-07T16:40:34.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100569", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13204732" }, "publicationId": "PMID:15834329" }, "phenotypeStatement": "Abnormally ossified vertebrae", "dateAssigned": "2017-07-17T15:01:19.000-05:00", "objectId": "HGNC:3356" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031163", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10402807" }, "publicationId": "PMID:17984249" }, "phenotypeStatement": "Low femoral bone density", "dateAssigned": "2018-12-06T12:57:35.000-06:00", "objectId": "HGNC:6019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000090", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853747" }, "publicationId": "PMID:17564967" }, "phenotypeStatement": "Nephronophthisis", "dateAssigned": "2023-06-15T18:10:57.000-05:00", "objectId": "HGNC:29021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007875", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853747" }, "publicationId": "PMID:17564967" }, "phenotypeStatement": "Congenital blindness", "dateAssigned": "2023-06-15T18:10:57.000-05:00", "objectId": "HGNC:29021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000618", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508689" }, "publicationId": "PMID:19324017" }, "phenotypeStatement": "Blindness", "dateAssigned": "2017-11-28T15:29:38.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11059534" }, "publicationId": "PMID:15805995" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2017-11-28T15:50:40.000-06:00", "objectId": "HGNC:11608" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001880", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11059534" }, "publicationId": "PMID:15805995" }, "phenotypeStatement": "Increased total eosinophil count", "dateAssigned": "2017-11-28T15:50:40.000-06:00", "objectId": "HGNC:11608" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012229", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5683901" }, "publicationId": "PMID:21651918" }, "phenotypeStatement": "CSF pleocytosis", "dateAssigned": "2017-11-29T15:43:07.000-06:00", "objectId": "HGNC:270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011450", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5683901" }, "publicationId": "PMID:21651918" }, "phenotypeStatement": "Unusual CNS infection", "dateAssigned": "2017-11-29T15:43:07.000-06:00", "objectId": "HGNC:270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001302", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12859083" }, "publicationId": "PMID:17584854" }, "phenotypeStatement": "Pachygyria", "dateAssigned": "2017-04-12T09:55:38.000-05:00", "objectId": "HGNC:20766" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012393", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5128884" }, "publicationId": "PMID:20608921" }, "phenotypeStatement": "Allergy", "dateAssigned": "2018-02-22T17:36:44.000-06:00", "objectId": "HGNC:4855" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000836", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9068423" }, "publicationId": "PMID:22816799" }, "phenotypeStatement": "Hyperthyroidism", "dateAssigned": "2018-05-09T16:35:15.000-05:00", "objectId": "HGNC:5981" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771565" }, "publicationId": "PMID:15890549" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-03-06T17:05:20.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684344" }, "publicationId": "PMID:16054804" }, "phenotypeStatement": "Atypical behavior", "dateAssigned": "2017-11-29T16:11:28.000-06:00", "objectId": "HGNC:11588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684348" }, "publicationId": "PMID:15381080" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2017-11-29T16:22:22.000-06:00", "objectId": "HGNC:11588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005162", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581177" }, "publicationId": "PMID:12719858" }, "phenotypeStatement": "Abnormal left ventricular function", "dateAssigned": "2016-06-10T15:22:48.000-05:00", "objectId": "HGNC:1603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13592606" }, "publicationId": "PMID:25207168" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2018-05-14T16:15:53.000-05:00", "objectId": "HGNC:6137" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207049" }, "publicationId": "PMID:17893005" }, "phenotypeStatement": "Abnormal EKG", "dateAssigned": "2018-01-08T13:34:54.000-06:00", "objectId": "HGNC:7176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500020", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207049" }, "publicationId": "PMID:17893005" }, "phenotypeStatement": "Abnormal cardiac biomarker test", "dateAssigned": "2018-01-08T13:34:54.000-06:00", "objectId": "HGNC:7176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005145", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207049" }, "publicationId": "PMID:17893005" }, "phenotypeStatement": "Coronary artery stenosis", "dateAssigned": "2018-01-08T13:42:12.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012122", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329902077" }, "publicationId": "PMID:26794091" }, "phenotypeStatement": "Anterior uveitis", "dateAssigned": "2023-06-30T14:43:51.000-05:00", "objectId": "HGNC:5358" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10401872" }, "publicationId": "PMID:23912676" }, "phenotypeStatement": "Dementia", "dateAssigned": "2016-07-07T17:24:06.000-05:00", "objectId": "HGNC:2082" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551856" }, "publicationId": "PMID:23734086" }, "phenotypeStatement": "Aplasia/Hypoplasia of the iris", "dateAssigned": "2018-03-29T12:15:29.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000666", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551856" }, "publicationId": "PMID:23734086" }, "phenotypeStatement": "Horizontal nystagmus", "dateAssigned": "2018-03-29T12:15:29.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004327", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551856" }, "publicationId": "PMID:23734086" }, "phenotypeStatement": "Abnormal vitreous humor morphology", "dateAssigned": "2018-03-29T12:15:29.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000539", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552263" }, "publicationId": "PMID:21589860" }, "phenotypeStatement": "Abnormality of refraction", "dateAssigned": "2018-04-02T09:56:03.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002031", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207058" }, "publicationId": "PMID:19321798" }, "phenotypeStatement": "Abnormal esophagus morphology", "dateAssigned": "2018-01-08T14:16:41.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506898" }, "publicationId": "PMID:18595682" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2018-02-21T14:57:26.000-06:00", "objectId": "HGNC:3611" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771573" }, "publicationId": "PMID:20069064" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-03-06T17:23:34.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771573" }, "publicationId": "PMID:20069064" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-06T17:23:34.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771573" }, "publicationId": "PMID:20069064" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-06T17:23:34.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000689", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560491" }, "publicationId": "PMID:25928877" }, "phenotypeStatement": "Dental malocclusion", "dateAssigned": "2016-11-08T16:11:08.000-06:00", "objectId": "HGNC:22140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560491" }, "publicationId": "PMID:25928877" }, "phenotypeStatement": "Gingival overgrowth", "dateAssigned": "2016-11-08T16:11:08.000-06:00", "objectId": "HGNC:22140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560491" }, "publicationId": "PMID:25928877" }, "phenotypeStatement": "High palate", "dateAssigned": "2016-11-08T16:11:08.000-06:00", "objectId": "HGNC:22140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401194" }, "publicationId": "PMID:12860809" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-14T14:55:33.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401194" }, "publicationId": "PMID:12860809" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-14T14:55:33.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001138", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401194" }, "publicationId": "PMID:12860809" }, "phenotypeStatement": "Optic neuropathy", "dateAssigned": "2018-02-14T14:55:33.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671442" }, "publicationId": "PMID:29446443" }, "phenotypeStatement": "Hepatitis", "dateAssigned": "2020-04-27T12:01:17.000-05:00", "objectId": "HGNC:6330" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901816" }, "publicationId": "PMID:27087001" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-06-27T11:29:49.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401164" }, "publicationId": "PMID:17197538" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-13T17:12:01.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401164" }, "publicationId": "PMID:17197538" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-02-13T17:12:01.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008619", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548458" }, "publicationId": "PMID:23767834" }, "phenotypeStatement": "Bilateral sensorineural hearing impairment", "dateAssigned": "2018-03-20T12:09:16.000-05:00", "objectId": "HGNC:12601" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548678" }, "publicationId": "PMID:15569136" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-03-21T11:44:26.000-05:00", "objectId": "HGNC:381" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401245" }, "publicationId": "PMID:16431959" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-14T17:17:22.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401245" }, "publicationId": "PMID:16431959" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-14T17:17:22.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001138", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401245" }, "publicationId": "PMID:16431959" }, "phenotypeStatement": "Optic neuropathy", "dateAssigned": "2018-02-14T17:17:22.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004328", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7794822" }, "publicationId": "PMID:21151336" }, "phenotypeStatement": "Abnormal anterior eye segment morphology", "dateAssigned": "2018-03-12T14:51:59.000-05:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002605", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902620" }, "publicationId": "PMID:28704535" }, "phenotypeStatement": "Hepatic necrosis", "dateAssigned": "2020-12-09T16:59:12.000-06:00", "objectId": "HGNC:19383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012781", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655611" }, "publicationId": "PMID:19895330" }, "phenotypeStatement": "Mid-frequency hearing loss", "dateAssigned": "2018-04-12T14:08:27.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13432029" }, "publicationId": "PMID:27065588" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2017-09-13T09:23:21.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553846" }, "publicationId": "PMID:25719200" }, "phenotypeStatement": "Microcornea", "dateAssigned": "2016-10-14T13:10:00.000-05:00", "objectId": "HGNC:6758" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553846" }, "publicationId": "PMID:25719200" }, "phenotypeStatement": "Cataract", "dateAssigned": "2016-10-14T13:10:00.000-05:00", "objectId": "HGNC:6758" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002652", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553846" }, "publicationId": "PMID:25719200" }, "phenotypeStatement": "Skeletal dysplasia", "dateAssigned": "2016-10-14T13:10:00.000-05:00", "objectId": "HGNC:6758" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410371", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671442" }, "publicationId": "PMID:29446443" }, "phenotypeStatement": "Increased hepatitis C virus antibody level", "dateAssigned": "2020-04-27T12:01:17.000-05:00", "objectId": "HGNC:6330" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394834" }, "publicationId": "PMID:19784393" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-13T15:57:04.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394834" }, "publicationId": "PMID:19784393" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-02-13T15:57:04.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394834" }, "publicationId": "PMID:19784393" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2018-02-13T15:57:04.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401163" }, "publicationId": "PMID:19145250" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-13T16:59:57.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401163" }, "publicationId": "PMID:19145250" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-02-13T16:59:57.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002615", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2311695" }, "publicationId": "PMID:19509012" }, "phenotypeStatement": "Hypotension", "dateAssigned": "2009-07-30T15:08:44.000-05:00", "objectId": "HGNC:9958" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001265", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1300358" }, "publicationId": "PMID:11889465" }, "phenotypeStatement": "Hyporeflexia", "dateAssigned": "2016-06-08T10:31:23.000-05:00", "objectId": "HGNC:3571" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005419", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358439" }, "publicationId": "PMID:12824768" }, "phenotypeStatement": "Decreased T cell activation", "dateAssigned": "2016-06-08T15:08:38.000-05:00", "objectId": "HGNC:1673" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11099982" }, "publicationId": "PMID:18691915" }, "phenotypeStatement": "Persistence of hemoglobin F", "dateAssigned": "2016-06-09T17:10:13.000-05:00", "objectId": "HGNC:13221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011839", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358439" }, "publicationId": "PMID:12824768" }, "phenotypeStatement": "Abnormal total T cell count", "dateAssigned": "2016-06-08T15:08:38.000-05:00", "objectId": "HGNC:1673" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483574" }, "publicationId": "PMID:15761416" }, "phenotypeStatement": "Inflammatory abnormality of the skin", "dateAssigned": "2018-02-23T13:56:25.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001635", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827100" }, "publicationId": "PMID:17428358" }, "phenotypeStatement": "Congestive heart failure", "dateAssigned": "2023-09-20T10:37:15.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033522", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827108" }, "publicationId": "PMID:27737651" }, "phenotypeStatement": "Cerebral cavernous malformation", "dateAssigned": "2023-09-21T10:16:31.000-05:00", "objectId": "HGNC:8761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003701", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601409" }, "publicationId": "PMID:16437557" }, "phenotypeStatement": "Proximal muscle weakness", "dateAssigned": "2018-02-14T14:12:21.000-06:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001284", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601409" }, "publicationId": "PMID:16437557" }, "phenotypeStatement": "Areflexia", "dateAssigned": "2018-02-14T14:12:21.000-06:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009830", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601409" }, "publicationId": "PMID:16437557" }, "phenotypeStatement": "Peripheral neuropathy", "dateAssigned": "2018-02-14T14:12:21.000-06:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002011", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421588" }, "publicationId": "PMID:21908482" }, "phenotypeStatement": "Morphological central nervous system abnormality", "dateAssigned": "2018-02-20T12:35:58.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002921", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421588" }, "publicationId": "PMID:21908482" }, "phenotypeStatement": "Abnormal cerebrospinal fluid morphology", "dateAssigned": "2018-02-20T12:35:58.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012405", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506826" }, "publicationId": "PMID:23561848" }, "phenotypeStatement": "Hypocitraturia", "dateAssigned": "2018-02-20T14:18:47.000-06:00", "objectId": "HGNC:10979" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012638", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421588" }, "publicationId": "PMID:21908482" }, "phenotypeStatement": "Abnormal nervous system physiology", "dateAssigned": "2018-02-20T12:35:58.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893477" }, "publicationId": "PMID:21046286" }, "phenotypeStatement": "Abnormal bladder morphology", "dateAssigned": "2017-12-12T13:08:54.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535130" }, "publicationId": "PMID:20378560" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-21T12:17:18.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535130" }, "publicationId": "PMID:20378560" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-21T12:17:18.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535130" }, "publicationId": "PMID:20378560" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-09-21T12:17:18.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207077" }, "publicationId": "PMID:17986285" }, "phenotypeStatement": "Abnormal bladder morphology", "dateAssigned": "2018-01-08T16:01:02.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010299", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910984" }, "publicationId": "PMID:11175790" }, "phenotypeStatement": "Abnormal dentin morphology", "dateAssigned": "2017-07-05T14:14:10.000-05:00", "objectId": "HGNC:3054" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005101", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910984" }, "publicationId": "PMID:11175790" }, "phenotypeStatement": "High-frequency hearing impairment", "dateAssigned": "2017-07-05T14:14:10.000-05:00", "objectId": "HGNC:3054" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344289" }, "publicationId": "PMID:26741362" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-04T23:25:36.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771539" }, "publicationId": "PMID:16123422" }, "phenotypeStatement": "Headache", "dateAssigned": "2018-03-06T14:58:18.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771564" }, "publicationId": "PMID:21114134" }, "phenotypeStatement": "Arterial stenosis", "dateAssigned": "2018-03-06T16:48:19.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506794" }, "publicationId": "PMID:19097921" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2018-02-15T11:22:08.000-06:00", "objectId": "HGNC:8976" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506794" }, "publicationId": "PMID:19097921" }, "phenotypeStatement": "Hypoinsulinemia", "dateAssigned": "2018-02-15T11:22:08.000-06:00", "objectId": "HGNC:8976" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421508" }, "publicationId": "PMID:11317356" }, "phenotypeStatement": "Cochlear malformation", "dateAssigned": "2018-02-15T17:37:15.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775044" }, "publicationId": "PMID:15333482" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-03-07T17:03:44.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001138", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394814" }, "publicationId": "PMID:22933836" }, "phenotypeStatement": "Optic neuropathy", "dateAssigned": "2018-02-13T11:44:18.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394814" }, "publicationId": "PMID:22933836" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-13T11:44:19.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003581", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394814" }, "publicationId": "PMID:22933836" }, "phenotypeStatement": "Adult onset", "dateAssigned": "2018-02-13T11:44:19.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001052", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:734495" }, "publicationId": "PMID:14639529" }, "phenotypeStatement": "Nevus flammeus", "dateAssigned": "2016-05-23T13:49:08.000-05:00", "objectId": "HGNC:9871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040185", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13464128" }, "publicationId": "PMID:28131619" }, "phenotypeStatement": "Macrothrombocytopenia", "dateAssigned": "2017-12-22T11:45:04.000-06:00", "objectId": "HGNC:4444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003540", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13464128" }, "publicationId": "PMID:28131619" }, "phenotypeStatement": "Impaired platelet aggregation", "dateAssigned": "2017-12-22T11:45:04.000-06:00", "objectId": "HGNC:4444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009919", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547984" }, "publicationId": "PMID:17096365" }, "phenotypeStatement": "Retinoblastoma", "dateAssigned": "2019-06-25T12:43:17.000-05:00", "objectId": "HGNC:9884" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009919", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547986" }, "publicationId": "PMID:12402348" }, "phenotypeStatement": "Retinoblastoma", "dateAssigned": "2019-06-25T12:44:40.000-05:00", "objectId": "HGNC:9884" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040988" }, "publicationId": "PMID:11295474" }, "phenotypeStatement": "Autoimmune neutropenia", "dateAssigned": "2017-12-14T12:09:02.000-06:00", "objectId": "HGNC:3616" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506796" }, "publicationId": "PMID:17991425" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2018-02-15T16:18:27.000-06:00", "objectId": "HGNC:8973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506796" }, "publicationId": "PMID:17991425" }, "phenotypeStatement": "Hypoinsulinemia", "dateAssigned": "2018-02-15T16:18:27.000-06:00", "objectId": "HGNC:8973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506790" }, "publicationId": "PMID:20939869" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2018-02-15T16:36:00.000-06:00", "objectId": "HGNC:7965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012465", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26923907" }, "publicationId": "PMID:19731237" }, "phenotypeStatement": "Elevated hepatic iron concentration", "dateAssigned": "2020-05-12T11:38:06.000-05:00", "objectId": "HGNC:11180" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14398839" }, "publicationId": "PMID:30160782" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-06-21T12:46:37.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005202", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285393" }, "publicationId": "PMID:9506344" }, "phenotypeStatement": "Helicobacter pylori infection", "dateAssigned": "2021-06-21T12:44:11.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827096" }, "publicationId": "PMID:24767290" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-09-20T09:04:27.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655573" }, "publicationId": "PMID:21921984" }, "phenotypeStatement": "Abnormal lens morphology", "dateAssigned": "2018-04-12T13:22:41.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030534", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655573" }, "publicationId": "PMID:21921984" }, "phenotypeStatement": "Abnormal best corrected visual acuity test", "dateAssigned": "2018-04-12T13:22:40.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329950498" }, "publicationId": "PMID:36869404" }, "phenotypeStatement": "Abnormal systemic blood pressure", "dateAssigned": "2023-07-05T16:46:42.000-05:00", "objectId": "HGNC:14358" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11099969" }, "publicationId": "PMID:23541515" }, "phenotypeStatement": "Abnormal hemoglobin", "dateAssigned": "2016-06-09T12:07:29.000-05:00", "objectId": "HGNC:13221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11099970" }, "publicationId": "PMID:18667698" }, "phenotypeStatement": "Persistence of hemoglobin F", "dateAssigned": "2016-06-09T12:38:20.000-05:00", "objectId": "HGNC:13221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040063", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2313161" }, "publicationId": "PMID:16634992" }, "phenotypeStatement": "Decreased adipose tissue", "dateAssigned": "2018-02-05T11:29:03.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901832" }, "publicationId": "PMID:25202455" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2023-06-27T12:29:54.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901837" }, "publicationId": "PMID:28035729" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2023-06-27T13:18:13.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2314000" }, "publicationId": "PMID:11554767" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "2009-10-30T11:34:03.000-05:00", "objectId": "HGNC:330" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040217", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506796" }, "publicationId": "PMID:17991425" }, "phenotypeStatement": "Elevated hemoglobin A1c", "dateAssigned": "2018-02-15T16:17:55.000-06:00", "objectId": "HGNC:8973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2301863" }, "publicationId": "PMID:18332101" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2008-11-05T10:26:52.000-06:00", "objectId": "HGNC:4195" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11099989" }, "publicationId": "PMID:25748729" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-10T13:21:29.000-05:00", "objectId": "HGNC:9451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012153", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401799621" }, "publicationId": "PMID:24448738" }, "phenotypeStatement": "Hypotriglyceridemia", "dateAssigned": "2023-09-12T11:11:04.000-05:00", "objectId": "HGNC:12744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601296" }, "publicationId": "PMID:17186458" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2008-11-05T13:37:39.000-06:00", "objectId": "HGNC:4195" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2301885" }, "publicationId": "PMID:8200207" }, "phenotypeStatement": "Impaired glucose tolerance", "dateAssigned": "2008-11-05T15:27:55.000-06:00", "objectId": "HGNC:4195" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7495846" }, "publicationId": "PMID:19279659" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2018-03-06T13:54:41.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7495846" }, "publicationId": "PMID:19279659" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2018-03-06T13:54:41.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002092", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853313" }, "publicationId": "PMID:30029678" }, "phenotypeStatement": "Pulmonary arterial hypertension", "dateAssigned": "2023-06-14T12:53:01.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005145", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421529" }, "publicationId": "PMID:8564837" }, "phenotypeStatement": "Coronary artery stenosis", "dateAssigned": "2018-02-16T12:13:42.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421533" }, "publicationId": "PMID:17973941" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-02-16T18:15:34.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394831" }, "publicationId": "PMID:20107173" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-13T15:31:39.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394841" }, "publicationId": "PMID:19688280" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-13T16:23:49.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394841" }, "publicationId": "PMID:19688280" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-13T16:23:49.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001138", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394841" }, "publicationId": "PMID:19688280" }, "phenotypeStatement": "Optic neuropathy", "dateAssigned": "2018-02-13T16:23:49.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411543" }, "publicationId": "PMID:19509082" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2018-02-15T13:40:10.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011376", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411543" }, "publicationId": "PMID:19509082" }, "phenotypeStatement": "Abnormal morphology of the vestibule of the inner ear", "dateAssigned": "2018-02-15T13:40:10.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012191", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147794" }, "publicationId": "PMID:16234023" }, "phenotypeStatement": "B-cell lymphoma", "dateAssigned": "2021-06-21T12:37:53.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25671462" }, "publicationId": "PMID:17438651" }, "phenotypeStatement": "Abnormality of urine homeostasis", "dateAssigned": "2020-04-27T13:49:39.000-05:00", "objectId": "HGNC:7645" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401254" }, "publicationId": "PMID:18334962" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-02-15T13:23:46.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401254" }, "publicationId": "PMID:18334962" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-15T13:23:46.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401254" }, "publicationId": "PMID:18334962" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-15T13:23:46.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011376", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421508" }, "publicationId": "PMID:11317356" }, "phenotypeStatement": "Abnormal morphology of the vestibule of the inner ear", "dateAssigned": "2018-02-15T17:25:41.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853770" }, "publicationId": "PMID:33539617" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2023-06-20T14:09:19.000-05:00", "objectId": "HGNC:6149" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002720", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11528572" }, "publicationId": "PMID:16166103" }, "phenotypeStatement": "Decreased circulating IgA concentration", "dateAssigned": "2016-08-16T10:51:23.000-05:00", "objectId": "HGNC:6014" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025022", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11528572" }, "publicationId": "PMID:16166103" }, "phenotypeStatement": "Decreased erythrocyte sedimentation rate", "dateAssigned": "2016-08-16T10:51:23.000-05:00", "objectId": "HGNC:6014" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030534", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488949" }, "publicationId": "PMID:7781744" }, "phenotypeStatement": "Abnormal best corrected visual acuity test", "dateAssigned": "2018-02-23T17:08:27.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488949" }, "publicationId": "PMID:7781744" }, "phenotypeStatement": "Abnormal lens morphology", "dateAssigned": "2018-02-23T17:08:27.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000790", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344910" }, "publicationId": "PMID:22700162" }, "phenotypeStatement": "Hematuria", "dateAssigned": "2016-07-08T11:33:30.000-05:00", "objectId": "HGNC:2505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344910" }, "publicationId": "PMID:22700162" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2016-07-08T11:33:30.000-05:00", "objectId": "HGNC:2505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11063991" }, "publicationId": "PMID:17397051" }, "phenotypeStatement": "Cystic renal dysplasia", "dateAssigned": "2023-07-06T13:55:46.000-05:00", "objectId": "HGNC:28396" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002011", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11063991" }, "publicationId": "PMID:17397051" }, "phenotypeStatement": "Morphological central nervous system abnormality", "dateAssigned": "2023-07-06T13:55:46.000-05:00", "objectId": "HGNC:28396" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031433", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11352995" }, "publicationId": "PMID:26609890" }, "phenotypeStatement": "Alexithymia", "dateAssigned": "2020-08-10T16:56:29.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2311139" }, "publicationId": "PMID:18564365" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2009-06-26T14:35:07.000-05:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007373", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482791" }, "publicationId": "PMID:17827064" }, "phenotypeStatement": "Motor neuron atrophy", "dateAssigned": "2016-07-08T10:33:01.000-05:00", "objectId": "HGNC:6181" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553198" }, "publicationId": "PMID:17893654" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-04-10T10:52:31.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506790" }, "publicationId": "PMID:20939869" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2018-02-15T16:34:53.000-06:00", "objectId": "HGNC:7965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655862" }, "publicationId": "PMID:8815157" }, "phenotypeStatement": "Muscle weakness", "dateAssigned": "2016-07-08T11:10:26.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008527", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421510" }, "publicationId": "PMID:14508505" }, "phenotypeStatement": "Congenital sensorineural hearing impairment", "dateAssigned": "2018-02-16T11:21:47.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000820", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421510" }, "publicationId": "PMID:14508505" }, "phenotypeStatement": "Abnormality of the thyroid gland", "dateAssigned": "2018-02-16T11:21:47.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002031", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207058" }, "publicationId": "PMID:19321798" }, "phenotypeStatement": "Abnormal esophagus morphology", "dateAssigned": "2018-01-08T15:18:30.000-06:00", "objectId": "HGNC:7158" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207064" }, "publicationId": "PMID:19221176" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2018-01-08T15:39:10.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771542" }, "publicationId": "PMID:21670344" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-06T15:52:57.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827819" }, "publicationId": "PMID:25529925" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2023-09-28T16:37:00.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421572" }, "publicationId": "PMID:10468909" }, "phenotypeStatement": "Decreased thyroid-stimulating hormone level", "dateAssigned": "2018-02-19T13:10:08.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421572" }, "publicationId": "PMID:10468909" }, "phenotypeStatement": "Thyroid hyperplasia", "dateAssigned": "2018-02-19T13:10:08.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031506", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421572" }, "publicationId": "PMID:10468909" }, "phenotypeStatement": "Increased circulating T4 concentration", "dateAssigned": "2018-02-19T13:10:08.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011788", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421572" }, "publicationId": "PMID:10468909" }, "phenotypeStatement": "Increased circulating free T3", "dateAssigned": "2018-02-19T13:10:08.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827819" }, "publicationId": "PMID:25529925" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2023-09-28T16:28:54.000-05:00", "objectId": "HGNC:8125" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012779", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9479161" }, "publicationId": "PMID:20230791" }, "phenotypeStatement": "Transient hearing impairment", "dateAssigned": "2016-05-23T15:55:57.000-05:00", "objectId": "HGNC:8515" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011899", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364778" }, "publicationId": "PMID:22906475" }, "phenotypeStatement": "Hyperfibrinogenemia", "dateAssigned": "2013-09-27T10:21:55.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394828" }, "publicationId": "PMID:20806035" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-02-13T14:54:54.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401170" }, "publicationId": "PMID:21655360" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-13T17:58:53.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401170" }, "publicationId": "PMID:21655360" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-02-13T17:58:53.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401170" }, "publicationId": "PMID:21655360" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-13T17:58:53.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394828" }, "publicationId": "PMID:20806035" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-13T14:54:54.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394828" }, "publicationId": "PMID:20806035" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-13T14:54:54.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000121", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450480" }, "publicationId": "PMID:22919024" }, "phenotypeStatement": "Nephrocalcinosis", "dateAssigned": "2018-08-01T12:47:52.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040081", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11063285" }, "publicationId": "PMID:17994539" }, "phenotypeStatement": "Abnormal circulating creatine kinase concentration", "dateAssigned": "2017-01-19T18:49:50.000-06:00", "objectId": "HGNC:17997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600473" }, "publicationId": "PMID:12434312" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-06-08T15:53:19.000-05:00", "objectId": "HGNC:1713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200143", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11081155" }, "publicationId": "PMID:16098079" }, "phenotypeStatement": "Megaloblastic erythroid hyperplasia", "dateAssigned": "2016-06-08T16:25:29.000-05:00", "objectId": "HGNC:1713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000618", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508712" }, "publicationId": "PMID:2018041" }, "phenotypeStatement": "Blindness", "dateAssigned": "2017-11-28T15:31:24.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030878", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11059534" }, "publicationId": "PMID:15805995" }, "phenotypeStatement": "Abnormality on pulmonary function testing", "dateAssigned": "2017-11-28T15:46:59.000-06:00", "objectId": "HGNC:6016" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490236" }, "publicationId": "PMID:17454741" }, "phenotypeStatement": "Sudden loss of visual acuity", "dateAssigned": "2017-11-30T12:40:58.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490236" }, "publicationId": "PMID:17454741" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2017-11-30T12:40:58.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490236" }, "publicationId": "PMID:17454741" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2017-11-30T12:40:58.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002419", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553937" }, "publicationId": "PMID:18674751" }, "phenotypeStatement": "Molar tooth sign on MRI", "dateAssigned": "2016-10-18T15:48:03.000-05:00", "objectId": "HGNC:25419" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001928", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600407" }, "publicationId": "PMID:7901207" }, "phenotypeStatement": "Abnormality of coagulation", "dateAssigned": "2016-06-16T14:14:11.000-05:00", "objectId": "HGNC:6383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394816" }, "publicationId": "PMID:22736945" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-13T11:51:45.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394816" }, "publicationId": "PMID:22736945" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-13T11:51:45.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394816" }, "publicationId": "PMID:22736945" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-02-13T11:51:45.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002570", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344905" }, "publicationId": "PMID:19268275" }, "phenotypeStatement": "Steatorrhea", "dateAssigned": "2016-07-08T13:28:59.000-05:00", "objectId": "HGNC:16232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344905" }, "publicationId": "PMID:19268275" }, "phenotypeStatement": "Abnormal hemoglobin", "dateAssigned": "2016-07-08T13:28:59.000-05:00", "objectId": "HGNC:16232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001744", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344905" }, "publicationId": "PMID:19268275" }, "phenotypeStatement": "Splenomegaly", "dateAssigned": "2016-07-08T13:28:59.000-05:00", "objectId": "HGNC:16232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344905" }, "publicationId": "PMID:19268275" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2016-07-08T13:28:59.000-05:00", "objectId": "HGNC:16232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429660" }, "publicationId": "PMID:21274863" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-09-14T13:59:13.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11059535" }, "publicationId": "PMID:12000493" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2017-11-16T13:03:49.000-06:00", "objectId": "HGNC:11608" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344905" }, "publicationId": "PMID:19268275" }, "phenotypeStatement": "Hyperbilirubinemia", "dateAssigned": "2016-07-08T13:28:59.000-05:00", "objectId": "HGNC:16232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002594", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344905" }, "publicationId": "PMID:19268275" }, "phenotypeStatement": "Pancreatic hypoplasia", "dateAssigned": "2016-07-08T13:28:59.000-05:00", "objectId": "HGNC:16232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004359", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344905" }, "publicationId": "PMID:19268275" }, "phenotypeStatement": "Abnormal circulating fatty-acid concentration", "dateAssigned": "2016-07-08T13:28:59.000-05:00", "objectId": "HGNC:16232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893657" }, "publicationId": "PMID:16828193" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2017-12-19T17:12:38.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401168" }, "publicationId": "PMID:22879734" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-13T17:26:54.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401168" }, "publicationId": "PMID:22879734" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-02-13T17:26:54.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401168" }, "publicationId": "PMID:22879734" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-02-13T17:26:54.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2313948" }, "publicationId": "PMID:17310220" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2009-10-28T14:28:51.000-05:00", "objectId": "HGNC:607" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004408", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13432568" }, "publicationId": "PMID:28523222" }, "phenotypeStatement": "Abnormality of the sense of smell", "dateAssigned": "2017-09-29T15:30:02.000-05:00", "objectId": "HGNC:8607" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5510024" }, "publicationId": "PMID:17362997" }, "phenotypeStatement": "Lewy bodies", "dateAssigned": "2017-11-29T15:17:12.000-06:00", "objectId": "HGNC:270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5510024" }, "publicationId": "PMID:17362997" }, "phenotypeStatement": "Resting tremor", "dateAssigned": "2017-11-29T15:17:12.000-06:00", "objectId": "HGNC:270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5510024" }, "publicationId": "PMID:17362997" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2017-11-29T15:17:12.000-06:00", "objectId": "HGNC:270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483012" }, "publicationId": "PMID:7920659" }, "phenotypeStatement": "Ventriculomegaly", "dateAssigned": "2017-12-04T15:31:08.000-06:00", "objectId": "HGNC:6470" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483012" }, "publicationId": "PMID:7920659" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2017-12-04T15:31:08.000-06:00", "objectId": "HGNC:6470" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002167", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483012" }, "publicationId": "PMID:7920659" }, "phenotypeStatement": "Abnormal speech pattern", "dateAssigned": "2017-12-04T15:31:08.000-06:00", "objectId": "HGNC:6470" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483012" }, "publicationId": "PMID:7920659" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2017-12-04T15:31:08.000-06:00", "objectId": "HGNC:6470" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2308929" }, "publicationId": "PMID:19034419" }, "phenotypeStatement": "Abnormal glucose homeostasis", "dateAssigned": "2017-10-19T11:43:41.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002037", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5685660" }, "publicationId": "PMID:17206692" }, "phenotypeStatement": "Inflammation of the large intestine", "dateAssigned": "2017-11-30T16:41:35.000-06:00", "objectId": "HGNC:602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025085", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5685660" }, "publicationId": "PMID:17206692" }, "phenotypeStatement": "Bloody diarrhea", "dateAssigned": "2017-11-30T16:41:35.000-06:00", "objectId": "HGNC:602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401175" }, "publicationId": "PMID:15483649" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-14T11:07:02.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401175" }, "publicationId": "PMID:15483649" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-02-14T11:07:02.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401175" }, "publicationId": "PMID:15483649" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-14T11:07:02.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401186" }, "publicationId": "PMID:12442283" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-14T11:22:13.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401186" }, "publicationId": "PMID:12442283" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-02-14T11:22:13.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401186" }, "publicationId": "PMID:12442283" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-14T11:22:13.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401189" }, "publicationId": "PMID:12189160" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-14T12:13:58.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401189" }, "publicationId": "PMID:12189160" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-02-14T12:13:58.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012715", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411559" }, "publicationId": "PMID:20128824" }, "phenotypeStatement": "Profound hearing impairment", "dateAssigned": "2018-02-15T13:57:43.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506790" }, "publicationId": "PMID:20939869" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "2018-02-15T16:36:37.000-06:00", "objectId": "HGNC:7965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506790" }, "publicationId": "PMID:20939869" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2018-02-15T16:39:21.000-06:00", "objectId": "HGNC:7965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033522", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827103" }, "publicationId": "PMID:16284570" }, "phenotypeStatement": "Cerebral cavernous malformation", "dateAssigned": "2023-09-20T15:52:26.000-05:00", "objectId": "HGNC:8761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012089", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827100" }, "publicationId": "PMID:17428358" }, "phenotypeStatement": "Arteritis", "dateAssigned": "2023-09-20T10:40:42.000-05:00", "objectId": "HGNC:4931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008897", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13434923" }, "publicationId": "PMID:26320891" }, "phenotypeStatement": "Postnatal growth retardation", "dateAssigned": "2017-10-09T12:13:30.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13434923" }, "publicationId": "PMID:26320891" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "2017-10-09T12:13:30.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002566", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801473" }, "publicationId": "PMID:27481450" }, "phenotypeStatement": "Intestinal malrotation", "dateAssigned": "2017-04-03T16:28:58.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000973", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13434923" }, "publicationId": "PMID:26320891" }, "phenotypeStatement": "Cutis laxa", "dateAssigned": "2017-10-09T12:13:30.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13434923" }, "publicationId": "PMID:26320891" }, "phenotypeStatement": "Dermal translucency", "dateAssigned": "2017-10-09T12:13:30.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13434923" }, "publicationId": "PMID:26320891" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2017-10-09T12:13:30.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13434923" }, "publicationId": "PMID:26320891" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2017-10-09T12:17:06.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040214", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2308929" }, "publicationId": "PMID:19034419" }, "phenotypeStatement": "Abnormal circulating insulin concentration", "dateAssigned": "2017-10-19T11:43:41.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038785" }, "publicationId": "PMID:11692167" }, "phenotypeStatement": "Calcinosis cutis", "dateAssigned": "2019-03-19T15:01:07.000-05:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490247" }, "publicationId": "PMID:9309689" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2017-11-28T13:28:11.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490247" }, "publicationId": "PMID:9309689" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2017-11-28T13:28:11.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490247" }, "publicationId": "PMID:9309689" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2017-11-28T13:28:11.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684895" }, "publicationId": "PMID:10930169" }, "phenotypeStatement": "Abdominal obesity", "dateAssigned": "2017-11-30T15:31:36.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003077", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684895" }, "publicationId": "PMID:10930169" }, "phenotypeStatement": "Hyperlipidemia", "dateAssigned": "2017-11-30T15:31:36.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684895" }, "publicationId": "PMID:10930169" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2017-11-30T15:31:36.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401189" }, "publicationId": "PMID:12189160" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-14T12:13:58.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401247" }, "publicationId": "PMID:16401791" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-14T17:28:30.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401247" }, "publicationId": "PMID:16401791" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-14T17:28:30.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001138", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401247" }, "publicationId": "PMID:16401791" }, "phenotypeStatement": "Optic neuropathy", "dateAssigned": "2018-02-14T17:28:30.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011376", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411669" }, "publicationId": "PMID:19645628" }, "phenotypeStatement": "Abnormal morphology of the vestibule of the inner ear", "dateAssigned": "2018-02-15T16:24:41.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012715", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411669" }, "publicationId": "PMID:19645628" }, "phenotypeStatement": "Profound hearing impairment", "dateAssigned": "2018-02-15T16:24:41.000-06:00", "objectId": "HGNC:8818" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004841", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041769" }, "publicationId": "PMID:11248286" }, "phenotypeStatement": "Reduced factor XII activity", "dateAssigned": "2017-12-11T11:23:08.000-06:00", "objectId": "HGNC:3530" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827096" }, "publicationId": "PMID:24767290" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-09-20T09:00:49.000-05:00", "objectId": "HGNC:4931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5685674" }, "publicationId": "PMID:9062353" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2017-11-30T17:13:08.000-06:00", "objectId": "HGNC:610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5685674" }, "publicationId": "PMID:9062353" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2017-11-30T17:13:08.000-06:00", "objectId": "HGNC:610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401248" }, "publicationId": "PMID:17893668" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-02-15T12:10:17.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401248" }, "publicationId": "PMID:17893668" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-02-15T12:10:18.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401248" }, "publicationId": "PMID:17893668" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-02-15T12:10:18.000-06:00", "objectId": "HGNC:7610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001943", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506790" }, "publicationId": "PMID:20939869" }, "phenotypeStatement": "Hypoglycemia", "dateAssigned": "2018-02-15T16:34:25.000-06:00", "objectId": "HGNC:7965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008283", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506790" }, "publicationId": "PMID:20939869" }, "phenotypeStatement": "Fasting hyperinsulinemia", "dateAssigned": "2018-02-15T16:34:25.000-06:00", "objectId": "HGNC:7965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210521" }, "publicationId": "PMID:15389764" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2017-09-01T16:56:24.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210521" }, "publicationId": "PMID:15389764" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2017-09-01T16:56:24.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000752", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210521" }, "publicationId": "PMID:15389764" }, "phenotypeStatement": "Hyperactivity", "dateAssigned": "2017-09-01T16:56:24.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010865", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210521" }, "publicationId": "PMID:15389764" }, "phenotypeStatement": "Oppositional defiant disorder", "dateAssigned": "2017-09-01T16:56:24.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011788", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657095" }, "publicationId": "PMID:17891478" }, "phenotypeStatement": "Increased circulating free T3", "dateAssigned": "2014-05-30T11:57:39.000-05:00", "objectId": "HGNC:40" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000694", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12911015" }, "publicationId": "PMID:15690376" }, "phenotypeStatement": "Odontodysplasia", "dateAssigned": "2017-07-05T16:06:14.000-05:00", "objectId": "HGNC:3054" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12911015" }, "publicationId": "PMID:15690376" }, "phenotypeStatement": "Yellow-brown discoloration of the teeth", "dateAssigned": "2017-07-05T16:06:14.000-05:00", "objectId": "HGNC:3054" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002061", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12859091" }, "publicationId": "PMID:15452312" }, "phenotypeStatement": "Lower limb spasticity", "dateAssigned": "2017-04-12T15:05:01.000-05:00", "objectId": "HGNC:6323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2292502" }, "publicationId": "PMID:17700571" }, "phenotypeStatement": "Abnormal prostate morphology", "dateAssigned": "2017-04-12T16:15:47.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000769", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2292517" }, "publicationId": "PMID:9399897" }, "phenotypeStatement": "Abnormality of the breast", "dateAssigned": "2017-04-12T16:31:47.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827097" }, "publicationId": "PMID:33126849" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2023-09-20T09:37:07.000-05:00", "objectId": "HGNC:4931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012089", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827100" }, "publicationId": "PMID:17428358" }, "phenotypeStatement": "Arteritis", "dateAssigned": "2023-09-20T10:35:50.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000618", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508187" }, "publicationId": "PMID:20454697" }, "phenotypeStatement": "Blindness", "dateAssigned": "2017-11-28T15:29:00.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003623", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853760" }, "publicationId": "PMID:32054482" }, "phenotypeStatement": "Neonatal onset", "dateAssigned": "2023-06-20T11:27:42.000-05:00", "objectId": "HGNC:6149" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004887", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853760" }, "publicationId": "PMID:32054482" }, "phenotypeStatement": "Respiratory failure requiring assisted ventilation", "dateAssigned": "2023-06-20T11:28:16.000-05:00", "objectId": "HGNC:6149" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002092", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853735" }, "publicationId": "PMID:29650961" }, "phenotypeStatement": "Pulmonary arterial hypertension", "dateAssigned": "2023-06-15T12:35:14.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771543" }, "publicationId": "PMID:19815736" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-06T16:07:22.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771567" }, "publicationId": "PMID:16284093" }, "phenotypeStatement": "Arterial stenosis", "dateAssigned": "2018-03-06T17:11:39.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002061", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12793061" }, "publicationId": "PMID:18245137" }, "phenotypeStatement": "Lower limb spasticity", "dateAssigned": "2017-03-20T12:05:51.000-05:00", "objectId": "HGNC:6323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010549", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12793061" }, "publicationId": "PMID:18245137" }, "phenotypeStatement": "Weakness due to upper motor neuron dysfunction", "dateAssigned": "2017-03-20T12:05:51.000-05:00", "objectId": "HGNC:6323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003549", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553861" }, "publicationId": "PMID:18985159" }, "phenotypeStatement": "Abnormality of connective tissue", "dateAssigned": "2016-10-14T16:14:42.000-05:00", "objectId": "HGNC:20859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553861" }, "publicationId": "PMID:18985159" }, "phenotypeStatement": "Multiple skeletal anomalies", "dateAssigned": "2016-10-14T16:14:43.000-05:00", "objectId": "HGNC:20859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405866368" }, "publicationId": "PMID:32736537" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2024-06-27T21:09:15.000-05:00", "objectId": "HGNC:11782" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910131" }, "publicationId": "PMID:22876116" }, "phenotypeStatement": "Myopia", "dateAssigned": "2017-06-13T14:48:18.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001083", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910131" }, "publicationId": "PMID:22876116" }, "phenotypeStatement": "Ectopia lentis", "dateAssigned": "2017-06-13T14:48:18.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000501", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910131" }, "publicationId": "PMID:22876116" }, "phenotypeStatement": "Glaucoma", "dateAssigned": "2017-06-13T14:48:18.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827819" }, "publicationId": "PMID:25529925" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2023-09-28T16:25:58.000-05:00", "objectId": "HGNC:12830" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012184", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901805" }, "publicationId": "PMID:12788852" }, "phenotypeStatement": "Increased HDL cholesterol concentration", "dateAssigned": "2023-06-26T12:56:06.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012211", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901759" }, "publicationId": "PMID:29146704" }, "phenotypeStatement": "Abnormal renal physiology", "dateAssigned": "2023-06-22T11:59:35.000-05:00", "objectId": "HGNC:29021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041754" }, "publicationId": "PMID:19922436" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2019-04-10T04:27:21.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001878", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041754" }, "publicationId": "PMID:19922436" }, "phenotypeStatement": "Hemolytic anemia", "dateAssigned": "2019-04-10T04:27:22.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001923", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041754" }, "publicationId": "PMID:19922436" }, "phenotypeStatement": "Reticulocytosis", "dateAssigned": "2019-04-10T04:27:22.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012638", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041754" }, "publicationId": "PMID:19922436" }, "phenotypeStatement": "Abnormal nervous system physiology", "dateAssigned": "2019-04-10T04:27:22.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552301" }, "publicationId": "PMID:22550392" }, "phenotypeStatement": "Hypoplasia of the fovea", "dateAssigned": "2018-04-03T10:36:46.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000639", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552301" }, "publicationId": "PMID:22550392" }, "phenotypeStatement": "Nystagmus", "dateAssigned": "2018-04-03T10:36:46.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552301" }, "publicationId": "PMID:22550392" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-04-03T10:36:46.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578411" }, "publicationId": "PMID:12676816" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2017-12-01T13:05:28.000-06:00", "objectId": "HGNC:602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207065" }, "publicationId": "PMID:17125518" }, "phenotypeStatement": "Abnormal large intestine morphology", "dateAssigned": "2018-01-08T15:51:32.000-06:00", "objectId": "HGNC:7173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207048" }, "publicationId": "PMID:20616161" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2018-01-08T12:49:20.000-06:00", "objectId": "HGNC:7173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207056" }, "publicationId": "PMID:19843588" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2018-01-08T14:00:47.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007302", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405866353" }, "publicationId": "PMID:30121446" }, "phenotypeStatement": "Bipolar affective disorder", "dateAssigned": "2024-06-27T14:41:55.000-05:00", "objectId": "HGNC:8847" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893468" }, "publicationId": "PMID:22111818" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2017-12-11T17:00:58.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000095", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893468" }, "publicationId": "PMID:22111818" }, "phenotypeStatement": "Abnormal renal glomerulus morphology", "dateAssigned": "2017-12-11T17:00:58.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552674" }, "publicationId": "PMID:11420783" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2014-04-24T12:30:44.000-05:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012443", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490235" }, "publicationId": "PMID:15466014" }, "phenotypeStatement": "Abnormal brain morphology", "dateAssigned": "2017-11-27T17:38:43.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007359", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490235" }, "publicationId": "PMID:15466014" }, "phenotypeStatement": "Focal-onset seizure", "dateAssigned": "2017-11-27T17:38:43.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002490", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490235" }, "publicationId": "PMID:15466014" }, "phenotypeStatement": "Increased CSF lactate", "dateAssigned": "2017-11-27T17:38:43.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002923", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344974" }, "publicationId": "PMID:25154742" }, "phenotypeStatement": "Rheumatoid factor positive", "dateAssigned": "2016-07-11T16:50:20.000-05:00", "objectId": "HGNC:3619" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000992", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344974" }, "publicationId": "PMID:25154742" }, "phenotypeStatement": "Cutaneous photosensitivity", "dateAssigned": "2016-07-11T16:50:20.000-05:00", "objectId": "HGNC:3619" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004431", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344974" }, "publicationId": "PMID:25154742" }, "phenotypeStatement": "Reduced circulating complement concentration", "dateAssigned": "2016-07-11T16:50:20.000-05:00", "objectId": "HGNC:3619" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011840", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344978" }, "publicationId": "PMID:26162572" }, "phenotypeStatement": "Abnormal T cell physiology", "dateAssigned": "2016-07-11T17:55:41.000-05:00", "objectId": "HGNC:11935" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005372", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344978" }, "publicationId": "PMID:26162572" }, "phenotypeStatement": "Abnormal B cell physiology", "dateAssigned": "2016-07-11T17:55:41.000-05:00", "objectId": "HGNC:11935" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401585" }, "publicationId": "PMID:20961200" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2019-07-03T16:01:10.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401587" }, "publicationId": "PMID:27397503" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-07-03T17:49:05.000-05:00", "objectId": "HGNC:3579" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001433", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401587" }, "publicationId": "PMID:27397503" }, "phenotypeStatement": "Hepatosplenomegaly", "dateAssigned": "2019-07-03T17:49:05.000-05:00", "objectId": "HGNC:3579" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011991", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251737" }, "publicationId": "PMID:23942539" }, "phenotypeStatement": "Abnormal total neutrophil count", "dateAssigned": "2016-06-21T10:49:28.000-05:00", "objectId": "HGNC:3012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401799676" }, "publicationId": "PMID:25606439" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2023-09-13T14:48:22.000-05:00", "objectId": "HGNC:18001" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684892" }, "publicationId": "PMID:15318095" }, "phenotypeStatement": "Chronic hepatitis", "dateAssigned": "2017-11-30T14:26:54.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001403", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684892" }, "publicationId": "PMID:15318095" }, "phenotypeStatement": "Macrovesicular hepatic steatosis", "dateAssigned": "2017-11-30T14:26:54.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5685678" }, "publicationId": "PMID:7958503" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2017-11-30T17:36:10.000-06:00", "objectId": "HGNC:602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000618", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508685" }, "publicationId": "PMID:11479733" }, "phenotypeStatement": "Blindness", "dateAssigned": "2017-11-28T15:30:07.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401799676" }, "publicationId": "PMID:25606439" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "2023-09-13T14:50:03.000-05:00", "objectId": "HGNC:12744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207048" }, "publicationId": "PMID:20616161" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2018-01-08T13:10:16.000-06:00", "objectId": "HGNC:7176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030860", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358439" }, "publicationId": "PMID:12824768" }, "phenotypeStatement": "Abnormal CSF amyloid concentration", "dateAssigned": "2016-06-08T13:18:03.000-05:00", "objectId": "HGNC:933" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2317357" }, "publicationId": "PMID:20019189" }, "phenotypeStatement": "Abnormal liver sonography", "dateAssigned": "2017-10-23T12:05:04.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012760", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12832751" }, "publicationId": "PMID:15805158" }, "phenotypeStatement": "Reduced social responsiveness", "dateAssigned": "2017-04-12T16:27:56.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12832751" }, "publicationId": "PMID:15805158" }, "phenotypeStatement": "Motor stereotypy", "dateAssigned": "2017-04-12T16:27:56.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004328", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488955" }, "publicationId": "PMID:18334963" }, "phenotypeStatement": "Abnormal anterior eye segment morphology", "dateAssigned": "2018-03-01T17:31:46.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000593", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488955" }, "publicationId": "PMID:18334963" }, "phenotypeStatement": "Abnormal anterior chamber morphology", "dateAssigned": "2018-03-01T17:43:26.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488955" }, "publicationId": "PMID:18334963" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-01T17:43:26.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340558" }, "publicationId": "PMID:25576295" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2021-08-14T00:46:15.000-05:00", "objectId": "HGNC:5383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340609" }, "publicationId": "PMID:19188433" }, "phenotypeStatement": "Autoimmune antibody positivity", "dateAssigned": "2021-08-18T14:57:12.000-05:00", "objectId": "HGNC:6081" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007994", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599608" }, "publicationId": "PMID:11875050" }, "phenotypeStatement": "Peripheral visual field loss", "dateAssigned": "2017-11-27T17:21:47.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599608" }, "publicationId": "PMID:11875050" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2017-11-27T17:21:47.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599608" }, "publicationId": "PMID:11875050" }, "phenotypeStatement": "Abnormal electroretinogram", "dateAssigned": "2017-11-27T17:21:47.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000340", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13450906" }, "publicationId": "PMID:26436113" }, "phenotypeStatement": "Sloping forehead", "dateAssigned": "2017-11-08T10:29:45.000-06:00", "objectId": "HGNC:18672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13450906" }, "publicationId": "PMID:26436113" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2017-11-08T10:29:45.000-06:00", "objectId": "HGNC:18672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13450906" }, "publicationId": "PMID:26436113" }, "phenotypeStatement": "Delayed skeletal maturation", "dateAssigned": "2017-11-08T10:29:45.000-06:00", "objectId": "HGNC:18672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002705", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13450906" }, "publicationId": "PMID:26436113" }, "phenotypeStatement": "High, narrow palate", "dateAssigned": "2017-11-08T10:29:45.000-06:00", "objectId": "HGNC:18672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13450906" }, "publicationId": "PMID:26436113" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2017-11-08T10:29:45.000-06:00", "objectId": "HGNC:18672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488955" }, "publicationId": "PMID:18334963" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-03-01T17:31:46.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488955" }, "publicationId": "PMID:18334963" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-01T17:31:46.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000444", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13450906" }, "publicationId": "PMID:26436113" }, "phenotypeStatement": "Convex nasal ridge", "dateAssigned": "2017-11-08T10:29:45.000-06:00", "objectId": "HGNC:18672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11051966" }, "publicationId": "PMID:21591983" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2019-04-10T04:05:09.000-05:00", "objectId": "HGNC:5991" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030859", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578361" }, "publicationId": "PMID:16112028" }, "phenotypeStatement": "Anti-topoisomerase I antibody positivity", "dateAssigned": "2016-06-08T16:05:38.000-05:00", "objectId": "HGNC:43" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030859", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578361" }, "publicationId": "PMID:16112028" }, "phenotypeStatement": "Anti-topoisomerase I antibody positivity", "dateAssigned": "2016-06-08T16:05:38.000-05:00", "objectId": "HGNC:44" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003540", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578439" }, "publicationId": "PMID:7929844" }, "phenotypeStatement": "Impaired platelet aggregation", "dateAssigned": "2016-06-08T16:20:25.000-05:00", "objectId": "HGNC:11608" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401587" }, "publicationId": "PMID:27397503" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2019-07-03T17:49:05.000-05:00", "objectId": "HGNC:3579" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002011", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11352421" }, "publicationId": "PMID:27087320" }, "phenotypeStatement": "Morphological central nervous system abnormality", "dateAssigned": "2023-06-08T11:22:22.000-05:00", "objectId": "HGNC:9965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012638", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11352421" }, "publicationId": "PMID:27087320" }, "phenotypeStatement": "Abnormal nervous system physiology", "dateAssigned": "2023-06-08T11:22:22.000-05:00", "objectId": "HGNC:9965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011950", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902982" }, "publicationId": "PMID:23487427" }, "phenotypeStatement": "Bronchiolitis", "dateAssigned": "2021-06-18T13:15:22.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068998" }, "publicationId": "PMID:20876469" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2017-05-11T13:21:11.000-05:00", "objectId": "HGNC:11444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483459" }, "publicationId": "PMID:21445332" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2019-03-13T12:29:54.000-05:00", "objectId": "HGNC:6953" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483459" }, "publicationId": "PMID:21445332" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2019-03-13T12:29:54.000-05:00", "objectId": "HGNC:6953" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007703", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365121" }, "publicationId": "PMID:3341436" }, "phenotypeStatement": "Abnormal retinal pigmentation", "dateAssigned": "2016-10-25T13:19:56.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011531", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365121" }, "publicationId": "PMID:3341436" }, "phenotypeStatement": "Vitritis", "dateAssigned": "2016-10-25T13:19:56.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011505", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365121" }, "publicationId": "PMID:3341436" }, "phenotypeStatement": "Cystoid macular edema", "dateAssigned": "2016-10-25T13:19:56.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008046", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365121" }, "publicationId": "PMID:3341436" }, "phenotypeStatement": "Abnormal retinal vascular morphology", "dateAssigned": "2016-10-25T13:19:56.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365121" }, "publicationId": "PMID:3341436" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2016-10-25T13:19:56.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11530064" }, "publicationId": "PMID:18396436" }, "phenotypeStatement": "Anemia", "dateAssigned": "2016-08-24T09:43:08.000-05:00", "objectId": "HGNC:6922" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001629", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11556206" }, "publicationId": "PMID:19619907" }, "phenotypeStatement": "Ventricular septal defect", "dateAssigned": "2016-10-27T11:30:29.000-05:00", "objectId": "HGNC:15924" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012696", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9835035" }, "publicationId": "PMID:19118815" }, "phenotypeStatement": "Abnormal thalamic MRI signal intensity", "dateAssigned": "2018-07-18T11:21:42.000-05:00", "objectId": "HGNC:9630" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000481", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488957" }, "publicationId": "PMID:15273656" }, "phenotypeStatement": "Abnormal cornea morphology", "dateAssigned": "2018-03-02T14:58:14.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000709", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358563" }, "publicationId": "PMID:12851458" }, "phenotypeStatement": "Psychosis", "dateAssigned": "2017-08-29T17:34:09.000-05:00", "objectId": "HGNC:9316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358556" }, "publicationId": "PMID:11835385" }, "phenotypeStatement": "Seizure", "dateAssigned": "2017-08-25T18:02:30.000-05:00", "objectId": "HGNC:8820" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11099973" }, "publicationId": "PMID:25842369" }, "phenotypeStatement": "Persistence of hemoglobin F", "dateAssigned": "2016-06-09T13:41:26.000-05:00", "objectId": "HGNC:13221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002634", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2313876" }, "publicationId": "PMID:16760910" }, "phenotypeStatement": "Arteriosclerosis", "dateAssigned": "2017-10-19T12:59:23.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000408", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599382" }, "publicationId": "PMID:12393799" }, "phenotypeStatement": "Progressive sensorineural hearing impairment", "dateAssigned": "2016-06-13T16:10:42.000-05:00", "objectId": "HGNC:2799" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005789", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560486" }, "publicationId": "PMID:17924334" }, "phenotypeStatement": "Generalized osteosclerosis", "dateAssigned": "2016-11-08T10:24:08.000-06:00", "objectId": "HGNC:22140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030314", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560486" }, "publicationId": "PMID:17924334" }, "phenotypeStatement": "Periostosis", "dateAssigned": "2016-11-08T10:24:08.000-06:00", "objectId": "HGNC:22140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007430", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907374" }, "publicationId": "PMID:14758530" }, "phenotypeStatement": "Generalized edema", "dateAssigned": "2017-12-21T12:37:37.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012597", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907374" }, "publicationId": "PMID:14758530" }, "phenotypeStatement": "Heavy proteinuria", "dateAssigned": "2017-12-21T12:37:37.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003073", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907374" }, "publicationId": "PMID:14758530" }, "phenotypeStatement": "Hypoalbuminemia", "dateAssigned": "2017-12-21T12:37:37.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907374" }, "publicationId": "PMID:14758530" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2017-12-21T12:37:37.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001927", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450481" }, "publicationId": "PMID:22126643" }, "phenotypeStatement": "Acanthocytosis", "dateAssigned": "2016-06-07T17:54:31.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11532675" }, "publicationId": "PMID:20354562" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2016-09-02T15:14:27.000-05:00", "objectId": "HGNC:315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11532678" }, "publicationId": "PMID:26868664" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2016-09-02T15:44:24.000-05:00", "objectId": "HGNC:315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11059534" }, "publicationId": "PMID:15805995" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2017-11-28T15:29:04.000-06:00", "objectId": "HGNC:6016" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000618", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490236" }, "publicationId": "PMID:17454741" }, "phenotypeStatement": "Blindness", "dateAssigned": "2017-11-28T15:32:19.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100502", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11049582" }, "publicationId": "PMID:14695536" }, "phenotypeStatement": "Decreased circulating vitamin B12 concentration", "dateAssigned": "2017-11-28T17:05:16.000-06:00", "objectId": "HGNC:4268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005219", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11049582" }, "publicationId": "PMID:14695536" }, "phenotypeStatement": "Absence of intrinsic factor", "dateAssigned": "2017-11-28T17:05:17.000-06:00", "objectId": "HGNC:4268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12792244" }, "publicationId": "PMID:23173169" }, "phenotypeStatement": "Small for gestational age", "dateAssigned": "2017-03-13T15:42:02.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329902060" }, "publicationId": "PMID:15452033" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2023-06-29T15:17:21.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002092", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853326" }, "publicationId": "PMID:33952808" }, "phenotypeStatement": "Pulmonary arterial hypertension", "dateAssigned": "2023-06-14T16:45:35.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030876", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853326" }, "publicationId": "PMID:33952808" }, "phenotypeStatement": "Increased pulmonary capillary wedge pressure", "dateAssigned": "2023-06-14T16:45:35.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005317", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853326" }, "publicationId": "PMID:33952808" }, "phenotypeStatement": "Increased pulmonary vascular resistance", "dateAssigned": "2023-06-14T16:45:35.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002380", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:737689" }, "publicationId": "PMID:8446170" }, "phenotypeStatement": "Fasciculations", "dateAssigned": "2017-08-25T15:10:38.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001757", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1300214" }, "publicationId": "PMID:9843210" }, "phenotypeStatement": "High-frequency sensorineural hearing impairment", "dateAssigned": "2017-08-25T15:21:24.000-05:00", "objectId": "HGNC:4285" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001317", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684015" }, "publicationId": "PMID:11448935" }, "phenotypeStatement": "Abnormal cerebellum morphology", "dateAssigned": "2017-11-29T16:09:06.000-06:00", "objectId": "HGNC:11588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000539", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657390" }, "publicationId": "PMID:17653045" }, "phenotypeStatement": "Abnormality of refraction", "dateAssigned": "2018-04-19T11:07:26.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578473" }, "publicationId": "PMID:15448617" }, "phenotypeStatement": "Abnormal lens morphology", "dateAssigned": "2017-09-13T11:57:17.000-05:00", "objectId": "HGNC:4277" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11064664" }, "publicationId": "PMID:9792862" }, "phenotypeStatement": "Elevated intracellular cystine", "dateAssigned": "2017-06-27T16:25:11.000-05:00", "objectId": "HGNC:2518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688714" }, "publicationId": "PMID:21338583" }, "phenotypeStatement": "Resting tremor", "dateAssigned": "2017-12-01T17:10:51.000-06:00", "objectId": "HGNC:14348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007994", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5144221" }, "publicationId": "PMID:11875049" }, "phenotypeStatement": "Peripheral visual field loss", "dateAssigned": "2017-11-27T17:22:44.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5144221" }, "publicationId": "PMID:11875049" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2017-11-27T17:22:44.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5144221" }, "publicationId": "PMID:11875049" }, "phenotypeStatement": "Abnormal electroretinogram", "dateAssigned": "2017-11-27T17:22:44.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11069114" }, "publicationId": "PMID:18728072" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2017-04-13T09:35:57.000-05:00", "objectId": "HGNC:20766" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000992", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:18937001" }, "publicationId": "PMID:30454868" }, "phenotypeStatement": "Cutaneous photosensitivity", "dateAssigned": "2020-01-28T14:46:20.000-06:00", "objectId": "HGNC:12592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535122" }, "publicationId": "PMID:19191325" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-21T11:47:05.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535122" }, "publicationId": "PMID:19191325" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-21T11:47:05.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535122" }, "publicationId": "PMID:19191325" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-09-21T11:47:05.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001245", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535122" }, "publicationId": "PMID:19191325" }, "phenotypeStatement": "Small thenar eminence", "dateAssigned": "2016-09-21T11:47:05.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11069114" }, "publicationId": "PMID:18728072" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2017-04-13T09:35:57.000-05:00", "objectId": "HGNC:20766" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001900", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041573" }, "publicationId": "PMID:18650473" }, "phenotypeStatement": "Increased circulating hemoglobin concentration", "dateAssigned": "2017-12-12T15:51:52.000-06:00", "objectId": "HGNC:3374" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001898", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041573" }, "publicationId": "PMID:18650473" }, "phenotypeStatement": "Increased red blood cell mass", "dateAssigned": "2017-12-12T15:51:52.000-06:00", "objectId": "HGNC:3374" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000479", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365119" }, "publicationId": "PMID:2801857" }, "phenotypeStatement": "Abnormal retinal morphology", "dateAssigned": "2018-02-06T17:09:57.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4891034" }, "publicationId": "PMID:10904024" }, "phenotypeStatement": "Abnormal systemic blood pressure", "dateAssigned": "2011-01-03T17:52:34.000-06:00", "objectId": "HGNC:1030" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006254", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401587" }, "publicationId": "PMID:27397503" }, "phenotypeStatement": "Elevated circulating alpha-fetoprotein concentration", "dateAssigned": "2019-07-03T17:49:05.000-05:00", "objectId": "HGNC:3579" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694381" }, "publicationId": "PMID:20097100" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-05-03T13:59:04.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100649", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530486" }, "publicationId": "PMID:21393552" }, "phenotypeStatement": "Neoplasm of the oral cavity", "dateAssigned": "2021-12-13T15:24:31.000-06:00", "objectId": "HGNC:4617" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030591", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560485" }, "publicationId": "PMID:22531706" }, "phenotypeStatement": "Abnormal kinetic perimetry test", "dateAssigned": "2016-11-08T10:20:21.000-06:00", "objectId": "HGNC:19689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030588", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560485" }, "publicationId": "PMID:22531706" }, "phenotypeStatement": "Abnormal visual field test", "dateAssigned": "2016-11-08T10:20:21.000-06:00", "objectId": "HGNC:19689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030466", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560485" }, "publicationId": "PMID:22531706" }, "phenotypeStatement": "Abnormal full-field electroretinogram", "dateAssigned": "2016-11-08T10:20:21.000-06:00", "objectId": "HGNC:19689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030612", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560485" }, "publicationId": "PMID:22531706" }, "phenotypeStatement": "Abnormal retinal morphology on macular OCT", "dateAssigned": "2016-11-08T10:20:21.000-06:00", "objectId": "HGNC:19689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030566", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560485" }, "publicationId": "PMID:22531706" }, "phenotypeStatement": "Best corrected visual acuity 1.3 LogMAR", "dateAssigned": "2016-11-08T10:20:21.000-06:00", "objectId": "HGNC:19689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560486" }, "publicationId": "PMID:17924334" }, "phenotypeStatement": "Thoracic hypoplasia", "dateAssigned": "2016-11-08T10:24:08.000-06:00", "objectId": "HGNC:22140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003236", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11530903" }, "publicationId": "PMID:26310427" }, "phenotypeStatement": "Elevated circulating creatine kinase concentration", "dateAssigned": "2018-06-27T10:22:28.000-05:00", "objectId": "HGNC:22932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011314", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801468" }, "publicationId": "PMID:22387015" }, "phenotypeStatement": "Abnormal long bone morphology", "dateAssigned": "2017-04-03T13:23:22.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003173", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801468" }, "publicationId": "PMID:22387015" }, "phenotypeStatement": "Hypoplastic pubic bone", "dateAssigned": "2017-04-03T13:23:22.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005474", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801468" }, "publicationId": "PMID:22387015" }, "phenotypeStatement": "Decreased calvarial ossification", "dateAssigned": "2017-04-03T13:23:22.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006710", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801468" }, "publicationId": "PMID:22387015" }, "phenotypeStatement": "Aplasia/Hypoplasia of the clavicles", "dateAssigned": "2017-04-03T13:23:22.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7794821" }, "publicationId": "PMID:20335620" }, "phenotypeStatement": "Abnormal lens morphology", "dateAssigned": "2018-03-12T14:38:20.000-05:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030532", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7794821" }, "publicationId": "PMID:20335620" }, "phenotypeStatement": "Visual acuity test abnormality", "dateAssigned": "2018-03-12T14:38:20.000-05:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893521" }, "publicationId": "PMID:19837268" }, "phenotypeStatement": "Abnormality of the bladder", "dateAssigned": "2017-12-12T14:56:16.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893522" }, "publicationId": "PMID:19520684" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2017-12-12T15:34:02.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893522" }, "publicationId": "PMID:19520684" }, "phenotypeStatement": "Elevated circulating creatinine concentration", "dateAssigned": "2017-12-12T15:34:02.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893546" }, "publicationId": "PMID:19346876" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2017-12-12T17:57:51.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207058" }, "publicationId": "PMID:19321798" }, "phenotypeStatement": "Esophageal carcinoma", "dateAssigned": "2016-06-13T17:09:21.000-05:00", "objectId": "HGNC:7173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011905", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450507" }, "publicationId": "PMID:16960783" }, "phenotypeStatement": "Reduced hemoglobin A", "dateAssigned": "2018-08-09T12:42:35.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001941", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450507" }, "publicationId": "PMID:16960783" }, "phenotypeStatement": "Acidosis", "dateAssigned": "2018-08-09T12:42:35.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002151", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450507" }, "publicationId": "PMID:16960783" }, "phenotypeStatement": "Increased circulating lactate concentration", "dateAssigned": "2018-08-09T12:42:35.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925150" }, "publicationId": "PMID:20721625" }, "phenotypeStatement": "Gastritis", "dateAssigned": "2021-05-13T13:21:21.000-05:00", "objectId": "HGNC:31533" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100651", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340608" }, "publicationId": "PMID:20535137" }, "phenotypeStatement": "Type I diabetes mellitus", "dateAssigned": "2021-08-18T14:55:16.000-05:00", "objectId": "HGNC:6081" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025022", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11528572" }, "publicationId": "PMID:16166103" }, "phenotypeStatement": "Decreased erythrocyte sedimentation rate", "dateAssigned": "2016-08-16T10:57:04.000-05:00", "objectId": "HGNC:5973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11528572" }, "publicationId": "PMID:16166103" }, "phenotypeStatement": "Decreased circulating beta-2-microglobulin level", "dateAssigned": "2016-08-16T10:57:04.000-05:00", "objectId": "HGNC:5973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030603", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771558" }, "publicationId": "PMID:23276910" }, "phenotypeStatement": "Abnormal optical coherence tomography", "dateAssigned": "2018-03-08T11:27:37.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030604", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7777103" }, "publicationId": "PMID:23776381" }, "phenotypeStatement": "Abnormal fundus fluorescein angiography", "dateAssigned": "2018-03-08T15:47:44.000-06:00", "objectId": "HGNC:6137" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12903960" }, "publicationId": "PMID:18469812" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2017-05-11T13:43:48.000-05:00", "objectId": "HGNC:11444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12903963" }, "publicationId": "PMID:23409955" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2017-05-11T14:46:22.000-05:00", "objectId": "HGNC:11444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100649", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530486" }, "publicationId": "PMID:21393552" }, "phenotypeStatement": "Neoplasm of the oral cavity", "dateAssigned": "2021-12-13T15:29:28.000-06:00", "objectId": "HGNC:12776" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13524555" }, "publicationId": "PMID:1677770" }, "phenotypeStatement": "Myopia", "dateAssigned": "2018-04-19T12:50:15.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007992", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13524555" }, "publicationId": "PMID:1677770" }, "phenotypeStatement": "Lattice retinal degeneration", "dateAssigned": "2018-04-19T12:50:15.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000541", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13524555" }, "publicationId": "PMID:1677770" }, "phenotypeStatement": "Retinal detachment", "dateAssigned": "2018-04-19T12:50:15.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003040", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13524555" }, "publicationId": "PMID:1677770" }, "phenotypeStatement": "Arthropathy", "dateAssigned": "2018-04-19T12:50:15.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10003136" }, "publicationId": "PMID:24150758" }, "phenotypeStatement": "Increased axial length of the globe", "dateAssigned": "2018-07-24T13:58:50.000-05:00", "objectId": "HGNC:9875" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000539", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10003136" }, "publicationId": "PMID:24150758" }, "phenotypeStatement": "Abnormality of refraction", "dateAssigned": "2018-07-24T13:58:50.000-05:00", "objectId": "HGNC:9875" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012211", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11064664" }, "publicationId": "PMID:9792862" }, "phenotypeStatement": "Abnormal renal physiology", "dateAssigned": "2017-06-27T16:25:11.000-05:00", "objectId": "HGNC:2518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005145", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207049" }, "publicationId": "PMID:17893005" }, "phenotypeStatement": "Coronary artery stenosis", "dateAssigned": "2018-01-08T13:40:26.000-06:00", "objectId": "HGNC:7173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207058" }, "publicationId": "PMID:19321798" }, "phenotypeStatement": "Esophageal neoplasm", "dateAssigned": "2018-01-08T15:11:59.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002031", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207058" }, "publicationId": "PMID:19321798" }, "phenotypeStatement": "Abnormal esophagus morphology", "dateAssigned": "2018-01-08T15:15:28.000-06:00", "objectId": "HGNC:7173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207064" }, "publicationId": "PMID:19221176" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2018-01-08T15:41:34.000-06:00", "objectId": "HGNC:7173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548490" }, "publicationId": "PMID:23402891" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2019-05-08T11:20:57.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560491" }, "publicationId": "PMID:25928877" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2016-11-08T16:11:08.000-06:00", "objectId": "HGNC:22140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560491" }, "publicationId": "PMID:25928877" }, "phenotypeStatement": "Midface retrusion", "dateAssigned": "2016-11-08T16:11:08.000-06:00", "objectId": "HGNC:22140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000496", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553818" }, "publicationId": "PMID:18412118" }, "phenotypeStatement": "Abnormality of eye movement", "dateAssigned": "2016-10-13T12:45:03.000-05:00", "objectId": "HGNC:5099" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553818" }, "publicationId": "PMID:18412118" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2016-10-13T12:45:03.000-05:00", "objectId": "HGNC:5099" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000929", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553821" }, "publicationId": "PMID:17875913" }, "phenotypeStatement": "Abnormal skull morphology", "dateAssigned": "2016-10-13T12:58:42.000-05:00", "objectId": "HGNC:5099" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626649" }, "publicationId": "PMID:15992611" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2007-08-14T00:00:00.000-05:00", "objectId": "HGNC:5233" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580364" }, "publicationId": "PMID:14597850" }, "phenotypeStatement": "Abnormal systemic blood pressure", "dateAssigned": "1999-01-01T00:00:00.000-06:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008283", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600756" }, "publicationId": "PMID:12646665" }, "phenotypeStatement": "Fasting hyperinsulinemia", "dateAssigned": "2007-03-26T00:00:00.000-05:00", "objectId": "HGNC:6932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011355", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657064" }, "publicationId": "PMID:20541540" }, "phenotypeStatement": "Localized skin lesion", "dateAssigned": "2019-03-20T13:13:58.000-05:00", "objectId": "HGNC:7166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025082", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657064" }, "publicationId": "PMID:20541540" }, "phenotypeStatement": "Abnormal cutaneous elastic fiber morphology", "dateAssigned": "2019-03-20T13:13:58.000-05:00", "objectId": "HGNC:7166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657064" }, "publicationId": "PMID:20541540" }, "phenotypeStatement": "Abnormal fundus morphology", "dateAssigned": "2019-03-20T13:13:58.000-05:00", "objectId": "HGNC:7166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684421" }, "publicationId": "PMID:10582543" }, "phenotypeStatement": "Abnormal glucose homeostasis", "dateAssigned": "2017-11-29T17:22:56.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775039" }, "publicationId": "PMID:21245953" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-03-07T16:06:45.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775039" }, "publicationId": "PMID:21245953" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-07T16:06:45.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775039" }, "publicationId": "PMID:21245953" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-07T16:06:45.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000836", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365118" }, "publicationId": "PMID:2401095" }, "phenotypeStatement": "Hyperthyroidism", "dateAssigned": "2018-02-06T16:59:51.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688714" }, "publicationId": "PMID:21338583" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2017-12-01T17:10:51.000-06:00", "objectId": "HGNC:14348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688714" }, "publicationId": "PMID:21338583" }, "phenotypeStatement": "Lewy bodies", "dateAssigned": "2017-12-01T17:10:51.000-06:00", "objectId": "HGNC:14348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040195", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9589021" }, "publicationId": "PMID:12046007" }, "phenotypeStatement": "Decreased head circumference", "dateAssigned": "2018-06-28T10:50:07.000-05:00", "objectId": "HGNC:6954" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9589021" }, "publicationId": "PMID:12046007" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2018-06-28T10:50:07.000-05:00", "objectId": "HGNC:6954" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100630", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573694" }, "publicationId": "PMID:16796765" }, "phenotypeStatement": "Neoplasia of the nasopharynx", "dateAssigned": "2022-01-07T12:10:00.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893326" }, "publicationId": "PMID:20064547" }, "phenotypeStatement": "Dementia", "dateAssigned": "2017-12-11T15:00:08.000-06:00", "objectId": "HGNC:7782" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893398" }, "publicationId": "PMID:18692501" }, "phenotypeStatement": "Abnormal gallbladder morphology", "dateAssigned": "2017-12-11T15:16:20.000-06:00", "objectId": "HGNC:23177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893475" }, "publicationId": "PMID:21394321" }, "phenotypeStatement": "Abnormal vascular morphology", "dateAssigned": "2017-12-11T17:54:15.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025323", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893475" }, "publicationId": "PMID:21394321" }, "phenotypeStatement": "Abnormal arterial physiology", "dateAssigned": "2017-12-11T17:54:15.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000539", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552290" }, "publicationId": "PMID:19124844" }, "phenotypeStatement": "Abnormality of refraction", "dateAssigned": "2018-04-02T12:29:19.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552290" }, "publicationId": "PMID:19124844" }, "phenotypeStatement": "Increased axial length of the globe", "dateAssigned": "2018-04-02T12:29:19.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552290" }, "publicationId": "PMID:19124844" }, "phenotypeStatement": "Deep anterior chamber", "dateAssigned": "2018-04-02T12:29:19.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365098" }, "publicationId": "PMID:12694583" }, "phenotypeStatement": "Hyperparathyroidism", "dateAssigned": "2018-02-06T15:11:42.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001635", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684776" }, "publicationId": "PMID:20536507" }, "phenotypeStatement": "Congestive heart failure", "dateAssigned": "2017-11-30T13:10:19.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688381" }, "publicationId": "PMID:15961413" }, "phenotypeStatement": "Resting tremor", "dateAssigned": "2017-12-01T17:03:45.000-06:00", "objectId": "HGNC:14348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688381" }, "publicationId": "PMID:15961413" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2017-12-01T17:03:45.000-06:00", "objectId": "HGNC:14348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684776" }, "publicationId": "PMID:20536507" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2017-11-30T13:10:19.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002160", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2289709" }, "publicationId": "PMID:18064318" }, "phenotypeStatement": "Hyperhomocystinemia", "dateAssigned": "2017-11-15T10:23:43.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005344", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553821" }, "publicationId": "PMID:17875913" }, "phenotypeStatement": "Abnormal carotid artery morphology", "dateAssigned": "2016-10-13T12:58:42.000-05:00", "objectId": "HGNC:5099" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553827" }, "publicationId": "PMID:18394579" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2016-10-13T14:49:38.000-05:00", "objectId": "HGNC:5103" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012649", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5491187" }, "publicationId": "PMID:17661914" }, "phenotypeStatement": "Increased inflammatory response", "dateAssigned": "2011-09-30T17:20:23.000-05:00", "objectId": "HGNC:7067" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004924", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540303" }, "publicationId": "PMID:23674172" }, "phenotypeStatement": "Abnormal oral glucose tolerance", "dateAssigned": "2021-12-31T16:47:56.000-06:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540303" }, "publicationId": "PMID:23674172" }, "phenotypeStatement": "Hypoinsulinemia", "dateAssigned": "2021-12-31T16:48:21.000-06:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207067" }, "publicationId": "PMID:15319295" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2018-01-08T15:55:10.000-06:00", "objectId": "HGNC:7173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012779", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488956" }, "publicationId": "PMID:19643173" }, "phenotypeStatement": "Transient hearing impairment", "dateAssigned": "2018-03-02T13:40:24.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025109", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535987" }, "publicationId": "PMID:11054094" }, "phenotypeStatement": "Reduced red cell pyruvate kinase level", "dateAssigned": "2017-02-13T12:39:03.000-06:00", "objectId": "HGNC:9020" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365110" }, "publicationId": "PMID:8894996" }, "phenotypeStatement": "Abnormal EKG", "dateAssigned": "2018-02-06T16:09:31.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031657", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365110" }, "publicationId": "PMID:8894996" }, "phenotypeStatement": "Abnormal heart sound", "dateAssigned": "2018-02-06T16:09:31.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000759", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12802354" }, "publicationId": "PMID:19246520" }, "phenotypeStatement": "Abnormal peripheral nervous system morphology", "dateAssigned": "2017-04-12T16:44:33.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025196", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694379" }, "publicationId": "PMID:16678024" }, "phenotypeStatement": "Increased total iron binding capacity", "dateAssigned": "2018-05-03T13:31:26.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003281", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694379" }, "publicationId": "PMID:16678024" }, "phenotypeStatement": "Increased circulating ferritin concentration", "dateAssigned": "2018-05-03T13:31:26.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012131", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041638" }, "publicationId": "PMID:9192789" }, "phenotypeStatement": "Abnormal number of erythroid precursors", "dateAssigned": "2017-12-12T14:35:37.000-06:00", "objectId": "HGNC:3416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002846", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252204" }, "publicationId": "PMID:19484764" }, "phenotypeStatement": "Abnormal B cell morphology", "dateAssigned": "2016-06-28T15:38:50.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11053054" }, "publicationId": "PMID:26073892" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2017-09-13T09:55:36.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012153", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25824938" }, "publicationId": "PMID:19208777" }, "phenotypeStatement": "Hypotriglyceridemia", "dateAssigned": "2020-05-06T09:45:07.000-05:00", "objectId": "HGNC:24041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598946" }, "publicationId": "PMID:12204536" }, "phenotypeStatement": "Renal neoplasm", "dateAssigned": "2016-10-20T10:50:00.000-05:00", "objectId": "HGNC:27310" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001302", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537472" }, "publicationId": "PMID:21496009" }, "phenotypeStatement": "Pachygyria", "dateAssigned": "2016-10-05T13:33:42.000-05:00", "objectId": "HGNC:24502" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011355", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038782" }, "publicationId": "PMID:12714611" }, "phenotypeStatement": "Localized skin lesion", "dateAssigned": "2019-03-19T14:41:46.000-05:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038782" }, "publicationId": "PMID:12714611" }, "phenotypeStatement": "Abnormal fundus morphology", "dateAssigned": "2019-03-19T14:41:46.000-05:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598946" }, "publicationId": "PMID:12204536" }, "phenotypeStatement": "Pneumothorax", "dateAssigned": "2016-10-20T10:50:00.000-05:00", "objectId": "HGNC:27310" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598946" }, "publicationId": "PMID:12204536" }, "phenotypeStatement": "Hair follicle neoplasm", "dateAssigned": "2016-10-20T10:50:00.000-05:00", "objectId": "HGNC:27310" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442498" }, "publicationId": "PMID:24131739" }, "phenotypeStatement": "Ureteropelvic junction obstruction", "dateAssigned": "2017-11-06T13:03:00.000-06:00", "objectId": "HGNC:1071" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000572", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775040" }, "publicationId": "PMID:16633797" }, "phenotypeStatement": "Visual loss", "dateAssigned": "2018-03-07T16:42:27.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012379", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25824938" }, "publicationId": "PMID:19208777" }, "phenotypeStatement": "Abnormal circulating enzyme concentration or activity", "dateAssigned": "2020-05-06T09:44:32.000-05:00", "objectId": "HGNC:24041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001397", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25824938" }, "publicationId": "PMID:19208777" }, "phenotypeStatement": "Hepatic steatosis", "dateAssigned": "2020-05-06T09:44:32.000-05:00", "objectId": "HGNC:24041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506818" }, "publicationId": "PMID:24894778" }, "phenotypeStatement": "Seizure", "dateAssigned": "2024-11-21T17:49:51.000-06:00", "objectId": "HGNC:20499" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030038", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11069623" }, "publicationId": "PMID:20577567" }, "phenotypeStatement": "Enchondroma", "dateAssigned": "2017-02-10T15:51:03.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012311", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11066398" }, "publicationId": "PMID:12717436" }, "phenotypeStatement": "Increased total monocyte count", "dateAssigned": "2017-02-10T15:40:13.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100777", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11069623" }, "publicationId": "PMID:20577567" }, "phenotypeStatement": "Exostoses", "dateAssigned": "2017-02-10T15:51:03.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000962", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598970" }, "publicationId": "PMID:12648223" }, "phenotypeStatement": "Hyperkeratosis", "dateAssigned": "2017-01-26T16:52:58.000-06:00", "objectId": "HGNC:4286" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010783", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598970" }, "publicationId": "PMID:12648223" }, "phenotypeStatement": "Erythema", "dateAssigned": "2017-01-26T16:52:58.000-06:00", "objectId": "HGNC:4286" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002637", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893467" }, "publicationId": "PMID:15652605" }, "phenotypeStatement": "Cerebral ischemia", "dateAssigned": "2017-12-11T16:39:32.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033770", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530492" }, "publicationId": "PMID:16890595" }, "phenotypeStatement": "Gastric adenocarcinoma", "dateAssigned": "2021-12-13T22:31:53.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775040" }, "publicationId": "PMID:16633797" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-07T16:42:27.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001085", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775040" }, "publicationId": "PMID:16633797" }, "phenotypeStatement": "Papilledema", "dateAssigned": "2018-03-07T16:42:27.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775040" }, "publicationId": "PMID:16633797" }, "phenotypeStatement": "Marcus Gunn pupil", "dateAssigned": "2018-03-07T16:42:27.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001878", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450506" }, "publicationId": "PMID:9207478" }, "phenotypeStatement": "Hemolytic anemia", "dateAssigned": "2018-08-08T17:13:28.000-05:00", "objectId": "HGNC:5173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005502", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450506" }, "publicationId": "PMID:9207478" }, "phenotypeStatement": "Increased red cell osmotic fragility", "dateAssigned": "2018-08-08T17:13:28.000-05:00", "objectId": "HGNC:5173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002361", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482736" }, "publicationId": "PMID:19138334" }, "phenotypeStatement": "Psychomotor deterioration", "dateAssigned": "2018-12-04T17:35:41.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002445", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482736" }, "publicationId": "PMID:19138334" }, "phenotypeStatement": "Tetraplegia", "dateAssigned": "2018-12-04T17:35:41.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000618", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482736" }, "publicationId": "PMID:19138334" }, "phenotypeStatement": "Blindness", "dateAssigned": "2018-12-04T17:35:41.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482736" }, "publicationId": "PMID:19138334" }, "phenotypeStatement": "Dementia", "dateAssigned": "2018-12-04T17:35:41.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553925" }, "publicationId": "PMID:19753314" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2016-10-18T10:13:41.000-05:00", "objectId": "HGNC:18121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553925" }, "publicationId": "PMID:19753314" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2016-10-18T10:13:41.000-05:00", "objectId": "HGNC:18121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007722", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553925" }, "publicationId": "PMID:19753314" }, "phenotypeStatement": "Retinal pigment epithelial atrophy", "dateAssigned": "2016-10-18T10:13:41.000-05:00", "objectId": "HGNC:18121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4892054" }, "publicationId": "PMID:18086269" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2017-10-23T12:39:58.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100326", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4892054" }, "publicationId": "PMID:18086269" }, "phenotypeStatement": "Immunologic hypersensitivity", "dateAssigned": "2017-10-23T12:39:59.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598878" }, "publicationId": "PMID:16116425" }, "phenotypeStatement": "Oligohydramnios", "dateAssigned": "2017-09-22T11:00:32.000-05:00", "objectId": "HGNC:9958" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000091", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598878" }, "publicationId": "PMID:16116425" }, "phenotypeStatement": "Abnormal renal tubule morphology", "dateAssigned": "2017-09-22T11:00:32.000-05:00", "objectId": "HGNC:9958" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200118", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062507" }, "publicationId": "PMID:22929189" }, "phenotypeStatement": "Malabsorption of Vitamin B12", "dateAssigned": "2016-06-15T10:27:11.000-05:00", "objectId": "HGNC:14604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200118", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062507" }, "publicationId": "PMID:22929189" }, "phenotypeStatement": "Malabsorption of Vitamin B12", "dateAssigned": "2016-06-15T10:32:18.000-05:00", "objectId": "HGNC:4268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886277" }, "publicationId": "PMID:27027531" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-03T19:05:56.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285389" }, "publicationId": "PMID:29093318" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2021-06-18T13:34:27.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285389" }, "publicationId": "PMID:29093318" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2021-06-18T13:34:34.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:407419865" }, "publicationId": "PMID:9622381" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-07-18T10:27:51.000-05:00", "objectId": "HGNC:1569" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580881" }, "publicationId": "PMID:11848437" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2017-09-14T13:35:07.000-05:00", "objectId": "HGNC:9051" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688381" }, "publicationId": "PMID:15961413" }, "phenotypeStatement": "Lewy bodies", "dateAssigned": "2017-12-01T17:03:45.000-06:00", "objectId": "HGNC:14348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025188", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365108" }, "publicationId": "PMID:9756436" }, "phenotypeStatement": "Retinal vasculitis", "dateAssigned": "2018-02-06T15:35:36.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001085", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547742" }, "publicationId": "PMID:16244763" }, "phenotypeStatement": "Papilledema", "dateAssigned": "2018-03-19T15:21:45.000-05:00", "objectId": "HGNC:8583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030604", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547742" }, "publicationId": "PMID:16244763" }, "phenotypeStatement": "Abnormal fundus fluorescein angiography", "dateAssigned": "2018-03-19T15:21:45.000-05:00", "objectId": "HGNC:8583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547742" }, "publicationId": "PMID:16244763" }, "phenotypeStatement": "Retinal hemorrhage", "dateAssigned": "2018-03-19T15:21:45.000-05:00", "objectId": "HGNC:8583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007994", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547963" }, "publicationId": "PMID:20309401" }, "phenotypeStatement": "Peripheral visual field loss", "dateAssigned": "2018-03-19T17:47:13.000-05:00", "objectId": "HGNC:12601" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547963" }, "publicationId": "PMID:20309401" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2018-03-19T17:47:13.000-05:00", "objectId": "HGNC:12601" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547963" }, "publicationId": "PMID:20309401" }, "phenotypeStatement": "Abnormal fundus morphology", "dateAssigned": "2018-03-19T17:47:13.000-05:00", "objectId": "HGNC:12601" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000700", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560491" }, "publicationId": "PMID:25928877" }, "phenotypeStatement": "Periapical bone loss", "dateAssigned": "2016-11-08T16:11:08.000-06:00", "objectId": "HGNC:22140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000340", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13450905" }, "publicationId": "PMID:17764569" }, "phenotypeStatement": "Sloping forehead", "dateAssigned": "2017-11-08T10:08:41.000-06:00", "objectId": "HGNC:18672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13450905" }, "publicationId": "PMID:17764569" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2017-11-08T10:08:41.000-06:00", "objectId": "HGNC:18672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001317", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6480871" }, "publicationId": "PMID:20082166" }, "phenotypeStatement": "Abnormal cerebellum morphology", "dateAssigned": "2017-12-01T17:38:24.000-06:00", "objectId": "HGNC:6180" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13463104" }, "publicationId": "PMID:24940672" }, "phenotypeStatement": "Increased phosphoribosylpyrophosphate synthetase level", "dateAssigned": "2017-12-12T10:36:34.000-06:00", "objectId": "HGNC:5157" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800680" }, "publicationId": "PMID:20664688" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-13T16:51:51.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000485", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800680" }, "publicationId": "PMID:20664688" }, "phenotypeStatement": "Megalocornea", "dateAssigned": "2018-03-13T16:51:51.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800680" }, "publicationId": "PMID:20664688" }, "phenotypeStatement": "Epiphora", "dateAssigned": "2018-03-13T16:51:51.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000613", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800680" }, "publicationId": "PMID:20664688" }, "phenotypeStatement": "Photophobia", "dateAssigned": "2018-03-13T16:51:51.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000479", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657385" }, "publicationId": "PMID:11812423" }, "phenotypeStatement": "Abnormal retinal morphology", "dateAssigned": "2018-04-18T12:31:19.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553861" }, "publicationId": "PMID:18985159" }, "phenotypeStatement": "Short stature", "dateAssigned": "2016-10-14T16:11:02.000-05:00", "objectId": "HGNC:20859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893516" }, "publicationId": "PMID:20146887" }, "phenotypeStatement": "Abnormal bladder morphology", "dateAssigned": "2017-12-12T13:15:50.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657353" }, "publicationId": "PMID:21204228" }, "phenotypeStatement": "Short stature", "dateAssigned": "2018-04-18T11:32:04.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210507" }, "publicationId": "PMID:17679637" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2017-09-01T15:00:46.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210507" }, "publicationId": "PMID:17679637" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2017-09-01T15:00:46.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000752", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210507" }, "publicationId": "PMID:17679637" }, "phenotypeStatement": "Hyperactivity", "dateAssigned": "2017-09-01T15:00:46.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010865", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210507" }, "publicationId": "PMID:17679637" }, "phenotypeStatement": "Oppositional defiant disorder", "dateAssigned": "2017-09-01T15:00:46.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002160", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893515" }, "publicationId": "PMID:20433440" }, "phenotypeStatement": "Hyperhomocystinemia", "dateAssigned": "2017-12-12T12:38:54.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012131", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041631" }, "publicationId": "PMID:11929803" }, "phenotypeStatement": "Abnormal number of erythroid precursors", "dateAssigned": "2017-12-12T14:54:21.000-06:00", "objectId": "HGNC:3416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031823", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13463104" }, "publicationId": "PMID:24940672" }, "phenotypeStatement": "Reduced hypoxanthine-guanine phosphoribosyltransferase level", "dateAssigned": "2017-12-12T10:33:56.000-06:00", "objectId": "HGNC:5157" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893476" }, "publicationId": "PMID:21186995" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2017-12-12T11:48:40.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012760", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062717" }, "publicationId": "PMID:15211631" }, "phenotypeStatement": "Reduced social responsiveness", "dateAssigned": "2017-02-14T15:29:50.000-06:00", "objectId": "HGNC:6990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062717" }, "publicationId": "PMID:15211631" }, "phenotypeStatement": "Language impairment", "dateAssigned": "2017-02-14T15:29:50.000-06:00", "objectId": "HGNC:6990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008762", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062717" }, "publicationId": "PMID:15211631" }, "phenotypeStatement": "Repetitive compulsive behavior", "dateAssigned": "2017-02-14T15:29:50.000-06:00", "objectId": "HGNC:6990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902986" }, "publicationId": "PMID:25223483" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-06-01T10:02:32.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688393" }, "publicationId": "PMID:18401856" }, "phenotypeStatement": "Resting tremor", "dateAssigned": "2017-12-01T17:06:10.000-06:00", "objectId": "HGNC:14348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688393" }, "publicationId": "PMID:18401856" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2017-12-01T17:06:10.000-06:00", "objectId": "HGNC:14348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688393" }, "publicationId": "PMID:18401856" }, "phenotypeStatement": "Lewy bodies", "dateAssigned": "2017-12-01T17:06:10.000-06:00", "objectId": "HGNC:14348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688395" }, "publicationId": "PMID:21701785" }, "phenotypeStatement": "Resting tremor", "dateAssigned": "2017-12-01T17:09:29.000-06:00", "objectId": "HGNC:14348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688395" }, "publicationId": "PMID:21701785" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2017-12-01T17:09:29.000-06:00", "objectId": "HGNC:14348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688395" }, "publicationId": "PMID:21701785" }, "phenotypeStatement": "Lewy bodies", "dateAssigned": "2017-12-01T17:09:30.000-06:00", "objectId": "HGNC:14348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031472", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405866371" }, "publicationId": "PMID:30104163" }, "phenotypeStatement": "Risky behavior", "dateAssigned": "2024-06-28T12:56:51.000-05:00", "objectId": "HGNC:23700" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410171", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405866371" }, "publicationId": "PMID:30104163" }, "phenotypeStatement": "Increased cotinine level", "dateAssigned": "2024-06-28T12:56:52.000-05:00", "objectId": "HGNC:23700" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365112" }, "publicationId": "PMID:8096501" }, "phenotypeStatement": "Autoimmune antibody positivity", "dateAssigned": "2018-02-06T16:41:36.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482736" }, "publicationId": "PMID:19138334" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2018-12-04T17:35:41.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9835035" }, "publicationId": "PMID:19118815" }, "phenotypeStatement": "Abnormal thalamus morphology", "dateAssigned": "2019-04-09T15:22:44.000-05:00", "objectId": "HGNC:9848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007361", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9835035" }, "publicationId": "PMID:19118815" }, "phenotypeStatement": "Abnormal pons morphology", "dateAssigned": "2019-04-09T15:22:44.000-05:00", "objectId": "HGNC:9848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009879", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11057920" }, "publicationId": "PMID:23587236" }, "phenotypeStatement": "Simplified gyral pattern", "dateAssigned": "2017-11-08T09:53:52.000-06:00", "objectId": "HGNC:18672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001274", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11057920" }, "publicationId": "PMID:23587236" }, "phenotypeStatement": "Agenesis of corpus callosum", "dateAssigned": "2017-11-08T09:53:52.000-06:00", "objectId": "HGNC:18672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000479", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365106" }, "publicationId": "PMID:11564593" }, "phenotypeStatement": "Abnormal retinal morphology", "dateAssigned": "2018-02-06T15:24:43.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000836", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365112" }, "publicationId": "PMID:8096501" }, "phenotypeStatement": "Hyperthyroidism", "dateAssigned": "2018-02-06T16:41:36.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011389", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365120" }, "publicationId": "PMID:2909230" }, "phenotypeStatement": "Functional abnormality of the inner ear", "dateAssigned": "2018-02-06T17:17:59.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552672" }, "publicationId": "PMID:19714363" }, "phenotypeStatement": "Abnormal corneal thickness", "dateAssigned": "2014-04-24T11:43:14.000-05:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13432029" }, "publicationId": "PMID:27065588" }, "phenotypeStatement": "Hypercalcemia", "dateAssigned": "2017-09-13T09:24:27.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657389" }, "publicationId": "PMID:8317498" }, "phenotypeStatement": "Cataract", "dateAssigned": "2018-04-18T13:25:01.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000541", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657389" }, "publicationId": "PMID:8317498" }, "phenotypeStatement": "Retinal detachment", "dateAssigned": "2018-04-18T13:25:01.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000340", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11057920" }, "publicationId": "PMID:23587236" }, "phenotypeStatement": "Sloping forehead", "dateAssigned": "2017-11-08T09:53:52.000-06:00", "objectId": "HGNC:18672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002092", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5143999" }, "publicationId": "PMID:19165231" }, "phenotypeStatement": "Pulmonary arterial hypertension", "dateAssigned": "2019-04-09T14:44:47.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003237", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285393" }, "publicationId": "PMID:9506344" }, "phenotypeStatement": "Increased circulating IgG concentration", "dateAssigned": "2021-06-21T12:44:18.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000501", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910479" }, "publicationId": "PMID:22950452" }, "phenotypeStatement": "Glaucoma", "dateAssigned": "2017-06-15T11:50:24.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252176" }, "publicationId": "PMID:25881102" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-27T17:50:47.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535128" }, "publicationId": "PMID:25132370" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-09-21T12:00:09.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535128" }, "publicationId": "PMID:25132370" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-21T12:00:09.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535128" }, "publicationId": "PMID:25132370" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-21T12:00:09.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001929", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041774" }, "publicationId": "PMID:22633531" }, "phenotypeStatement": "Reduced factor XI activity", "dateAssigned": "2017-12-07T16:47:35.000-06:00", "objectId": "HGNC:3529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001928", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041774" }, "publicationId": "PMID:22633531" }, "phenotypeStatement": "Abnormality of coagulation", "dateAssigned": "2017-12-07T16:47:35.000-06:00", "objectId": "HGNC:3529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394695" }, "publicationId": "PMID:22618592" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-02-07T15:27:51.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002354", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13825442" }, "publicationId": "PMID:11843698" }, "phenotypeStatement": "Memory impairment", "dateAssigned": "2018-12-05T16:42:30.000-06:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031987", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13825442" }, "publicationId": "PMID:11843698" }, "phenotypeStatement": "Diminished ability to concentrate", "dateAssigned": "2018-12-05T16:42:30.000-06:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410241", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661699" }, "publicationId": "PMID:11831453" }, "phenotypeStatement": "Abnormal circulating IgE concentration", "dateAssigned": "2014-06-12T14:37:13.000-05:00", "objectId": "HGNC:3176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12832746" }, "publicationId": "PMID:9765621" }, "phenotypeStatement": "Abnormal endometrium morphology", "dateAssigned": "2017-04-12T16:36:41.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100710", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13451126" }, "publicationId": "PMID:23440431" }, "phenotypeStatement": "Impulsivity", "dateAssigned": "2017-11-15T11:30:00.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012090", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13462041" }, "publicationId": "PMID:25266736" }, "phenotypeStatement": "Abnormal pancreas morphology", "dateAssigned": "2017-12-07T15:07:18.000-06:00", "objectId": "HGNC:1097" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483853" }, "publicationId": "PMID:18349110" }, "phenotypeStatement": "Abnormality of superoxide metabolism", "dateAssigned": "2017-12-05T12:47:42.000-06:00", "objectId": "HGNC:7406" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7205447" }, "publicationId": "PMID:21183554" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2018-01-04T12:59:09.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038767" }, "publicationId": "PMID:20880116" }, "phenotypeStatement": "Increased total leukocyte count", "dateAssigned": "2018-01-04T13:41:32.000-06:00", "objectId": "HGNC:18318" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012311", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038767" }, "publicationId": "PMID:20880116" }, "phenotypeStatement": "Increased total monocyte count", "dateAssigned": "2018-01-04T13:41:32.000-06:00", "objectId": "HGNC:18318" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003077", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7247446" }, "publicationId": "PMID:21511817" }, "phenotypeStatement": "Hyperlipidemia", "dateAssigned": "2018-12-04T17:09:45.000-06:00", "objectId": "HGNC:12338" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031185", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696736" }, "publicationId": "PMID:21273288" }, "phenotypeStatement": "Elevated circulating NT-proBNP concentration", "dateAssigned": "2019-07-23T10:16:06.000-05:00", "objectId": "HGNC:2024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7247446" }, "publicationId": "PMID:21511817" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2018-12-04T17:09:45.000-06:00", "objectId": "HGNC:12338" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000969", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7247446" }, "publicationId": "PMID:21511817" }, "phenotypeStatement": "Edema", "dateAssigned": "2018-12-04T17:09:45.000-06:00", "objectId": "HGNC:12338" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003073", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7247446" }, "publicationId": "PMID:21511817" }, "phenotypeStatement": "Hypoalbuminemia", "dateAssigned": "2018-12-04T17:09:45.000-06:00", "objectId": "HGNC:12338" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484587" }, "publicationId": "PMID:16123355" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2017-12-05T12:54:06.000-06:00", "objectId": "HGNC:6931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025521", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484587" }, "publicationId": "PMID:16123355" }, "phenotypeStatement": "Increased body fat percentage", "dateAssigned": "2017-12-05T12:54:06.000-06:00", "objectId": "HGNC:6931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482740" }, "publicationId": "PMID:17033970" }, "phenotypeStatement": "Axial hypotonia", "dateAssigned": "2018-12-04T18:05:43.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002478", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482740" }, "publicationId": "PMID:17033970" }, "phenotypeStatement": "Progressive spastic quadriplegia", "dateAssigned": "2018-12-04T18:05:43.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482740" }, "publicationId": "PMID:17033970" }, "phenotypeStatement": "Vegetative state", "dateAssigned": "2018-12-04T18:05:43.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482740" }, "publicationId": "PMID:17033970" }, "phenotypeStatement": "Abnormal pyramidal sign", "dateAssigned": "2018-12-04T18:05:43.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482740" }, "publicationId": "PMID:17033970" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2018-12-04T18:05:43.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007103", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482740" }, "publicationId": "PMID:17033970" }, "phenotypeStatement": "Hypointensity of cerebral white matter on MRI", "dateAssigned": "2018-12-04T18:05:43.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598382" }, "publicationId": "PMID:10571959" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2017-09-19T17:54:57.000-05:00", "objectId": "HGNC:8823" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100651", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147565" }, "publicationId": "PMID:21388354" }, "phenotypeStatement": "Type I diabetes mellitus", "dateAssigned": "2019-02-20T15:15:56.000-06:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030878", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11059537" }, "publicationId": "PMID:15898979" }, "phenotypeStatement": "Abnormality on pulmonary function testing", "dateAssigned": "2017-11-16T12:43:48.000-06:00", "objectId": "HGNC:11608" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552694" }, "publicationId": "PMID:15623792" }, "phenotypeStatement": "Paravenous chorioretinal atrophy", "dateAssigned": "2019-02-19T12:45:15.000-06:00", "objectId": "HGNC:2343" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000147", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7257710" }, "publicationId": "PMID:21282199" }, "phenotypeStatement": "Polycystic ovaries", "dateAssigned": "2019-02-20T14:36:02.000-06:00", "objectId": "HGNC:2594" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030348", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7257710" }, "publicationId": "PMID:21282199" }, "phenotypeStatement": "Increased circulating androgen concentration", "dateAssigned": "2019-02-20T14:36:02.000-06:00", "objectId": "HGNC:2594" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7257710" }, "publicationId": "PMID:21282199" }, "phenotypeStatement": "Abnormality of the menstrual cycle", "dateAssigned": "2019-02-20T14:36:02.000-06:00", "objectId": "HGNC:2594" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003808", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484669" }, "publicationId": "PMID:12616398" }, "phenotypeStatement": "Abnormal muscle tone", "dateAssigned": "2017-12-05T14:55:10.000-06:00", "objectId": "HGNC:7711" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002329", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484669" }, "publicationId": "PMID:12616398" }, "phenotypeStatement": "Drowsiness", "dateAssigned": "2017-12-05T14:55:10.000-06:00", "objectId": "HGNC:7711" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002151", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484669" }, "publicationId": "PMID:12616398" }, "phenotypeStatement": "Increased circulating lactate concentration", "dateAssigned": "2017-12-05T14:55:10.000-06:00", "objectId": "HGNC:7711" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012443", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484669" }, "publicationId": "PMID:12616398" }, "phenotypeStatement": "Abnormal brain morphology", "dateAssigned": "2017-12-05T14:55:10.000-06:00", "objectId": "HGNC:7711" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012090", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13462050" }, "publicationId": "PMID:25470788" }, "phenotypeStatement": "Abnormal pancreas morphology", "dateAssigned": "2017-12-07T14:30:08.000-06:00", "objectId": "HGNC:1582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200118", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062507" }, "publicationId": "PMID:22929189" }, "phenotypeStatement": "Malabsorption of Vitamin B12", "dateAssigned": "2016-06-15T10:35:36.000-05:00", "objectId": "HGNC:2548" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925160" }, "publicationId": "PMID:23292505" }, "phenotypeStatement": "Hyperbilirubinemia", "dateAssigned": "2021-05-13T15:16:30.000-05:00", "objectId": "HGNC:31533" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6906881" }, "publicationId": "PMID:22795294" }, "phenotypeStatement": "Periodontitis", "dateAssigned": "2019-02-19T11:59:43.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031700", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449113" }, "publicationId": "PMID:24943486" }, "phenotypeStatement": "Invasive parasitic infection", "dateAssigned": "2019-02-19T14:09:40.000-06:00", "objectId": "HGNC:4057" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150537038" }, "publicationId": "PMID:27221877" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2021-12-21T13:41:56.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012122", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7421584" }, "publicationId": "PMID:1625093" }, "phenotypeStatement": "Anterior uveitis", "dateAssigned": "2018-02-20T12:01:12.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13432073" }, "publicationId": "PMID:21823528" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2017-09-18T14:59:36.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006930", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13451122" }, "publicationId": "PMID:17493297" }, "phenotypeStatement": "Frontoparietal cortical dysplasia", "dateAssigned": "2017-11-15T10:45:02.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001933", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041811" }, "publicationId": "PMID:8025280" }, "phenotypeStatement": "Subcutaneous hemorrhage", "dateAssigned": "2017-12-07T15:32:27.000-06:00", "objectId": "HGNC:3531" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000718", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13451121" }, "publicationId": "PMID:22972758" }, "phenotypeStatement": "Aggressive behavior", "dateAssigned": "2017-11-15T10:16:56.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002034", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893664" }, "publicationId": "PMID:21865946" }, "phenotypeStatement": "Abnormal rectum morphology", "dateAssigned": "2017-12-19T17:44:40.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045665" }, "publicationId": "PMID:23137636" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-22T12:18:29.000-06:00", "objectId": "HGNC:1440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045665" }, "publicationId": "PMID:23137636" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-22T12:24:09.000-06:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045848" }, "publicationId": "PMID:16939403" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2019-02-04T15:28:22.000-06:00", "objectId": "HGNC:5464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002659", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045848" }, "publicationId": "PMID:16939403" }, "phenotypeStatement": "Increased susceptibility to fractures", "dateAssigned": "2019-02-04T15:28:22.000-06:00", "objectId": "HGNC:5464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002823", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045848" }, "publicationId": "PMID:16939403" }, "phenotypeStatement": "Abnormal femur morphology", "dateAssigned": "2019-02-04T15:28:22.000-06:00", "objectId": "HGNC:5464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11342310" }, "publicationId": "PMID:25792174" }, "phenotypeStatement": "Viremia", "dateAssigned": "2020-12-12T22:23:38.000-06:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39939049" }, "publicationId": "PMID:25751776" }, "phenotypeStatement": "Fever", "dateAssigned": "2020-12-13T22:08:42.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009830", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5686916" }, "publicationId": "PMID:21228734" }, "phenotypeStatement": "Peripheral neuropathy", "dateAssigned": "2019-02-19T12:21:34.000-06:00", "objectId": "HGNC:2545" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011227", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041803" }, "publicationId": "PMID:16411408" }, "phenotypeStatement": "Elevated circulating C-reactive protein concentration", "dateAssigned": "2017-12-07T16:22:23.000-06:00", "objectId": "HGNC:3530" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450479" }, "publicationId": "PMID:1722314" }, "phenotypeStatement": "Abnormal erythrocyte morphology", "dateAssigned": "2018-08-01T11:40:15.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5144221" }, "publicationId": "PMID:11875049" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2019-05-01T15:58:52.000-05:00", "objectId": "HGNC:6052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020114", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38501051" }, "publicationId": "PMID:27771518" }, "phenotypeStatement": "Persistent human papillomavirus infection", "dateAssigned": "2020-08-13T13:47:03.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10003156" }, "publicationId": "PMID:15286156" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2019-03-14T15:02:31.000-05:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10003156" }, "publicationId": "PMID:15286156" }, "phenotypeStatement": "Failure to thrive", "dateAssigned": "2019-03-14T15:02:31.000-05:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10003156" }, "publicationId": "PMID:15286156" }, "phenotypeStatement": "Scleroderma", "dateAssigned": "2019-03-14T15:02:31.000-05:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10003156" }, "publicationId": "PMID:15286156" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2019-03-14T15:02:31.000-05:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039298" }, "publicationId": "PMID:20142534" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2019-11-27T13:17:25.000-06:00", "objectId": "HGNC:9179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158095" }, "publicationId": "PMID:19879020" }, "phenotypeStatement": "Progressive ophthalmoplegia", "dateAssigned": "2019-12-18T10:54:48.000-06:00", "objectId": "HGNC:6893" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13432029" }, "publicationId": "PMID:27065588" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2017-09-13T09:23:56.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694354" }, "publicationId": "PMID:15834437" }, "phenotypeStatement": "Hyperbilirubinemia", "dateAssigned": "2018-05-01T14:58:07.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038767" }, "publicationId": "PMID:20880116" }, "phenotypeStatement": "Anemia", "dateAssigned": "2018-01-04T13:41:32.000-06:00", "objectId": "HGNC:18318" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004950", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893659" }, "publicationId": "PMID:16274479" }, "phenotypeStatement": "Peripheral arterial stenosis", "dateAssigned": "2017-12-19T17:24:57.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:737707" }, "publicationId": "PMID:11826024" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2019-03-13T12:52:50.000-05:00", "objectId": "HGNC:4638" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:737707" }, "publicationId": "PMID:11826024" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2019-03-13T12:52:50.000-05:00", "objectId": "HGNC:4638" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800658" }, "publicationId": "PMID:18483560" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-13T16:09:41.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800658" }, "publicationId": "PMID:18483560" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-13T16:09:41.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800658" }, "publicationId": "PMID:18483560" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-03-13T16:09:41.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11574149" }, "publicationId": "PMID:26275438" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2017-09-13T10:23:20.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11039540" }, "publicationId": "PMID:21310277" }, "phenotypeStatement": "Increased mean corpuscular volume", "dateAssigned": "2018-01-04T12:36:50.000-06:00", "objectId": "HGNC:2861" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002353", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11039540" }, "publicationId": "PMID:21310277" }, "phenotypeStatement": "EEG abnormality", "dateAssigned": "2018-01-04T12:36:50.000-06:00", "objectId": "HGNC:2861" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893579" }, "publicationId": "PMID:17899317" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2017-12-15T13:02:11.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002483", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5686382" }, "publicationId": "PMID:20385924" }, "phenotypeStatement": "Bulbar signs", "dateAssigned": "2016-09-16T09:30:13.000-05:00", "objectId": "HGNC:23150" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000790", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147561" }, "publicationId": "PMID:21569485" }, "phenotypeStatement": "Hematuria", "dateAssigned": "2016-09-16T11:27:28.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147561" }, "publicationId": "PMID:21569485" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2016-09-16T11:27:28.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500020", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893548" }, "publicationId": "PMID:19272686" }, "phenotypeStatement": "Abnormal cardiac biomarker test", "dateAssigned": "2017-12-15T11:58:29.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893548" }, "publicationId": "PMID:19272686" }, "phenotypeStatement": "Abnormal EKG", "dateAssigned": "2017-12-15T11:58:29.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100749", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893548" }, "publicationId": "PMID:19272686" }, "phenotypeStatement": "Chest pain", "dateAssigned": "2017-12-15T11:58:29.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893548" }, "publicationId": "PMID:19272686" }, "phenotypeStatement": "Respiratory distress", "dateAssigned": "2017-12-15T11:58:29.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100614", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147629" }, "publicationId": "PMID:17586554" }, "phenotypeStatement": "Myositis", "dateAssigned": "2019-08-12T15:14:08.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005344", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483844" }, "publicationId": "PMID:17622311" }, "phenotypeStatement": "Abnormal carotid artery morphology", "dateAssigned": "2017-12-04T18:19:01.000-06:00", "objectId": "HGNC:7406" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012636", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394767" }, "publicationId": "PMID:10511031" }, "phenotypeStatement": "Retinal venous occlusion", "dateAssigned": "2019-07-31T15:13:32.000-05:00", "objectId": "HGNC:3542" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011121", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893580" }, "publicationId": "PMID:17627246" }, "phenotypeStatement": "Abnormal skin morphology", "dateAssigned": "2017-12-15T13:33:07.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001744", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508739" }, "publicationId": "PMID:20646002" }, "phenotypeStatement": "Splenomegaly", "dateAssigned": "2019-09-26T15:21:07.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13209001" }, "publicationId": "PMID:27086870" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2017-08-28T14:34:03.000-05:00", "objectId": "HGNC:17089" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002066", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13209001" }, "publicationId": "PMID:27086870" }, "phenotypeStatement": "Gait ataxia", "dateAssigned": "2017-08-28T14:34:03.000-05:00", "objectId": "HGNC:17089" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12792215" }, "publicationId": "PMID:24120392" }, "phenotypeStatement": "Respiratory insufficiency", "dateAssigned": "2017-03-23T12:57:24.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490539" }, "publicationId": "PMID:21176116" }, "phenotypeStatement": "Inflammatory abnormality of the skin", "dateAssigned": "2017-03-23T13:19:27.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001260", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13209009" }, "publicationId": "PMID:17503513" }, "phenotypeStatement": "Dysarthria", "dateAssigned": "2017-08-28T16:00:57.000-05:00", "objectId": "HGNC:17089" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001310", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13209009" }, "publicationId": "PMID:17503513" }, "phenotypeStatement": "Dysmetria", "dateAssigned": "2017-08-28T16:00:57.000-05:00", "objectId": "HGNC:17089" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001641", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581133" }, "publicationId": "PMID:11714651" }, "phenotypeStatement": "Abnormal pulmonary valve morphology", "dateAssigned": "2017-09-19T17:27:07.000-05:00", "objectId": "HGNC:2488" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012020", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581133" }, "publicationId": "PMID:11714651" }, "phenotypeStatement": "Right aortic arch", "dateAssigned": "2017-09-19T17:27:07.000-05:00", "objectId": "HGNC:2488" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001667", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581133" }, "publicationId": "PMID:11714651" }, "phenotypeStatement": "Right ventricular hypertrophy", "dateAssigned": "2017-09-19T17:27:07.000-05:00", "objectId": "HGNC:2488" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001629", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581133" }, "publicationId": "PMID:11714651" }, "phenotypeStatement": "Ventricular septal defect", "dateAssigned": "2017-09-19T17:27:07.000-05:00", "objectId": "HGNC:2488" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011784", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365094" }, "publicationId": "PMID:23329888" }, "phenotypeStatement": "Thyrotoxicosis with diffuse goiter", "dateAssigned": "2018-02-06T12:22:00.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000556", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8696016" }, "publicationId": "PMID:22876109" }, "phenotypeStatement": "Retinal dystrophy", "dateAssigned": "2016-08-29T15:42:37.000-05:00", "objectId": "HGNC:428" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000556", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8696018" }, "publicationId": "PMID:16720663" }, "phenotypeStatement": "Retinal dystrophy", "dateAssigned": "2016-08-29T15:56:56.000-05:00", "objectId": "HGNC:428" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001878", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893633" }, "publicationId": "PMID:19448163" }, "phenotypeStatement": "Hemolytic anemia", "dateAssigned": "2017-12-18T12:35:43.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893633" }, "publicationId": "PMID:19448163" }, "phenotypeStatement": "Thrombocytopenia", "dateAssigned": "2017-12-18T12:35:43.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8696018" }, "publicationId": "PMID:16720663" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2016-08-29T15:56:56.000-05:00", "objectId": "HGNC:428" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003203", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040566" }, "publicationId": "PMID:11122248" }, "phenotypeStatement": "Decreased neutrophil oxidative burst", "dateAssigned": "2017-12-15T11:25:06.000-06:00", "objectId": "HGNC:2578" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893631" }, "publicationId": "PMID:22554825" }, "phenotypeStatement": "Abnormality of urine homeostasis", "dateAssigned": "2017-12-15T17:37:22.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038705" }, "publicationId": "PMID:21712540" }, "phenotypeStatement": "Anemia", "dateAssigned": "2018-01-05T10:20:31.000-06:00", "objectId": "HGNC:18318" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207048" }, "publicationId": "PMID:20616161" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2018-01-05T16:17:41.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7205499" }, "publicationId": "PMID:21034470" }, "phenotypeStatement": "Hypercalcemia", "dateAssigned": "2018-01-04T13:42:58.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7205499" }, "publicationId": "PMID:21034470" }, "phenotypeStatement": "Abnormality of urine calcium concentration", "dateAssigned": "2018-01-04T13:42:58.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7205505" }, "publicationId": "PMID:19640368" }, "phenotypeStatement": "Abnormality of the parathyroid physiology", "dateAssigned": "2018-01-04T16:35:30.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10769341" }, "publicationId": "PMID:17593033" }, "phenotypeStatement": "Hyperbilirubinemia", "dateAssigned": "2018-01-05T14:44:17.000-06:00", "objectId": "HGNC:12530" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175255" }, "publicationId": "PMID:21205020" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-01-02T14:28:41.000-06:00", "objectId": "HGNC:5992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001385", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13208930" }, "publicationId": "PMID:12966518" }, "phenotypeStatement": "Hip dysplasia", "dateAssigned": "2017-08-23T10:04:36.000-05:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031174", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13208930" }, "publicationId": "PMID:12966518" }, "phenotypeStatement": "Double-layered patella", "dateAssigned": "2017-08-23T10:04:36.000-05:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207022" }, "publicationId": "PMID:11489811" }, "phenotypeStatement": "Abnormal large intestine morphology", "dateAssigned": "2018-01-05T12:54:58.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7183084" }, "publicationId": "PMID:19896109" }, "phenotypeStatement": "Abnormal electroretinogram", "dateAssigned": "2018-01-03T16:19:36.000-06:00", "objectId": "HGNC:7146" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7183084" }, "publicationId": "PMID:19896109" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2018-01-03T16:19:36.000-06:00", "objectId": "HGNC:7146" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7205440" }, "publicationId": "PMID:7726161" }, "phenotypeStatement": "Hypercalcemia", "dateAssigned": "2018-01-03T16:43:23.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7205440" }, "publicationId": "PMID:7726161" }, "phenotypeStatement": "Abnormality of urine calcium concentration", "dateAssigned": "2018-01-03T16:43:23.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13464331" }, "publicationId": "PMID:17018660" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2018-01-03T16:56:36.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10768868" }, "publicationId": "PMID:18392554" }, "phenotypeStatement": "Increased total bilirubin", "dateAssigned": "2018-01-19T14:30:48.000-06:00", "objectId": "HGNC:12530" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7183085" }, "publicationId": "PMID:19896113" }, "phenotypeStatement": "Abnormal electroretinogram", "dateAssigned": "2018-01-03T16:28:20.000-06:00", "objectId": "HGNC:7146" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7183085" }, "publicationId": "PMID:19896113" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2018-01-03T16:28:20.000-06:00", "objectId": "HGNC:7146" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11035218" }, "publicationId": "PMID:16613914" }, "phenotypeStatement": "Arteriovenous malformation", "dateAssigned": "2018-01-05T12:13:36.000-06:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11035218" }, "publicationId": "PMID:16613914" }, "phenotypeStatement": "Epistaxis", "dateAssigned": "2018-01-05T12:13:36.000-06:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207020" }, "publicationId": "PMID:10485461" }, "phenotypeStatement": "Abnormal ovarian morphology", "dateAssigned": "2018-01-05T12:43:09.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012528", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040508" }, "publicationId": "PMID:24325358" }, "phenotypeStatement": "Abnormal number of alpha granules", "dateAssigned": "2018-01-02T13:41:26.000-06:00", "objectId": "HGNC:4238" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040185", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040508" }, "publicationId": "PMID:24325358" }, "phenotypeStatement": "Macrothrombocytopenia", "dateAssigned": "2018-01-02T13:41:26.000-06:00", "objectId": "HGNC:4238" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003010", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040508" }, "publicationId": "PMID:24325358" }, "phenotypeStatement": "Prolonged bleeding time", "dateAssigned": "2018-01-02T13:41:26.000-06:00", "objectId": "HGNC:4238" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031156", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040508" }, "publicationId": "PMID:24325358" }, "phenotypeStatement": "Decreased platelet glycoprotein Ib", "dateAssigned": "2018-01-02T13:41:26.000-06:00", "objectId": "HGNC:4238" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490232" }, "publicationId": "PMID:19589204" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2019-10-02T14:36:42.000-05:00", "objectId": "HGNC:6547" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001030", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442504" }, "publicationId": "PMID:28639748" }, "phenotypeStatement": "Fragile skin", "dateAssigned": "2017-11-06T16:23:24.000-06:00", "objectId": "HGNC:8804" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442504" }, "publicationId": "PMID:28639748" }, "phenotypeStatement": "Abnormally lax or hyperextensible skin", "dateAssigned": "2017-11-06T16:23:24.000-06:00", "objectId": "HGNC:8804" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7205448" }, "publicationId": "PMID:20067903" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2018-01-04T13:03:11.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011355", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771576" }, "publicationId": "PMID:11908569" }, "phenotypeStatement": "Localized skin lesion", "dateAssigned": "2018-03-07T15:06:09.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001302", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11067701" }, "publicationId": "PMID:18954413" }, "phenotypeStatement": "Pachygyria", "dateAssigned": "2017-04-12T10:33:03.000-05:00", "objectId": "HGNC:20766" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207023" }, "publicationId": "PMID:12845675" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2018-01-05T13:49:43.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893579" }, "publicationId": "PMID:17899317" }, "phenotypeStatement": "Increased carotid artery intimal medial thickness", "dateAssigned": "2017-12-15T12:23:37.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252192" }, "publicationId": "PMID:19101034" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-28T14:16:33.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11075607" }, "publicationId": "PMID:26482462" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-28T15:05:55.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175337" }, "publicationId": "PMID:14760799" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2018-01-02T15:00:20.000-06:00", "objectId": "HGNC:5992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003073", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175337" }, "publicationId": "PMID:14760799" }, "phenotypeStatement": "Hypoalbuminemia", "dateAssigned": "2018-01-02T15:00:20.000-06:00", "objectId": "HGNC:5992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001438", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578461" }, "publicationId": "PMID:12872269" }, "phenotypeStatement": "Abnormal abdomen morphology", "dateAssigned": "2017-09-13T11:46:06.000-05:00", "objectId": "HGNC:3557" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578461" }, "publicationId": "PMID:12872269" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2017-09-13T11:46:06.000-05:00", "objectId": "HGNC:3557" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11572306" }, "publicationId": "PMID:26827631" }, "phenotypeStatement": "Viremia", "dateAssigned": "2020-12-20T23:12:34.000-06:00", "objectId": "HGNC:7794" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886300" }, "publicationId": "PMID:25658540" }, "phenotypeStatement": "Decreased CD4+ T cell proportion", "dateAssigned": "2020-12-06T22:49:38.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175555" }, "publicationId": "PMID:19878917" }, "phenotypeStatement": "Abnormal electroretinogram", "dateAssigned": "2018-01-02T15:26:57.000-06:00", "objectId": "HGNC:7146" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175555" }, "publicationId": "PMID:19878917" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2018-01-02T15:26:57.000-06:00", "objectId": "HGNC:7146" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012759", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7205468" }, "publicationId": "PMID:21667241" }, "phenotypeStatement": "Neurodevelopmental abnormality", "dateAssigned": "2018-01-04T13:20:47.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002718", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040560" }, "publicationId": "PMID:10068684" }, "phenotypeStatement": "Recurrent bacterial infections", "dateAssigned": "2017-12-15T12:01:31.000-06:00", "objectId": "HGNC:2578" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003206", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040560" }, "publicationId": "PMID:10068684" }, "phenotypeStatement": "Decreased activity of NADPH oxidase", "dateAssigned": "2017-12-15T12:01:31.000-06:00", "objectId": "HGNC:2578" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10046014" }, "publicationId": "PMID:12133586" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2016-08-18T16:30:41.000-05:00", "objectId": "HGNC:7" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045848" }, "publicationId": "PMID:16939403" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2019-02-04T15:02:02.000-06:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002659", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045848" }, "publicationId": "PMID:16939403" }, "phenotypeStatement": "Increased susceptibility to fractures", "dateAssigned": "2019-02-04T15:02:02.000-06:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002823", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045848" }, "publicationId": "PMID:16939403" }, "phenotypeStatement": "Abnormal femur morphology", "dateAssigned": "2019-02-04T15:02:02.000-06:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175098" }, "publicationId": "PMID:22663993" }, "phenotypeStatement": "Elevated circulating creatinine concentration", "dateAssigned": "2018-01-02T14:19:08.000-06:00", "objectId": "HGNC:5992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7205445" }, "publicationId": "PMID:20602573" }, "phenotypeStatement": "Hypercalcemia", "dateAssigned": "2018-01-03T17:05:24.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925187" }, "publicationId": "PMID:24615520" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-05-13T17:41:50.000-05:00", "objectId": "HGNC:31533" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11035216" }, "publicationId": "PMID:16752392" }, "phenotypeStatement": "Epistaxis", "dateAssigned": "2018-01-05T13:38:37.000-06:00", "objectId": "HGNC:3349" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006548", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11035216" }, "publicationId": "PMID:16752392" }, "phenotypeStatement": "Pulmonary arteriovenous malformation", "dateAssigned": "2018-01-05T13:38:37.000-06:00", "objectId": "HGNC:3349" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008609", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491764" }, "publicationId": "PMID:24718616" }, "phenotypeStatement": "Abnormal middle ear morphology", "dateAssigned": "2019-02-04T17:43:13.000-06:00", "objectId": "HGNC:2558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040090", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491764" }, "publicationId": "PMID:24718616" }, "phenotypeStatement": "Abnormal tympanic membrane morphology", "dateAssigned": "2019-02-04T17:43:13.000-06:00", "objectId": "HGNC:2558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001392", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039298" }, "publicationId": "PMID:20142534" }, "phenotypeStatement": "Abnormality of the liver", "dateAssigned": "2019-11-27T13:18:04.000-06:00", "objectId": "HGNC:9179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003128", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039298" }, "publicationId": "PMID:20142534" }, "phenotypeStatement": "Lactic acidosis", "dateAssigned": "2019-11-27T13:19:08.000-06:00", "objectId": "HGNC:9179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11035244" }, "publicationId": "PMID:21252495" }, "phenotypeStatement": "Anemia", "dateAssigned": "2018-01-05T11:28:15.000-06:00", "objectId": "HGNC:397" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025066", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11035244" }, "publicationId": "PMID:21252495" }, "phenotypeStatement": "Decreased mean corpuscular volume", "dateAssigned": "2018-01-05T11:28:15.000-06:00", "objectId": "HGNC:397" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003281", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11035244" }, "publicationId": "PMID:21252495" }, "phenotypeStatement": "Increased circulating ferritin concentration", "dateAssigned": "2018-01-05T11:28:15.000-06:00", "objectId": "HGNC:397" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012888", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207024" }, "publicationId": "PMID:14550952" }, "phenotypeStatement": "Abnormal uterine cervix morphology", "dateAssigned": "2018-01-05T14:55:23.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207045" }, "publicationId": "PMID:12622858" }, "phenotypeStatement": "Abnormal periodontium morphology", "dateAssigned": "2018-01-05T15:45:22.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002088", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207021" }, "publicationId": "PMID:11691799" }, "phenotypeStatement": "Abnormal lung morphology", "dateAssigned": "2018-01-05T12:49:02.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7205666" }, "publicationId": "PMID:12239240" }, "phenotypeStatement": "Abnormality of urine calcium concentration", "dateAssigned": "2018-01-04T16:03:47.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483843" }, "publicationId": "PMID:16518702" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2017-12-04T17:14:31.000-06:00", "objectId": "HGNC:7406" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040217", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483843" }, "publicationId": "PMID:16518702" }, "phenotypeStatement": "Elevated hemoglobin A1c", "dateAssigned": "2017-12-04T17:14:32.000-06:00", "objectId": "HGNC:7406" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008277", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483843" }, "publicationId": "PMID:16518702" }, "phenotypeStatement": "Abnormal blood zinc concentration", "dateAssigned": "2017-12-04T17:14:32.000-06:00", "objectId": "HGNC:7406" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011355", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038781" }, "publicationId": "PMID:17617515" }, "phenotypeStatement": "Localized skin lesion", "dateAssigned": "2019-03-19T14:28:49.000-05:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025082", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038781" }, "publicationId": "PMID:17617515" }, "phenotypeStatement": "Abnormal cutaneous elastic fiber morphology", "dateAssigned": "2019-03-19T14:28:49.000-05:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038781" }, "publicationId": "PMID:17617515" }, "phenotypeStatement": "Abnormal fundus morphology", "dateAssigned": "2019-03-19T14:28:49.000-05:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910937" }, "publicationId": "PMID:10625078" }, "phenotypeStatement": "Elevated intracellular cystine", "dateAssigned": "2017-06-28T10:57:01.000-05:00", "objectId": "HGNC:2518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10003154" }, "publicationId": "PMID:19875478" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2019-03-14T14:36:44.000-05:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011121", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10003154" }, "publicationId": "PMID:19875478" }, "phenotypeStatement": "Abnormal skin morphology", "dateAssigned": "2019-03-14T14:36:44.000-05:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009125", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10003156" }, "publicationId": "PMID:15286156" }, "phenotypeStatement": "Lipodystrophy", "dateAssigned": "2019-03-14T15:02:31.000-05:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002089", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11069733" }, "publicationId": "PMID:21211617" }, "phenotypeStatement": "Pulmonary hypoplasia", "dateAssigned": "2016-10-19T12:52:29.000-05:00", "objectId": "HGNC:7744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003498", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11069733" }, "publicationId": "PMID:21211617" }, "phenotypeStatement": "Disproportionate short stature", "dateAssigned": "2016-10-19T12:52:29.000-05:00", "objectId": "HGNC:7744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000202", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11069733" }, "publicationId": "PMID:21211617" }, "phenotypeStatement": "Orofacial cleft", "dateAssigned": "2016-10-19T12:52:29.000-05:00", "objectId": "HGNC:7744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001547", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11069733" }, "publicationId": "PMID:21211617" }, "phenotypeStatement": "Abnormal rib cage morphology", "dateAssigned": "2016-10-19T12:52:29.000-05:00", "objectId": "HGNC:7744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11035216" }, "publicationId": "PMID:16752392" }, "phenotypeStatement": "Epistaxis", "dateAssigned": "2018-01-05T13:40:04.000-06:00", "objectId": "HGNC:175" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032235", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147809" }, "publicationId": "PMID:11555411" }, "phenotypeStatement": "Anti-La/SS-B antibody positivity", "dateAssigned": "2019-09-17T14:43:59.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000541", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657352" }, "publicationId": "PMID:12204008" }, "phenotypeStatement": "Retinal detachment", "dateAssigned": "2018-04-18T11:15:30.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657352" }, "publicationId": "PMID:12204008" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2018-04-18T11:15:30.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100807", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657352" }, "publicationId": "PMID:12204008" }, "phenotypeStatement": "Long fingers", "dateAssigned": "2018-04-18T11:15:30.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002149", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13439747" }, "publicationId": "PMID:19506252" }, "phenotypeStatement": "Hyperuricemia", "dateAssigned": "2017-10-17T11:03:46.000-05:00", "objectId": "HGNC:74" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8693348" }, "publicationId": "PMID:17941906" }, "phenotypeStatement": "Decreased thyroid-stimulating hormone level", "dateAssigned": "2018-04-24T13:04:36.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031506", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8693348" }, "publicationId": "PMID:17941906" }, "phenotypeStatement": "Increased circulating T4 concentration", "dateAssigned": "2018-04-24T13:04:36.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8693348" }, "publicationId": "PMID:17941906" }, "phenotypeStatement": "Autoimmune antibody positivity", "dateAssigned": "2018-04-24T13:04:36.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025484", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8693348" }, "publicationId": "PMID:17941906" }, "phenotypeStatement": "Increased circulating thyroglobulin concentration", "dateAssigned": "2018-04-24T13:04:36.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358146" }, "publicationId": "PMID:15821736" }, "phenotypeStatement": "Decreased inflammatory response", "dateAssigned": "2017-08-25T15:51:48.000-05:00", "objectId": "HGNC:7067" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002652", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1302823" }, "publicationId": "PMID:10700184" }, "phenotypeStatement": "Skeletal dysplasia", "dateAssigned": "2017-08-25T16:14:32.000-05:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000239", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10003156" }, "publicationId": "PMID:15286156" }, "phenotypeStatement": "Large fontanelles", "dateAssigned": "2019-03-14T15:02:31.000-05:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005505", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10755559" }, "publicationId": "PMID:12624489" }, "phenotypeStatement": "Refractory anemia", "dateAssigned": "2018-10-15T13:54:44.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893632" }, "publicationId": "PMID:20039875" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2017-12-18T11:23:34.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002415", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578474" }, "publicationId": "PMID:16219735" }, "phenotypeStatement": "Leukodystrophy", "dateAssigned": "2017-09-14T12:11:48.000-05:00", "objectId": "HGNC:4274" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000271", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578474" }, "publicationId": "PMID:16219735" }, "phenotypeStatement": "Abnormality of the face", "dateAssigned": "2017-09-14T12:11:48.000-05:00", "objectId": "HGNC:4274" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002813", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578474" }, "publicationId": "PMID:16219735" }, "phenotypeStatement": "Abnormal limb bone morphology", "dateAssigned": "2017-09-14T12:11:48.000-05:00", "objectId": "HGNC:4274" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032242", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38501051" }, "publicationId": "PMID:27771518" }, "phenotypeStatement": "Cervical intraepithelial neoplasia", "dateAssigned": "2020-08-13T13:46:33.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14695027" }, "publicationId": "PMID:28643196" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-07-03T13:52:09.000-05:00", "objectId": "HGNC:1509" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14695013" }, "publicationId": "PMID:18167406" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-07-03T12:47:34.000-05:00", "objectId": "HGNC:3229" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893654" }, "publicationId": "PMID:18098291" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2017-12-18T16:19:07.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000836", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365110" }, "publicationId": "PMID:8894996" }, "phenotypeStatement": "Hyperthyroidism", "dateAssigned": "2018-02-06T15:48:25.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925148" }, "publicationId": "PMID:18711148" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-05-13T12:41:21.000-05:00", "objectId": "HGNC:31533" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11576313" }, "publicationId": "PMID:21300689" }, "phenotypeStatement": "Displacement of the urethral meatus", "dateAssigned": "2017-03-13T16:02:22.000-05:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11576313" }, "publicationId": "PMID:21300689" }, "phenotypeStatement": "Displacement of the urethral meatus", "dateAssigned": "2017-03-13T16:02:22.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007390", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1578480" }, "publicationId": "PMID:16297190" }, "phenotypeStatement": "Hyperkeratosis with erythema", "dateAssigned": "2017-09-14T13:11:34.000-05:00", "objectId": "HGNC:4285" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11527221" }, "publicationId": "PMID:3627182" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2019-07-03T14:04:30.000-05:00", "objectId": "HGNC:603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548869" }, "publicationId": "PMID:12832734" }, "phenotypeStatement": "Elevated circulating creatinine concentration", "dateAssigned": "2019-04-15T15:54:39.000-05:00", "objectId": "HGNC:336" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000951", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484659" }, "publicationId": "PMID:17434924" }, "phenotypeStatement": "Abnormality of the skin", "dateAssigned": "2017-12-05T13:32:46.000-06:00", "objectId": "HGNC:6929" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484698" }, "publicationId": "PMID:19107570" }, "phenotypeStatement": "Irritability", "dateAssigned": "2017-12-05T13:52:28.000-06:00", "objectId": "HGNC:7711" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484698" }, "publicationId": "PMID:19107570" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2017-12-05T13:52:28.000-06:00", "objectId": "HGNC:7711" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003808", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484698" }, "publicationId": "PMID:19107570" }, "phenotypeStatement": "Abnormal muscle tone", "dateAssigned": "2017-12-05T13:52:28.000-06:00", "objectId": "HGNC:7711" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007017", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8693346" }, "publicationId": "PMID:15944651" }, "phenotypeStatement": "Progressive forgetfulness", "dateAssigned": "2018-04-24T12:34:44.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8693346" }, "publicationId": "PMID:15944651" }, "phenotypeStatement": "Dementia", "dateAssigned": "2018-04-24T12:34:44.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040195", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045557" }, "publicationId": "PMID:22305528" }, "phenotypeStatement": "Decreased head circumference", "dateAssigned": "2018-07-24T17:55:42.000-05:00", "objectId": "HGNC:30858" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045557" }, "publicationId": "PMID:22305528" }, "phenotypeStatement": "Decreased body weight", "dateAssigned": "2018-07-24T17:55:42.000-05:00", "objectId": "HGNC:30858" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045557" }, "publicationId": "PMID:22305528" }, "phenotypeStatement": "Short stature", "dateAssigned": "2018-07-24T17:55:42.000-05:00", "objectId": "HGNC:30858" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893635" }, "publicationId": "PMID:19005482" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2017-12-18T14:32:14.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893652" }, "publicationId": "PMID:18774994" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2017-12-18T15:38:21.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020064", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11100048" }, "publicationId": "PMID:25407941" }, "phenotypeStatement": "Abnormal total eosinophil count", "dateAssigned": "2019-07-30T14:15:35.000-05:00", "objectId": "HGNC:25310" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147865" }, "publicationId": "PMID:10228112" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2019-03-19T12:16:58.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002521", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484693" }, "publicationId": "PMID:19024088" }, "phenotypeStatement": "Hypsarrhythmia", "dateAssigned": "2017-12-05T14:23:40.000-06:00", "objectId": "HGNC:6930" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484693" }, "publicationId": "PMID:19024088" }, "phenotypeStatement": "Seizure", "dateAssigned": "2017-12-05T14:23:40.000-06:00", "objectId": "HGNC:6930" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045557" }, "publicationId": "PMID:22305528" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2018-07-24T17:55:42.000-05:00", "objectId": "HGNC:30858" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045557" }, "publicationId": "PMID:22305528" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2018-07-24T17:55:42.000-05:00", "objectId": "HGNC:30858" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045557" }, "publicationId": "PMID:22305528" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2018-07-24T17:55:42.000-05:00", "objectId": "HGNC:30858" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008551", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045557" }, "publicationId": "PMID:22305528" }, "phenotypeStatement": "Microtia", "dateAssigned": "2018-07-24T17:55:42.000-05:00", "objectId": "HGNC:30858" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006162", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12793072" }, "publicationId": "PMID:23378462" }, "phenotypeStatement": "Soft tissue swelling of interphalangeal joints", "dateAssigned": "2017-03-21T11:35:06.000-05:00", "objectId": "HGNC:6323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006253", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12793072" }, "publicationId": "PMID:23378462" }, "phenotypeStatement": "Swelling of proximal interphalangeal joints", "dateAssigned": "2017-03-21T11:35:06.000-05:00", "objectId": "HGNC:6323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001387", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12793072" }, "publicationId": "PMID:23378462" }, "phenotypeStatement": "Joint stiffness", "dateAssigned": "2017-03-21T11:35:06.000-05:00", "objectId": "HGNC:6323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000225", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9685136" }, "publicationId": "PMID:15490304" }, "phenotypeStatement": "Gingival bleeding", "dateAssigned": "2018-07-16T12:05:25.000-05:00", "objectId": "HGNC:4419" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000700", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9685136" }, "publicationId": "PMID:15490304" }, "phenotypeStatement": "Periapical bone loss", "dateAssigned": "2018-07-16T12:05:26.000-05:00", "objectId": "HGNC:4419" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001882", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10766474" }, "publicationId": "PMID:22009189" }, "phenotypeStatement": "Decreased total leukocyte count", "dateAssigned": "2019-03-12T16:50:29.000-05:00", "objectId": "HGNC:12014" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21066346" }, "publicationId": "PMID:23625533" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2020-04-19T22:06:47.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21066346" }, "publicationId": "PMID:23625533" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2020-04-19T22:06:48.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21066346" }, "publicationId": "PMID:23625533" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2020-04-19T22:06:48.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002151", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21066346" }, "publicationId": "PMID:23625533" }, "phenotypeStatement": "Increased circulating lactate concentration", "dateAssigned": "2020-04-19T22:06:48.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551815" }, "publicationId": "PMID:15962231" }, "phenotypeStatement": "Fever", "dateAssigned": "2018-09-11T14:09:57.000-05:00", "objectId": "HGNC:1606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011842", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893634" }, "publicationId": "PMID:19159907" }, "phenotypeStatement": "Abnormal skeletal morphology", "dateAssigned": "2017-12-18T14:17:13.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030604", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7777103" }, "publicationId": "PMID:23776381" }, "phenotypeStatement": "Abnormal fundus fluorescein angiography", "dateAssigned": "2018-03-08T15:41:00.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800719" }, "publicationId": "PMID:16490498" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-14T11:43:59.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003593", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800719" }, "publicationId": "PMID:16490498" }, "phenotypeStatement": "Infantile onset", "dateAssigned": "2018-03-14T11:43:59.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000485", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800719" }, "publicationId": "PMID:16490498" }, "phenotypeStatement": "Megalocornea", "dateAssigned": "2018-03-14T11:43:59.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8142350" }, "publicationId": "PMID:17625392" }, "phenotypeStatement": "Abnormal cardiac test", "dateAssigned": "2018-03-15T16:51:40.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031020", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10755491" }, "publicationId": "PMID:19258483" }, "phenotypeStatement": "Bone marrow hypercellularity", "dateAssigned": "2019-03-13T14:14:56.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547776" }, "publicationId": "PMID:22645426" }, "phenotypeStatement": "Fever", "dateAssigned": "2018-09-11T15:00:00.000-05:00", "objectId": "HGNC:11919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490156" }, "publicationId": "PMID:21791235" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2019-02-13T13:41:09.000-06:00", "objectId": "HGNC:4947" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490156" }, "publicationId": "PMID:21791235" }, "phenotypeStatement": "Tremor", "dateAssigned": "2019-02-13T13:41:09.000-06:00", "objectId": "HGNC:4947" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535969" }, "publicationId": "PMID:25946618" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-09-26T14:47:19.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535969" }, "publicationId": "PMID:25946618" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-26T14:47:19.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001245", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535122" }, "publicationId": "PMID:19191325" }, "phenotypeStatement": "Small thenar eminence", "dateAssigned": "2016-09-26T12:54:19.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535969" }, "publicationId": "PMID:25946618" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-26T14:47:19.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002672", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7495820" }, "publicationId": "PMID:20375710" }, "phenotypeStatement": "Gastrointestinal carcinoma", "dateAssigned": "2016-06-13T17:16:28.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535966" }, "publicationId": "PMID:16397067" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2016-09-26T13:00:42.000-05:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000164", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535966" }, "publicationId": "PMID:16397067" }, "phenotypeStatement": "Abnormality of the dentition", "dateAssigned": "2016-09-26T13:00:42.000-05:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535132" }, "publicationId": "PMID:19773262" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-26T13:21:48.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535132" }, "publicationId": "PMID:19773262" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-09-26T13:21:48.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535132" }, "publicationId": "PMID:19773262" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-26T13:21:48.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007994", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775046" }, "publicationId": "PMID:23422825" }, "phenotypeStatement": "Peripheral visual field loss", "dateAssigned": "2018-03-07T17:23:49.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775046" }, "publicationId": "PMID:23422825" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-07T17:23:49.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775046" }, "publicationId": "PMID:23422825" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-03-07T17:23:49.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001138", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775046" }, "publicationId": "PMID:23422825" }, "phenotypeStatement": "Optic neuropathy", "dateAssigned": "2018-03-07T17:23:49.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000238", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11667969" }, "publicationId": "PMID:20236121" }, "phenotypeStatement": "Hydrocephalus", "dateAssigned": "2017-01-19T18:15:35.000-06:00", "objectId": "HGNC:17997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006979", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1300232" }, "publicationId": "PMID:12736803" }, "phenotypeStatement": "Sleep-wake cycle disturbance", "dateAssigned": "2017-11-17T18:05:27.000-06:00", "objectId": "HGNC:19" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506818" }, "publicationId": "PMID:24894778" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2018-02-20T12:07:24.000-06:00", "objectId": "HGNC:20499" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506818" }, "publicationId": "PMID:24894778" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2018-02-20T12:07:24.000-06:00", "objectId": "HGNC:20499" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001288", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506818" }, "publicationId": "PMID:24894778" }, "phenotypeStatement": "Gait disturbance", "dateAssigned": "2018-02-20T12:07:24.000-06:00", "objectId": "HGNC:20499" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13209009" }, "publicationId": "PMID:17503513" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2017-08-28T16:00:57.000-05:00", "objectId": "HGNC:17089" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10046016" }, "publicationId": "PMID:12966032" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2016-08-18T16:45:38.000-05:00", "objectId": "HGNC:7" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150537038" }, "publicationId": "PMID:27221877" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2021-12-21T13:49:23.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097322" }, "publicationId": "PMID:19210659" }, "phenotypeStatement": "Abnormal respiratory system physiology", "dateAssigned": "2019-04-03T14:47:33.000-05:00", "objectId": "HGNC:2357" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006934", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560489" }, "publicationId": "PMID:23308101" }, "phenotypeStatement": "Congenital nystagmus", "dateAssigned": "2016-11-08T11:14:30.000-06:00", "objectId": "HGNC:19689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000540", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560489" }, "publicationId": "PMID:23308101" }, "phenotypeStatement": "Hypermetropia", "dateAssigned": "2016-11-08T11:14:30.000-06:00", "objectId": "HGNC:19689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000496", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560489" }, "publicationId": "PMID:23308101" }, "phenotypeStatement": "Abnormality of eye movement", "dateAssigned": "2016-11-08T11:14:30.000-06:00", "objectId": "HGNC:19689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004408", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508399" }, "publicationId": "PMID:21989859" }, "phenotypeStatement": "Abnormality of the sense of smell", "dateAssigned": "2019-02-13T17:11:37.000-06:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508399" }, "publicationId": "PMID:21989859" }, "phenotypeStatement": "Depression", "dateAssigned": "2019-02-13T17:11:37.000-06:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508399" }, "publicationId": "PMID:21989859" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2019-02-13T17:11:37.000-06:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011446", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508399" }, "publicationId": "PMID:21989859" }, "phenotypeStatement": "Abnormality of mental function", "dateAssigned": "2019-02-13T17:11:37.000-06:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004841", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041862" }, "publicationId": "PMID:15232129" }, "phenotypeStatement": "Reduced factor XII activity", "dateAssigned": "2017-12-07T14:27:17.000-06:00", "objectId": "HGNC:3530" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000572", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5686339" }, "publicationId": "PMID:19394449" }, "phenotypeStatement": "Visual loss", "dateAssigned": "2018-12-18T16:04:59.000-06:00", "objectId": "HGNC:7460" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6771224" }, "publicationId": "PMID:15488875" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2017-12-11T12:52:53.000-06:00", "objectId": "HGNC:8823" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6771224" }, "publicationId": "PMID:15488875" }, "phenotypeStatement": "Abnormal EKG", "dateAssigned": "2017-12-11T12:52:54.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893466" }, "publicationId": "PMID:16172608" }, "phenotypeStatement": "Atypical behavior", "dateAssigned": "2017-12-11T16:22:20.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893469" }, "publicationId": "PMID:21613384" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2017-12-11T17:34:54.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535130" }, "publicationId": "PMID:20378560" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-26T13:44:56.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535130" }, "publicationId": "PMID:20378560" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-09-26T13:44:56.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535130" }, "publicationId": "PMID:20378560" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-26T13:44:56.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5687327" }, "publicationId": "PMID:22012848" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2016-08-29T16:28:41.000-05:00", "objectId": "HGNC:983" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002579", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039298" }, "publicationId": "PMID:20142534" }, "phenotypeStatement": "Gastrointestinal dysmotility", "dateAssigned": "2019-11-27T13:20:46.000-06:00", "objectId": "HGNC:9179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003207", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6906932" }, "publicationId": "PMID:20016754" }, "phenotypeStatement": "Arterial calcification", "dateAssigned": "2017-07-12T17:00:39.000-05:00", "objectId": "HGNC:3356" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009826", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11072411" }, "publicationId": "PMID:21155763" }, "phenotypeStatement": "Limb undergrowth", "dateAssigned": "2017-08-23T13:46:02.000-05:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002947", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11072411" }, "publicationId": "PMID:21155763" }, "phenotypeStatement": "Cervical kyphosis", "dateAssigned": "2017-08-23T13:46:02.000-05:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001609", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11072411" }, "publicationId": "PMID:21155763" }, "phenotypeStatement": "Hoarse voice", "dateAssigned": "2017-08-23T13:46:02.000-05:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800711" }, "publicationId": "PMID:19247456" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-14T11:31:14.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800711" }, "publicationId": "PMID:19247456" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2018-03-14T11:31:14.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800711" }, "publicationId": "PMID:19247456" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-03-14T11:31:14.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11541115" }, "publicationId": "PMID:16900296" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2016-10-10T12:59:12.000-05:00", "objectId": "HGNC:17272" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001328", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910975" }, "publicationId": "PMID:19238550" }, "phenotypeStatement": "Specific learning disability", "dateAssigned": "2017-06-30T14:36:47.000-05:00", "objectId": "HGNC:18141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032198", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925160" }, "publicationId": "PMID:23292505" }, "phenotypeStatement": "Decreased prothrombin time", "dateAssigned": "2021-05-13T15:16:37.000-05:00", "objectId": "HGNC:31533" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030878", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11059535" }, "publicationId": "PMID:12000493" }, "phenotypeStatement": "Abnormality on pulmonary function testing", "dateAssigned": "2017-11-16T13:03:49.000-06:00", "objectId": "HGNC:11608" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210511" }, "publicationId": "PMID:15909295" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2017-09-01T14:00:27.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548490" }, "publicationId": "PMID:23402891" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2019-05-08T11:20:57.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007722", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548490" }, "publicationId": "PMID:23402891" }, "phenotypeStatement": "Retinal pigment epithelial atrophy", "dateAssigned": "2019-05-08T11:20:57.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030469", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548490" }, "publicationId": "PMID:23402891" }, "phenotypeStatement": "Abnormal dark-adapted electroretinogram", "dateAssigned": "2019-05-08T11:20:57.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001410", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1566516" }, "publicationId": "PMID:8755644" }, "phenotypeStatement": "Decreased liver function", "dateAssigned": "2016-06-29T13:43:27.000-05:00", "objectId": "HGNC:321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2683526" }, "publicationId": "PMID:19377877" }, "phenotypeStatement": "Abnormal breast morphology", "dateAssigned": "2017-10-23T12:25:39.000-05:00", "objectId": "HGNC:16696" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000219", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535958" }, "publicationId": "PMID:11950863" }, "phenotypeStatement": "Thin upper lip vermilion", "dateAssigned": "2016-09-23T15:58:14.000-05:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535958" }, "publicationId": "PMID:11950863" }, "phenotypeStatement": "Lobulated tongue", "dateAssigned": "2016-09-23T15:58:14.000-05:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000430", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535958" }, "publicationId": "PMID:11950863" }, "phenotypeStatement": "Underdeveloped nasal alae", "dateAssigned": "2016-09-23T15:58:14.000-05:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535953" }, "publicationId": "PMID:24954533" }, "phenotypeStatement": "Aplasia/Hypoplasia of the phalanges of the hand", "dateAssigned": "2016-09-23T11:40:42.000-05:00", "objectId": "HGNC:10257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000002", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535959" }, "publicationId": "PMID:19893584" }, "phenotypeStatement": "Abnormality of body height", "dateAssigned": "2016-09-23T16:41:29.000-05:00", "objectId": "HGNC:26620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535959" }, "publicationId": "PMID:19893584" }, "phenotypeStatement": "Small for gestational age", "dateAssigned": "2016-09-23T16:41:29.000-05:00", "objectId": "HGNC:26620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011344", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11067701" }, "publicationId": "PMID:18954413" }, "phenotypeStatement": "Severe global developmental delay", "dateAssigned": "2017-04-12T10:33:03.000-05:00", "objectId": "HGNC:20766" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11067701" }, "publicationId": "PMID:18954413" }, "phenotypeStatement": "Aplasia/Hypoplasia of the cerebellum", "dateAssigned": "2017-04-12T10:33:03.000-05:00", "objectId": "HGNC:20766" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001274", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11067701" }, "publicationId": "PMID:18954413" }, "phenotypeStatement": "Agenesis of corpus callosum", "dateAssigned": "2017-04-12T10:33:03.000-05:00", "objectId": "HGNC:20766" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002363", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11067701" }, "publicationId": "PMID:18954413" }, "phenotypeStatement": "Abnormal brainstem morphology", "dateAssigned": "2017-04-12T10:33:03.000-05:00", "objectId": "HGNC:20766" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11067701" }, "publicationId": "PMID:18954413" }, "phenotypeStatement": "Ventriculomegaly", "dateAssigned": "2017-04-12T10:33:03.000-05:00", "objectId": "HGNC:20766" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005425", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40907055" }, "publicationId": "PMID:33301882" }, "phenotypeStatement": "Recurrent sinopulmonary infections", "dateAssigned": "2021-01-12T09:58:49.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429592" }, "publicationId": "PMID:27276713" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-09-07T15:13:11.000-05:00", "objectId": "HGNC:2514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005086", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10043199" }, "publicationId": "PMID:16098017" }, "phenotypeStatement": "Knee osteoarthritis", "dateAssigned": "2019-08-07T17:37:54.000-05:00", "objectId": "HGNC:644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005086", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045835" }, "publicationId": "PMID:20128071" }, "phenotypeStatement": "Knee osteoarthritis", "dateAssigned": "2019-08-07T17:18:08.000-05:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005413", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449407" }, "publicationId": "PMID:21644011" }, "phenotypeStatement": "Elevated circulating alpha-globulin concentration", "dateAssigned": "2019-03-11T15:18:29.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449407" }, "publicationId": "PMID:21644011" }, "phenotypeStatement": "Anemia", "dateAssigned": "2019-03-11T15:18:29.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449014" }, "publicationId": "PMID:14764528" }, "phenotypeStatement": "Increased megakaryocyte count", "dateAssigned": "2018-08-01T10:46:47.000-05:00", "objectId": "HGNC:7217" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449043" }, "publicationId": "PMID:18031293" }, "phenotypeStatement": "Anemia", "dateAssigned": "2018-08-01T14:09:56.000-05:00", "objectId": "HGNC:1366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449043" }, "publicationId": "PMID:18031293" }, "phenotypeStatement": "Abnormal erythrocyte morphology", "dateAssigned": "2018-08-01T14:09:56.000-05:00", "objectId": "HGNC:1366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001894", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449014" }, "publicationId": "PMID:14764528" }, "phenotypeStatement": "Thrombocytosis", "dateAssigned": "2018-08-01T10:46:47.000-05:00", "objectId": "HGNC:7217" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000639", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11561921" }, "publicationId": "PMID:22152675" }, "phenotypeStatement": "Nystagmus", "dateAssigned": "2016-11-11T12:10:53.000-06:00", "objectId": "HGNC:14432" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535966" }, "publicationId": "PMID:16397067" }, "phenotypeStatement": "Polycystic kidney dysplasia", "dateAssigned": "2016-09-26T12:58:44.000-05:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535967" }, "publicationId": "PMID:19061985" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-26T14:04:22.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535967" }, "publicationId": "PMID:19061985" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-09-26T14:04:22.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535967" }, "publicationId": "PMID:19061985" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-26T14:04:22.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011297", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535951" }, "publicationId": "PMID:19461659" }, "phenotypeStatement": "Abnormal digit morphology", "dateAssigned": "2016-09-23T11:09:00.000-05:00", "objectId": "HGNC:10257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535951" }, "publicationId": "PMID:19461659" }, "phenotypeStatement": "Cutaneous syndactyly", "dateAssigned": "2016-09-23T11:09:00.000-05:00", "objectId": "HGNC:10257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535967" }, "publicationId": "PMID:19061985" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-26T14:04:22.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001583", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11561919" }, "publicationId": "PMID:20036350" }, "phenotypeStatement": "Rotary nystagmus", "dateAssigned": "2016-11-11T10:57:17.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11561919" }, "publicationId": "PMID:20036350" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2016-11-11T10:57:17.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11561919" }, "publicationId": "PMID:20036350" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2016-11-11T10:57:17.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11067331" }, "publicationId": "PMID:20512146" }, "phenotypeStatement": "Renal cyst", "dateAssigned": "2016-11-11T11:23:31.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11561921" }, "publicationId": "PMID:22152675" }, "phenotypeStatement": "Renal cyst", "dateAssigned": "2016-11-11T12:09:07.000-06:00", "objectId": "HGNC:14432" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006162", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12793073" }, "publicationId": "PMID:21784728" }, "phenotypeStatement": "Soft tissue swelling of interphalangeal joints", "dateAssigned": "2017-03-21T12:09:43.000-05:00", "objectId": "HGNC:6323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006253", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12793073" }, "publicationId": "PMID:21784728" }, "phenotypeStatement": "Swelling of proximal interphalangeal joints", "dateAssigned": "2017-03-21T12:09:43.000-05:00", "objectId": "HGNC:6323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001387", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12793073" }, "publicationId": "PMID:21784728" }, "phenotypeStatement": "Joint stiffness", "dateAssigned": "2017-03-21T12:09:43.000-05:00", "objectId": "HGNC:6323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002206", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12798506" }, "publicationId": "PMID:10195071" }, "phenotypeStatement": "Pulmonary fibrosis", "dateAssigned": "2017-03-23T13:08:27.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535967" }, "publicationId": "PMID:19061985" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-09-26T14:04:22.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535967" }, "publicationId": "PMID:19061985" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-26T14:04:22.000-05:00", "objectId": "HGNC:10360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033770", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285393" }, "publicationId": "PMID:9506344" }, "phenotypeStatement": "Gastric adenocarcinoma", "dateAssigned": "2021-06-21T12:44:04.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200036", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547660" }, "publicationId": "PMID:22117902" }, "phenotypeStatement": "Skin nodule", "dateAssigned": "2021-06-21T12:51:09.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020108", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547660" }, "publicationId": "PMID:22117902" }, "phenotypeStatement": "Unusual parasitic infection", "dateAssigned": "2021-06-21T12:51:02.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002419", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11067331" }, "publicationId": "PMID:20512146" }, "phenotypeStatement": "Molar tooth sign on MRI", "dateAssigned": "2016-11-11T11:22:19.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535969" }, "publicationId": "PMID:25946618" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-26T14:45:40.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535969" }, "publicationId": "PMID:25946618" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-09-26T14:45:40.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535969" }, "publicationId": "PMID:25946618" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-26T14:45:40.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000002", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535962" }, "publicationId": "PMID:21998595" }, "phenotypeStatement": "Abnormality of body height", "dateAssigned": "2016-09-23T17:13:52.000-05:00", "objectId": "HGNC:26620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535965" }, "publicationId": "PMID:16783569" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2016-09-23T19:21:21.000-05:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007803", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9068446" }, "publicationId": "PMID:17265047" }, "phenotypeStatement": "Monochromacy", "dateAssigned": "2016-05-20T15:45:19.000-05:00", "objectId": "HGNC:2153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893453" }, "publicationId": "PMID:12387655" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2017-12-11T15:22:20.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002143", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893455" }, "publicationId": "PMID:10791559" }, "phenotypeStatement": "Abnormal spinal cord morphology", "dateAssigned": "2017-12-11T16:46:22.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210511" }, "publicationId": "PMID:15909295" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2017-09-01T14:00:27.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000752", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210511" }, "publicationId": "PMID:15909295" }, "phenotypeStatement": "Hyperactivity", "dateAssigned": "2017-09-01T14:00:27.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010865", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210511" }, "publicationId": "PMID:15909295" }, "phenotypeStatement": "Oppositional defiant disorder", "dateAssigned": "2017-09-01T14:00:27.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001328", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910973" }, "publicationId": "PMID:20068590" }, "phenotypeStatement": "Specific learning disability", "dateAssigned": "2017-06-30T13:55:31.000-05:00", "objectId": "HGNC:18141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285389" }, "publicationId": "PMID:29093318" }, "phenotypeStatement": "Chronic hepatitis", "dateAssigned": "2021-06-18T13:34:20.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011118", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285389" }, "publicationId": "PMID:29093318" }, "phenotypeStatement": "Abnormality of tumor necrosis factor secretion", "dateAssigned": "2021-06-18T13:34:47.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126928143" }, "publicationId": "PMID:15622476" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2021-06-01T12:30:16.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100659", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13204735" }, "publicationId": "PMID:23422753" }, "phenotypeStatement": "Abnormal cerebral vascular morphology", "dateAssigned": "2017-07-17T16:29:42.000-05:00", "objectId": "HGNC:3356" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14398759" }, "publicationId": "PMID:14562382" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-06-18T13:53:43.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003745", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429759" }, "publicationId": "PMID:27373035" }, "phenotypeStatement": "Sporadic", "dateAssigned": "2021-09-27T12:11:29.000-05:00", "objectId": "HGNC:6844" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548899" }, "publicationId": "PMID:21633717" }, "phenotypeStatement": "Sudden loss of visual acuity", "dateAssigned": "2018-12-06T12:09:06.000-06:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548899" }, "publicationId": "PMID:21633717" }, "phenotypeStatement": "Marcus Gunn pupil", "dateAssigned": "2018-12-06T12:09:06.000-06:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548899" }, "publicationId": "PMID:21633717" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-12-06T12:09:06.000-06:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548899" }, "publicationId": "PMID:21633717" }, "phenotypeStatement": "Abnormal fundus morphology", "dateAssigned": "2018-12-06T12:09:06.000-06:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11352753" }, "publicationId": "PMID:24997152" }, "phenotypeStatement": "Abnormal hemoglobin", "dateAssigned": "2016-07-19T12:41:06.000-05:00", "objectId": "HGNC:1455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011893", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11352753" }, "publicationId": "PMID:24997152" }, "phenotypeStatement": "Abnormal leukocyte count", "dateAssigned": "2016-07-19T12:41:06.000-05:00", "objectId": "HGNC:1455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030603", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488954" }, "publicationId": "PMID:21212706" }, "phenotypeStatement": "Abnormal optical coherence tomography", "dateAssigned": "2018-03-13T13:20:18.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030604", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7488954" }, "publicationId": "PMID:21212706" }, "phenotypeStatement": "Abnormal fundus fluorescein angiography", "dateAssigned": "2018-03-13T13:20:18.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001102", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038778" }, "publicationId": "PMID:15459974" }, "phenotypeStatement": "Angioid streaks", "dateAssigned": "2016-08-19T13:54:12.000-05:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011506", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12792224" }, "publicationId": "PMID:28221473" }, "phenotypeStatement": "Choroidal neovascularization", "dateAssigned": "2018-03-13T12:17:39.000-05:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000541", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12792224" }, "publicationId": "PMID:28221473" }, "phenotypeStatement": "Retinal detachment", "dateAssigned": "2018-03-13T12:17:39.000-05:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025243", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12792224" }, "publicationId": "PMID:28221473" }, "phenotypeStatement": "Subretinal hemorrhage", "dateAssigned": "2018-03-13T12:17:39.000-05:00", "objectId": "HGNC:4641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800664" }, "publicationId": "PMID:16319821" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-03-13T16:26:52.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800664" }, "publicationId": "PMID:16319821" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-13T16:26:52.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007957", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800682" }, "publicationId": "PMID:15621878" }, "phenotypeStatement": "Corneal opacity", "dateAssigned": "2018-03-15T11:31:10.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041894" }, "publicationId": "PMID:25051072" }, "phenotypeStatement": "Abnormal hemoglobin", "dateAssigned": "2019-04-04T16:18:55.000-05:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003454", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041894" }, "publicationId": "PMID:25051072" }, "phenotypeStatement": "Platelet antibody positive", "dateAssigned": "2019-04-04T16:19:23.000-05:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020169", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540313" }, "publicationId": "PMID:29066969" }, "phenotypeStatement": "Abnormal drug response", "dateAssigned": "2021-12-31T16:57:22.000-06:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829785" }, "publicationId": "PMID:7555560" }, "phenotypeStatement": "Abnormal EKG", "dateAssigned": "2018-03-15T13:19:50.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038788" }, "publicationId": "PMID:12176944" }, "phenotypeStatement": "Abnormal circulating cholesterol concentration", "dateAssigned": "2016-08-19T13:39:38.000-05:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000531", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910937" }, "publicationId": "PMID:10625078" }, "phenotypeStatement": "Corneal crystals", "dateAssigned": "2017-06-28T10:49:12.000-05:00", "objectId": "HGNC:2518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000718", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040586" }, "publicationId": "PMID:12116232" }, "phenotypeStatement": "Aggressive behavior", "dateAssigned": "2018-09-11T11:09:07.000-05:00", "objectId": "HGNC:886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11098666" }, "publicationId": "PMID:24362944" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-04T21:42:27.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11098891" }, "publicationId": "PMID:26032235" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-04T20:48:31.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003323", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:737689" }, "publicationId": "PMID:8446170" }, "phenotypeStatement": "Progressive muscle weakness", "dateAssigned": "2017-08-25T15:06:56.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001132", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910459" }, "publicationId": "PMID:8894692" }, "phenotypeStatement": "Lens subluxation", "dateAssigned": "2017-06-14T11:40:40.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910459" }, "publicationId": "PMID:8894692" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2017-06-14T11:40:40.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000577", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910134" }, "publicationId": "PMID:25729264" }, "phenotypeStatement": "Exotropia", "dateAssigned": "2017-06-13T15:05:08.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910134" }, "publicationId": "PMID:25729264" }, "phenotypeStatement": "Arachnodactyly", "dateAssigned": "2017-06-13T15:05:08.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910134" }, "publicationId": "PMID:25729264" }, "phenotypeStatement": "Hyperextensible skin", "dateAssigned": "2017-06-13T15:05:08.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8142355" }, "publicationId": "PMID:16385653" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2018-03-15T17:45:22.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000488", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8142355" }, "publicationId": "PMID:16385653" }, "phenotypeStatement": "Retinopathy", "dateAssigned": "2018-03-15T17:45:22.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8142355" }, "publicationId": "PMID:16385653" }, "phenotypeStatement": "Elevated circulating creatinine concentration", "dateAssigned": "2018-03-15T17:45:22.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8142355" }, "publicationId": "PMID:16385653" }, "phenotypeStatement": "Albuminuria", "dateAssigned": "2018-03-15T17:45:22.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547956" }, "publicationId": "PMID:18452394" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2018-03-19T16:19:38.000-05:00", "objectId": "HGNC:12601" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547956" }, "publicationId": "PMID:18452394" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2018-03-19T16:19:38.000-05:00", "objectId": "HGNC:12601" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000550", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547963" }, "publicationId": "PMID:20309401" }, "phenotypeStatement": "Undetectable electroretinogram", "dateAssigned": "2018-03-19T17:47:13.000-05:00", "objectId": "HGNC:12601" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13513986" }, "publicationId": "PMID:25313554" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2018-03-19T13:41:04.000-05:00", "objectId": "HGNC:1402" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800689" }, "publicationId": "PMID:19597567" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-13T17:28:00.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000485", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800689" }, "publicationId": "PMID:19597567" }, "phenotypeStatement": "Megalocornea", "dateAssigned": "2018-03-13T17:28:00.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000557", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800689" }, "publicationId": "PMID:19597567" }, "phenotypeStatement": "Buphthalmos", "dateAssigned": "2018-03-13T17:28:00.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800689" }, "publicationId": "PMID:19597567" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-03-13T17:28:00.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012040", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800689" }, "publicationId": "PMID:19597567" }, "phenotypeStatement": "Corneal stromal edema", "dateAssigned": "2018-03-13T17:28:00.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775055" }, "publicationId": "PMID:22561696" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-08T14:50:15.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775055" }, "publicationId": "PMID:22561696" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-08T14:50:15.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001138", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775055" }, "publicationId": "PMID:22561696" }, "phenotypeStatement": "Optic neuropathy", "dateAssigned": "2018-03-08T14:50:15.000-06:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011838", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12798510" }, "publicationId": "PMID:15135176" }, "phenotypeStatement": "Sclerodactyly", "dateAssigned": "2017-03-22T14:24:06.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12798510" }, "publicationId": "PMID:15135176" }, "phenotypeStatement": "Scleroderma", "dateAssigned": "2017-03-22T14:24:06.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001211", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12798510" }, "publicationId": "PMID:15135176" }, "phenotypeStatement": "Abnormal fingertip morphology", "dateAssigned": "2017-03-22T14:24:06.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002206", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12798510" }, "publicationId": "PMID:15135176" }, "phenotypeStatement": "Pulmonary fibrosis", "dateAssigned": "2017-03-22T14:24:06.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010297", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535960" }, "publicationId": "PMID:21729220" }, "phenotypeStatement": "Bifid tongue", "dateAssigned": "2016-09-23T16:48:35.000-05:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030603", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800657" }, "publicationId": "PMID:23922489" }, "phenotypeStatement": "Abnormal optical coherence tomography", "dateAssigned": "2018-03-13T15:28:03.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150539454" }, "publicationId": "PMID:33765714" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2021-12-28T17:32:44.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800707" }, "publicationId": "PMID:12567107" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-13T18:03:12.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800707" }, "publicationId": "PMID:12567107" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-03-13T18:03:12.000-05:00", "objectId": "HGNC:2597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11352753" }, "publicationId": "PMID:24997152" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2016-07-19T12:41:06.000-05:00", "objectId": "HGNC:1455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551812" }, "publicationId": "PMID:20628649" }, "phenotypeStatement": "Fever", "dateAssigned": "2018-09-11T13:46:44.000-05:00", "objectId": "HGNC:1606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450481" }, "publicationId": "PMID:22126643" }, "phenotypeStatement": "Failure to thrive", "dateAssigned": "2018-08-01T14:26:21.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14695014" }, "publicationId": "PMID:23790025" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-07-03T12:55:34.000-05:00", "objectId": "HGNC:3229" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001010", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158067" }, "publicationId": "PMID:19105801" }, "phenotypeStatement": "Hypopigmentation of the skin", "dateAssigned": "2014-02-06T18:14:01.000-06:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002031", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12792229" }, "publicationId": "PMID:20740495" }, "phenotypeStatement": "Abnormal esophagus morphology", "dateAssigned": "2017-03-23T13:23:13.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147621" }, "publicationId": "PMID:18155707" }, "phenotypeStatement": "Pancreatitis", "dateAssigned": "2019-08-06T16:42:00.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508416" }, "publicationId": "PMID:20669305" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T13:25:00.000-05:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10003142" }, "publicationId": "PMID:19864451" }, "phenotypeStatement": "Hip osteoarthritis", "dateAssigned": "2019-08-08T11:48:53.000-05:00", "objectId": "HGNC:4263" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002758", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045830" }, "publicationId": "PMID:19884274" }, "phenotypeStatement": "Osteoarthritis", "dateAssigned": "2019-08-08T12:20:54.000-05:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490156" }, "publicationId": "PMID:21791235" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T14:09:25.000-05:00", "objectId": "HGNC:4947" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100615", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657369" }, "publicationId": "PMID:24698998" }, "phenotypeStatement": "Ovarian neoplasm", "dateAssigned": "2019-08-06T17:13:04.000-05:00", "objectId": "HGNC:8125" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012714", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11100026" }, "publicationId": "PMID:19043416" }, "phenotypeStatement": "Severe hearing impairment", "dateAssigned": "2016-06-14T14:15:12.000-05:00", "objectId": "HGNC:362" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001879", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11100049" }, "publicationId": "PMID:25017104" }, "phenotypeStatement": "Abnormal eosinophil morphology", "dateAssigned": "2016-06-14T17:53:32.000-05:00", "objectId": "HGNC:16664" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450870" }, "publicationId": "PMID:21921040" }, "phenotypeStatement": "Increased megakaryocyte count", "dateAssigned": "2018-08-13T15:38:30.000-05:00", "objectId": "HGNC:3527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012143", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450870" }, "publicationId": "PMID:21921040" }, "phenotypeStatement": "Abnormal megakaryocyte morphology", "dateAssigned": "2018-08-13T15:38:30.000-05:00", "objectId": "HGNC:3527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100529", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6906931" }, "publicationId": "PMID:20137772" }, "phenotypeStatement": "Abnormal blood phosphate concentration", "dateAssigned": "2017-07-17T16:02:29.000-05:00", "objectId": "HGNC:3356" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000201", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12436723" }, "publicationId": "PMID:18276201" }, "phenotypeStatement": "Pierre-Robin sequence", "dateAssigned": "2017-01-24T10:13:24.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535122" }, "publicationId": "PMID:19191325" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-26T13:14:28.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535122" }, "publicationId": "PMID:19191325" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-09-26T13:14:28.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535122" }, "publicationId": "PMID:19191325" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-26T13:14:28.000-05:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925986" }, "publicationId": "PMID:17845309" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2021-05-25T12:50:17.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925990" }, "publicationId": "PMID:11972882" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2021-05-25T13:10:14.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002091", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552597" }, "publicationId": "PMID:25928290" }, "phenotypeStatement": "Restrictive ventilatory defect", "dateAssigned": "2016-10-12T14:56:22.000-05:00", "objectId": "HGNC:19367" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025333", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11098055" }, "publicationId": "PMID:24055421" }, "phenotypeStatement": "Cortical thinning of foot bones", "dateAssigned": "2017-03-07T14:56:52.000-06:00", "objectId": "HGNC:5136" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002633", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827144" }, "publicationId": "PMID:32567246" }, "phenotypeStatement": "Vasculitis", "dateAssigned": "2023-09-25T12:07:29.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340558" }, "publicationId": "PMID:25576295" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2021-08-15T21:57:06.000-05:00", "objectId": "HGNC:10682" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012432", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340567" }, "publicationId": "PMID:21468604" }, "phenotypeStatement": "Chronic fatigue", "dateAssigned": "2021-08-16T16:03:19.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688230" }, "publicationId": "PMID:15372378" }, "phenotypeStatement": "Muscle spasm", "dateAssigned": "2018-10-12T11:43:28.000-05:00", "objectId": "HGNC:12649" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002380", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688230" }, "publicationId": "PMID:15372378" }, "phenotypeStatement": "Fasciculations", "dateAssigned": "2018-10-12T11:43:28.000-05:00", "objectId": "HGNC:12649" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003690", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688230" }, "publicationId": "PMID:15372378" }, "phenotypeStatement": "Limb muscle weakness", "dateAssigned": "2018-10-12T11:43:28.000-05:00", "objectId": "HGNC:12649" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100297", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483361" }, "publicationId": "PMID:21665002" }, "phenotypeStatement": "Increased endomysial connective tissue", "dateAssigned": "2018-10-12T13:46:41.000-05:00", "objectId": "HGNC:1938" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004303", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483361" }, "publicationId": "PMID:21665002" }, "phenotypeStatement": "Abnormal muscle fiber morphology", "dateAssigned": "2018-10-12T13:46:41.000-05:00", "objectId": "HGNC:1938" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012722", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8142351" }, "publicationId": "PMID:19648063" }, "phenotypeStatement": "Heart block", "dateAssigned": "2018-03-15T17:07:17.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031593", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8142351" }, "publicationId": "PMID:19648063" }, "phenotypeStatement": "Abnormal PR interval", "dateAssigned": "2018-03-15T17:07:17.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13513986" }, "publicationId": "PMID:25313554" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2018-03-19T13:39:37.000-05:00", "objectId": "HGNC:259" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13513986" }, "publicationId": "PMID:25313554" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2018-03-19T13:39:37.000-05:00", "objectId": "HGNC:259" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13513986" }, "publicationId": "PMID:25313554" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2018-03-19T13:32:57.000-05:00", "objectId": "HGNC:333" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0045056", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540310" }, "publicationId": "PMID:31915469" }, "phenotypeStatement": "Abnormal circulating alpha-fetoprotein concentration", "dateAssigned": "2021-12-31T16:43:57.000-06:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540303" }, "publicationId": "PMID:23674172" }, "phenotypeStatement": "Maturity-onset diabetes of the young", "dateAssigned": "2021-12-31T16:47:39.000-06:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540303" }, "publicationId": "PMID:23674172" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2021-12-31T16:48:07.000-06:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925185" }, "publicationId": "PMID:27819716" }, "phenotypeStatement": "Kaposi's sarcoma", "dateAssigned": "2021-05-13T17:35:06.000-05:00", "objectId": "HGNC:31533" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907082" }, "publicationId": "PMID:19280228" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2017-12-20T15:05:09.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200041", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694347" }, "publicationId": "PMID:19001803" }, "phenotypeStatement": "Skin erosion", "dateAssigned": "2018-04-27T14:52:08.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010473", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694347" }, "publicationId": "PMID:19001803" }, "phenotypeStatement": "Porphyrinuria", "dateAssigned": "2018-04-27T14:52:08.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008066", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694347" }, "publicationId": "PMID:19001803" }, "phenotypeStatement": "Abnormal blistering of the skin", "dateAssigned": "2018-04-27T14:52:08.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100659", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6904207" }, "publicationId": "PMID:19251191" }, "phenotypeStatement": "Abnormal cerebral vascular morphology", "dateAssigned": "2017-12-20T13:07:17.000-06:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6903233" }, "publicationId": "PMID:10027549" }, "phenotypeStatement": "Dementia", "dateAssigned": "2017-12-20T11:10:29.000-06:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040224", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11353853" }, "publicationId": "PMID:12138371" }, "phenotypeStatement": "Abnormality of fibrinolysis", "dateAssigned": "2016-07-25T13:12:04.000-05:00", "objectId": "HGNC:4798" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829794" }, "publicationId": "PMID:23065222" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-03-15T13:29:14.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829797" }, "publicationId": "PMID:23170137" }, "phenotypeStatement": "Abnormal EKG", "dateAssigned": "2018-03-15T14:55:51.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158040" }, "publicationId": "PMID:11528384" }, "phenotypeStatement": "Arthritis", "dateAssigned": "2018-03-15T18:05:38.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002091", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552597" }, "publicationId": "PMID:25928290" }, "phenotypeStatement": "Restrictive ventilatory defect", "dateAssigned": "2016-10-12T14:56:06.000-05:00", "objectId": "HGNC:14866" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6903838" }, "publicationId": "PMID:21357213" }, "phenotypeStatement": "Abnormal circulating cholesterol concentration", "dateAssigned": "2017-12-20T12:36:43.000-06:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6906881" }, "publicationId": "PMID:22795294" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2017-12-20T13:42:19.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000079", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907399" }, "publicationId": "PMID:18186699" }, "phenotypeStatement": "Abnormality of the urinary system", "dateAssigned": "2017-12-21T13:07:52.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907409" }, "publicationId": "PMID:17069782" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2017-12-21T13:57:10.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907081" }, "publicationId": "PMID:19489682" }, "phenotypeStatement": "Abnormal bladder morphology", "dateAssigned": "2017-12-20T14:22:03.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6909118" }, "publicationId": "PMID:12138282" }, "phenotypeStatement": "Abnormality of urine homeostasis", "dateAssigned": "2017-12-21T14:33:58.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000951", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6909135" }, "publicationId": "PMID:7927338" }, "phenotypeStatement": "Abnormality of the skin", "dateAssigned": "2017-12-21T15:36:41.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907105" }, "publicationId": "PMID:12837270" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2017-12-20T15:55:03.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907105" }, "publicationId": "PMID:12837270" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2017-12-20T15:55:03.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11667954" }, "publicationId": "PMID:12511349" }, "phenotypeStatement": "Optically empty vitreous", "dateAssigned": "2017-01-19T12:30:18.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394713" }, "publicationId": "PMID:19933195" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-02-07T16:44:27.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581778" }, "publicationId": "PMID:16061733" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2018-02-07T18:02:20.000-06:00", "objectId": "HGNC:6522" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011227", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581778" }, "publicationId": "PMID:16061733" }, "phenotypeStatement": "Elevated circulating C-reactive protein concentration", "dateAssigned": "2018-02-07T18:02:20.000-06:00", "objectId": "HGNC:6522" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6906961" }, "publicationId": "PMID:10916103" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2017-12-20T13:50:59.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907128" }, "publicationId": "PMID:17258699" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2017-12-20T16:02:47.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907367" }, "publicationId": "PMID:16698387" }, "phenotypeStatement": "Abnormal bladder morphology", "dateAssigned": "2017-12-20T16:42:42.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000152", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535969" }, "publicationId": "PMID:25946618" }, "phenotypeStatement": "Abnormality of head or neck", "dateAssigned": "2017-02-13T14:22:07.000-06:00", "objectId": "HGNC:10301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210520" }, "publicationId": "PMID:18951431" }, "phenotypeStatement": "Small superior frontal cortex", "dateAssigned": "2017-09-01T16:21:17.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003452", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11353867" }, "publicationId": "PMID:18842790" }, "phenotypeStatement": "Increased circulating iron concentration", "dateAssigned": "2016-07-25T17:46:19.000-05:00", "objectId": "HGNC:4827" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003281", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11353867" }, "publicationId": "PMID:18842790" }, "phenotypeStatement": "Increased circulating ferritin concentration", "dateAssigned": "2016-07-25T17:46:19.000-05:00", "objectId": "HGNC:4827" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9590157" }, "publicationId": "PMID:23599694" }, "phenotypeStatement": "Short stature", "dateAssigned": "2018-07-06T12:18:20.000-05:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040195", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9590157" }, "publicationId": "PMID:23599694" }, "phenotypeStatement": "Decreased head circumference", "dateAssigned": "2018-07-06T12:18:20.000-05:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9590157" }, "publicationId": "PMID:23599694" }, "phenotypeStatement": "Decreased body weight", "dateAssigned": "2018-07-06T12:18:20.000-05:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000729", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11554206" }, "publicationId": "PMID:23422940" }, "phenotypeStatement": "Autistic behavior", "dateAssigned": "2016-10-25T16:18:58.000-05:00", "objectId": "HGNC:20444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11554206" }, "publicationId": "PMID:23422940" }, "phenotypeStatement": "Language impairment", "dateAssigned": "2016-10-25T16:18:58.000-05:00", "objectId": "HGNC:20444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008762", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11554206" }, "publicationId": "PMID:23422940" }, "phenotypeStatement": "Repetitive compulsive behavior", "dateAssigned": "2016-10-25T16:18:58.000-05:00", "objectId": "HGNC:20444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11554206" }, "publicationId": "PMID:23422940" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2016-10-25T16:18:58.000-05:00", "objectId": "HGNC:20444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11554206" }, "publicationId": "PMID:23422940" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2016-10-25T16:18:58.000-05:00", "objectId": "HGNC:20444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893451" }, "publicationId": "PMID:22897803" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2012-08-29T08:39:59.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886285" }, "publicationId": "PMID:25548683" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-04T22:28:26.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11536538" }, "publicationId": "PMID:25707398" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2020-05-19T14:44:01.000-05:00", "objectId": "HGNC:3091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11536538" }, "publicationId": "PMID:25707398" }, "phenotypeStatement": "Motor stereotypy", "dateAssigned": "2020-05-19T14:44:01.000-05:00", "objectId": "HGNC:3091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11536538" }, "publicationId": "PMID:25707398" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2020-05-19T14:44:01.000-05:00", "objectId": "HGNC:3091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11536538" }, "publicationId": "PMID:25707398" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2020-05-19T14:44:01.000-05:00", "objectId": "HGNC:3091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001276", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11536538" }, "publicationId": "PMID:25707398" }, "phenotypeStatement": "Hypertonia", "dateAssigned": "2020-05-19T14:44:01.000-05:00", "objectId": "HGNC:3091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008872", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11536538" }, "publicationId": "PMID:25707398" }, "phenotypeStatement": "Feeding difficulties in infancy", "dateAssigned": "2020-05-19T14:44:01.000-05:00", "objectId": "HGNC:3091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001760", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11536538" }, "publicationId": "PMID:25707398" }, "phenotypeStatement": "Abnormal foot morphology", "dateAssigned": "2020-05-19T14:44:01.000-05:00", "objectId": "HGNC:3091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000399", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9479156" }, "publicationId": "PMID:12114484" }, "phenotypeStatement": "Prelingual sensorineural hearing impairment", "dateAssigned": "2018-05-15T15:32:16.000-05:00", "objectId": "HGNC:8515" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031428", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210789" }, "publicationId": "PMID:23155691" }, "phenotypeStatement": "Increased circulating osteocalcin level", "dateAssigned": "2017-09-11T10:42:00.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657123" }, "publicationId": "PMID:19732751" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-12-19T13:04:14.000-06:00", "objectId": "HGNC:7462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011446", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600471" }, "publicationId": "PMID:16474404" }, "phenotypeStatement": "Abnormality of mental function", "dateAssigned": "2016-05-20T13:54:29.000-05:00", "objectId": "HGNC:1097" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001507", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600471" }, "publicationId": "PMID:16474404" }, "phenotypeStatement": "Growth abnormality", "dateAssigned": "2016-05-20T13:54:29.000-05:00", "objectId": "HGNC:1097" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011821", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600471" }, "publicationId": "PMID:16474404" }, "phenotypeStatement": "Abnormal facial skeleton morphology", "dateAssigned": "2016-05-20T13:54:29.000-05:00", "objectId": "HGNC:1097" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600471" }, "publicationId": "PMID:16474404" }, "phenotypeStatement": "Abnormal epidermal morphology", "dateAssigned": "2016-05-20T13:54:29.000-05:00", "objectId": "HGNC:1097" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600471" }, "publicationId": "PMID:16474404" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2016-05-20T13:54:29.000-05:00", "objectId": "HGNC:1097" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025100", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11067701" }, "publicationId": "PMID:18954413" }, "phenotypeStatement": "Abnormal hippocampus morphology", "dateAssigned": "2017-04-12T10:33:03.000-05:00", "objectId": "HGNC:20766" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12859034" }, "publicationId": "PMID:23124040" }, "phenotypeStatement": "Macrocephaly", "dateAssigned": "2017-04-12T16:13:27.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000988", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158051" }, "publicationId": "PMID:19116920" }, "phenotypeStatement": "Skin rash", "dateAssigned": "2016-10-26T15:36:16.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158051" }, "publicationId": "PMID:19116920" }, "phenotypeStatement": "Arthritis", "dateAssigned": "2016-10-26T15:36:17.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158051" }, "publicationId": "PMID:19116920" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2016-10-26T15:36:17.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9585650" }, "publicationId": "PMID:21654732" }, "phenotypeStatement": "Abnormal electroretinogram", "dateAssigned": "2018-05-21T14:53:07.000-05:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40822814" }, "publicationId": "PMID:25580520" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-03T14:15:57.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002527", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13605619" }, "publicationId": "PMID:25802879" }, "phenotypeStatement": "Falls", "dateAssigned": "2018-06-11T15:14:12.000-05:00", "objectId": "HGNC:10809" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13605619" }, "publicationId": "PMID:25802879" }, "phenotypeStatement": "Muscle weakness", "dateAssigned": "2018-06-11T15:14:12.000-05:00", "objectId": "HGNC:10809" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008981", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13605619" }, "publicationId": "PMID:25802879" }, "phenotypeStatement": "Calf muscle hypertrophy", "dateAssigned": "2018-06-11T15:14:12.000-05:00", "objectId": "HGNC:10809" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003691", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13605619" }, "publicationId": "PMID:25802879" }, "phenotypeStatement": "Scapular winging", "dateAssigned": "2018-06-11T15:14:12.000-05:00", "objectId": "HGNC:10809" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600471" }, "publicationId": "PMID:16474404" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2016-05-20T13:53:35.000-05:00", "objectId": "HGNC:6407" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002064", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13434921" }, "publicationId": "PMID:26026163" }, "phenotypeStatement": "Spastic gait", "dateAssigned": "2017-10-09T11:00:41.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13434921" }, "publicationId": "PMID:26026163" }, "phenotypeStatement": "Hyperreflexia", "dateAssigned": "2017-10-09T11:00:41.000-05:00", "objectId": "HGNC:9722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200039", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829779" }, "publicationId": "PMID:22705603" }, "phenotypeStatement": "Pustule", "dateAssigned": "2016-05-20T15:51:25.000-05:00", "objectId": "HGNC:6015" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010930", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450505" }, "publicationId": "PMID:16227998" }, "phenotypeStatement": "Abnormal blood monovalent inorganic cation concentration", "dateAssigned": "2018-08-08T15:54:26.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002748", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450480" }, "publicationId": "PMID:22919024" }, "phenotypeStatement": "Rickets", "dateAssigned": "2018-08-01T12:47:11.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011423", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450480" }, "publicationId": "PMID:22919024" }, "phenotypeStatement": "Hyperchloremia", "dateAssigned": "2018-08-01T12:47:11.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011446", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600471" }, "publicationId": "PMID:16474404" }, "phenotypeStatement": "Abnormality of mental function", "dateAssigned": "2016-05-20T13:49:15.000-05:00", "objectId": "HGNC:6407" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001507", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600471" }, "publicationId": "PMID:16474404" }, "phenotypeStatement": "Growth abnormality", "dateAssigned": "2016-05-20T13:49:15.000-05:00", "objectId": "HGNC:6407" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011821", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600471" }, "publicationId": "PMID:16474404" }, "phenotypeStatement": "Abnormal facial skeleton morphology", "dateAssigned": "2016-05-20T13:49:15.000-05:00", "objectId": "HGNC:6407" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150537039" }, "publicationId": "PMID:15800946" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2021-12-21T16:48:03.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030502", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9587805" }, "publicationId": "PMID:10220153" }, "phenotypeStatement": "Retinoschisis", "dateAssigned": "2019-06-20T17:41:32.000-05:00", "objectId": "HGNC:10457" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007984", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9587805" }, "publicationId": "PMID:10220153" }, "phenotypeStatement": "ERG: Reduced dark-adapted b-wave amplitude", "dateAssigned": "2019-06-20T17:41:32.000-05:00", "objectId": "HGNC:10457" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001417", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9587805" }, "publicationId": "PMID:10220153" }, "phenotypeStatement": "X-linked inheritance", "dateAssigned": "2019-06-20T17:41:32.000-05:00", "objectId": "HGNC:10457" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005918", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12437083" }, "publicationId": "PMID:23812741" }, "phenotypeStatement": "Abnormal finger phalanx morphology", "dateAssigned": "2017-01-27T13:28:45.000-06:00", "objectId": "HGNC:4220" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007803", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9068452" }, "publicationId": "PMID:18521937" }, "phenotypeStatement": "Monochromacy", "dateAssigned": "2016-05-20T15:36:22.000-05:00", "objectId": "HGNC:2150" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032235", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147809" }, "publicationId": "PMID:11555411" }, "phenotypeStatement": "Anti-La/SS-B antibody positivity", "dateAssigned": "2019-09-17T15:16:20.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6892707" }, "publicationId": "PMID:22190368" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T15:33:34.000-05:00", "objectId": "HGNC:483" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012121", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364844" }, "publicationId": "PMID:21357402" }, "phenotypeStatement": "Panuveitis", "dateAssigned": "2019-08-06T16:30:19.000-05:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011985", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11568452" }, "publicationId": "PMID:27319779" }, "phenotypeStatement": "Acholic stools", "dateAssigned": "2017-09-19T12:57:08.000-05:00", "objectId": "HGNC:18141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581132" }, "publicationId": "PMID:15342699" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2017-09-19T16:58:48.000-05:00", "objectId": "HGNC:2488" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588532" }, "publicationId": "PMID:24069348" }, "phenotypeStatement": "Restricted chest movement", "dateAssigned": "2018-06-11T17:46:46.000-05:00", "objectId": "HGNC:9886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003419", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588532" }, "publicationId": "PMID:24069348" }, "phenotypeStatement": "Low back pain", "dateAssigned": "2018-06-11T17:46:46.000-05:00", "objectId": "HGNC:9886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147646" }, "publicationId": "PMID:16254435" }, "phenotypeStatement": "Autoimmune antibody positivity", "dateAssigned": "2019-02-27T11:13:11.000-06:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000820", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147646" }, "publicationId": "PMID:16254435" }, "phenotypeStatement": "Abnormality of the thyroid gland", "dateAssigned": "2019-02-27T11:13:11.000-06:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1582300" }, "publicationId": "PMID:12412731" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2017-09-19T17:36:38.000-05:00", "objectId": "HGNC:6137" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530623" }, "publicationId": "PMID:26770441" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2021-12-15T14:45:45.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599152" }, "publicationId": "PMID:17030669" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2017-09-22T12:16:39.000-05:00", "objectId": "HGNC:19139" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012443", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599152" }, "publicationId": "PMID:17030669" }, "phenotypeStatement": "Abnormal brain morphology", "dateAssigned": "2017-09-22T12:16:39.000-05:00", "objectId": "HGNC:19139" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003011", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599152" }, "publicationId": "PMID:17030669" }, "phenotypeStatement": "Abnormality of the musculature", "dateAssigned": "2017-09-22T12:16:39.000-05:00", "objectId": "HGNC:19139" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001433", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600451" }, "publicationId": "PMID:14622600" }, "phenotypeStatement": "Hepatosplenomegaly", "dateAssigned": "2017-09-22T13:27:03.000-05:00", "objectId": "HGNC:23147" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001876", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600451" }, "publicationId": "PMID:14622600" }, "phenotypeStatement": "Pancytopenia", "dateAssigned": "2017-09-22T13:27:03.000-05:00", "objectId": "HGNC:23147" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001410", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600451" }, "publicationId": "PMID:14622600" }, "phenotypeStatement": "Decreased liver function", "dateAssigned": "2017-09-22T13:27:03.000-05:00", "objectId": "HGNC:23147" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829783" }, "publicationId": "PMID:11106834" }, "phenotypeStatement": "Preretinal hemorrhage", "dateAssigned": "2018-03-15T13:06:02.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829783" }, "publicationId": "PMID:11106834" }, "phenotypeStatement": "Vitreous hemorrhage", "dateAssigned": "2018-03-15T13:06:02.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030666", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829783" }, "publicationId": "PMID:11106834" }, "phenotypeStatement": "Retinal neovascularization", "dateAssigned": "2018-03-15T13:06:02.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829799" }, "publicationId": "PMID:9025006" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-03-15T15:17:24.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008609", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365038" }, "publicationId": "PMID:18560870" }, "phenotypeStatement": "Abnormal middle ear morphology", "dateAssigned": "2019-02-05T11:39:51.000-06:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601235" }, "publicationId": "PMID:15713714" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2017-09-22T14:33:56.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001981", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598736" }, "publicationId": "PMID:11586351" }, "phenotypeStatement": "Schistocytosis", "dateAssigned": "2017-09-22T10:46:12.000-05:00", "objectId": "HGNC:1366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002199", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598943" }, "publicationId": "PMID:1302009" }, "phenotypeStatement": "Hypocalcemic seizures", "dateAssigned": "2017-09-22T11:19:54.000-05:00", "objectId": "HGNC:9606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598943" }, "publicationId": "PMID:1302009" }, "phenotypeStatement": "Abnormality of the parathyroid physiology", "dateAssigned": "2017-09-22T11:19:54.000-05:00", "objectId": "HGNC:9606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002149", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601235" }, "publicationId": "PMID:15713714" }, "phenotypeStatement": "Hyperuricemia", "dateAssigned": "2017-09-22T14:33:56.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598736" }, "publicationId": "PMID:11586351" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2017-09-22T10:46:12.000-05:00", "objectId": "HGNC:1366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001878", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1598736" }, "publicationId": "PMID:11586351" }, "phenotypeStatement": "Hemolytic anemia", "dateAssigned": "2017-09-22T10:46:12.000-05:00", "objectId": "HGNC:1366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450871" }, "publicationId": "PMID:21435719" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-27T17:56:38.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490167" }, "publicationId": "PMID:10720475" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T14:51:55.000-05:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100712", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588532" }, "publicationId": "PMID:24069348" }, "phenotypeStatement": "Abnormal lumbar spine morphology", "dateAssigned": "2018-06-11T17:46:46.000-05:00", "objectId": "HGNC:9886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003563", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401584" }, "publicationId": "PMID:7175379" }, "phenotypeStatement": "Decreased LDL cholesterol concentration", "dateAssigned": "2019-07-03T15:23:21.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38676480" }, "publicationId": "PMID:23571152" }, "phenotypeStatement": "Chronic hepatitis", "dateAssigned": "2020-09-21T16:25:32.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38676480" }, "publicationId": "PMID:23571152" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2020-09-21T16:25:32.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012378", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38676480" }, "publicationId": "PMID:23571152" }, "phenotypeStatement": "Fatigue", "dateAssigned": "2020-09-21T16:30:19.000-05:00", "objectId": "HGNC:6018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000790", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038920" }, "publicationId": "PMID:15315169" }, "phenotypeStatement": "Hematuria", "dateAssigned": "2019-04-03T16:13:55.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038920" }, "publicationId": "PMID:15315169" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2019-04-03T16:13:55.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11098288" }, "publicationId": "PMID:23948678" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2017-02-02T13:49:42.000-06:00", "objectId": "HGNC:5136" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002721", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925985" }, "publicationId": "PMID:31683054" }, "phenotypeStatement": "Immunodeficiency", "dateAssigned": "2021-06-01T09:48:33.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000399", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491386" }, "publicationId": "PMID:14635104" }, "phenotypeStatement": "Prelingual sensorineural hearing impairment", "dateAssigned": "2018-05-16T13:12:35.000-05:00", "objectId": "HGNC:8515" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008772", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11072411" }, "publicationId": "PMID:21155763" }, "phenotypeStatement": "Aplasia/Hypoplasia of the external ear", "dateAssigned": "2017-08-23T13:46:02.000-05:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126908008" }, "publicationId": "PMID:28806457" }, "phenotypeStatement": "Atypical behavior", "dateAssigned": "2021-05-07T10:28:01.000-05:00", "objectId": "HGNC:6231" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126908008" }, "publicationId": "PMID:28806457" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2021-05-07T10:26:36.000-05:00", "objectId": "HGNC:6231" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005202", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126928143" }, "publicationId": "PMID:15622476" }, "phenotypeStatement": "Helicobacter pylori infection", "dateAssigned": "2021-06-01T12:30:32.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126908007" }, "publicationId": "PMID:32954514" }, "phenotypeStatement": "Seizure", "dateAssigned": "2021-05-07T10:09:27.000-05:00", "objectId": "HGNC:6231" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126908007" }, "publicationId": "PMID:32954514" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2021-05-07T10:15:56.000-05:00", "objectId": "HGNC:6231" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126908008" }, "publicationId": "PMID:28806457" }, "phenotypeStatement": "Seizure", "dateAssigned": "2021-05-07T10:27:54.000-05:00", "objectId": "HGNC:6231" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5509070" }, "publicationId": "PMID:20921115" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-06-24T17:54:50.000-05:00", "objectId": "HGNC:391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008321", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041731" }, "publicationId": "PMID:22008904" }, "phenotypeStatement": "Reduced factor X activity", "dateAssigned": "2017-12-11T12:35:35.000-06:00", "objectId": "HGNC:3528" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003645", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041731" }, "publicationId": "PMID:22008904" }, "phenotypeStatement": "Prolonged partial thromboplastin time", "dateAssigned": "2017-12-11T12:35:35.000-06:00", "objectId": "HGNC:3528" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657393" }, "publicationId": "PMID:7487609" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-04-19T11:29:20.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657393" }, "publicationId": "PMID:7487609" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2018-04-19T11:29:20.000-05:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429976" }, "publicationId": "PMID:16061909" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2021-10-08T14:09:58.000-05:00", "objectId": "HGNC:3691" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126908007" }, "publicationId": "PMID:32954514" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2021-05-07T10:16:09.000-05:00", "objectId": "HGNC:6231" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011038", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248550" }, "publicationId": "PMID:18413491" }, "phenotypeStatement": "Abnormal renal tubular resorption", "dateAssigned": "2013-08-07T15:48:07.000-05:00", "objectId": "HGNC:3020" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012603", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248550" }, "publicationId": "PMID:18413491" }, "phenotypeStatement": "Abnormal urine sodium concentration", "dateAssigned": "2013-08-07T15:48:07.000-05:00", "objectId": "HGNC:3020" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002615", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248550" }, "publicationId": "PMID:18413491" }, "phenotypeStatement": "Hypotension", "dateAssigned": "2013-08-07T15:48:08.000-05:00", "objectId": "HGNC:3020" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902986" }, "publicationId": "PMID:25223483" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-06-01T10:05:34.000-05:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200134", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126908008" }, "publicationId": "PMID:28806457" }, "phenotypeStatement": "Epileptic encephalopathy", "dateAssigned": "2021-05-07T10:27:43.000-05:00", "objectId": "HGNC:6231" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004302", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126908008" }, "publicationId": "PMID:28806457" }, "phenotypeStatement": "Functional motor deficit", "dateAssigned": "2021-05-07T10:28:07.000-05:00", "objectId": "HGNC:6231" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020105", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126928144" }, "publicationId": "PMID:26856406" }, "phenotypeStatement": "Severe toxoplasmosis", "dateAssigned": "2021-06-01T12:32:37.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886274" }, "publicationId": "PMID:25724123" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2020-12-03T12:18:51.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032061", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886274" }, "publicationId": "PMID:25724123" }, "phenotypeStatement": "Severely increased total eosinophil count", "dateAssigned": "2020-12-03T12:18:51.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886274" }, "publicationId": "PMID:25724123" }, "phenotypeStatement": "Eczematoid dermatitis", "dateAssigned": "2020-12-03T12:18:51.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002090", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886274" }, "publicationId": "PMID:25724123" }, "phenotypeStatement": "Pneumonia", "dateAssigned": "2020-12-03T12:18:51.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100838", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886274" }, "publicationId": "PMID:25724123" }, "phenotypeStatement": "Recurrent cutaneous abscess formation", "dateAssigned": "2020-12-03T12:18:51.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661705" }, "publicationId": "PMID:18923236" }, "phenotypeStatement": "Atherosclerosis", "dateAssigned": "2018-04-19T15:45:24.000-05:00", "objectId": "HGNC:3176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626222" }, "publicationId": "PMID:9392003" }, "phenotypeStatement": "Increased adipose tissue", "dateAssigned": "2018-02-08T13:37:50.000-06:00", "objectId": "HGNC:6932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001159", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801488" }, "publicationId": "PMID:10735635" }, "phenotypeStatement": "Syndactyly", "dateAssigned": "2017-04-04T12:16:48.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008497", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801488" }, "publicationId": "PMID:10735635" }, "phenotypeStatement": "Congenital craniofacial dysostosis", "dateAssigned": "2017-04-04T12:16:48.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126908007" }, "publicationId": "PMID:32954514" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2021-05-07T10:15:28.000-05:00", "objectId": "HGNC:6231" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126908007" }, "publicationId": "PMID:32954514" }, "phenotypeStatement": "Atypical behavior", "dateAssigned": "2021-05-07T10:16:15.000-05:00", "objectId": "HGNC:6231" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005406", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340677" }, "publicationId": "PMID:31784499" }, "phenotypeStatement": "Recurrent bacterial skin infections", "dateAssigned": "2021-08-26T14:50:19.000-05:00", "objectId": "HGNC:6881" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401730" }, "publicationId": "PMID:10534150" }, "phenotypeStatement": "Increased total lymphocyte count", "dateAssigned": "2019-05-16T11:56:44.000-05:00", "objectId": "HGNC:1606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030965", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329412480" }, "publicationId": "PMID:24508110" }, "phenotypeStatement": "Aortic stiffness", "dateAssigned": "2023-05-18T11:46:48.000-05:00", "objectId": "HGNC:468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030965", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329412480" }, "publicationId": "PMID:24508110" }, "phenotypeStatement": "Aortic stiffness", "dateAssigned": "2023-05-18T12:16:04.000-05:00", "objectId": "HGNC:468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626222" }, "publicationId": "PMID:9392003" }, "phenotypeStatement": "Increased adipose tissue", "dateAssigned": "2018-02-08T13:37:50.000-06:00", "objectId": "HGNC:6933" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13506727" }, "publicationId": "PMID:23229155" }, "phenotypeStatement": "Hypoinsulinemia", "dateAssigned": "2018-02-08T14:18:37.000-06:00", "objectId": "HGNC:1391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158095" }, "publicationId": "PMID:19879020" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2019-02-14T13:47:19.000-06:00", "objectId": "HGNC:6893" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000635", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491818" }, "publicationId": "PMID:19710684" }, "phenotypeStatement": "Blue irides", "dateAssigned": "2018-05-16T13:36:01.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000399", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9479153" }, "publicationId": "PMID:10192385" }, "phenotypeStatement": "Prelingual sensorineural hearing impairment", "dateAssigned": "2018-05-15T15:21:28.000-05:00", "objectId": "HGNC:8515" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000399", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9479157" }, "publicationId": "PMID:16097006" }, "phenotypeStatement": "Prelingual sensorineural hearing impairment", "dateAssigned": "2018-05-15T17:37:56.000-05:00", "objectId": "HGNC:8515" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012200", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041731" }, "publicationId": "PMID:22008904" }, "phenotypeStatement": "Abnormality of prothrombin", "dateAssigned": "2017-12-11T12:35:35.000-06:00", "objectId": "HGNC:3528" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004841", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041772" }, "publicationId": "PMID:20386432" }, "phenotypeStatement": "Reduced factor XII activity", "dateAssigned": "2017-12-11T11:20:32.000-06:00", "objectId": "HGNC:3530" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001929", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041742" }, "publicationId": "PMID:10706758" }, "phenotypeStatement": "Reduced factor XI activity", "dateAssigned": "2017-12-11T11:31:37.000-06:00", "objectId": "HGNC:3529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800704" }, "publicationId": "PMID:17306754" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-12-07T13:41:42.000-06:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000575", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800704" }, "publicationId": "PMID:17306754" }, "phenotypeStatement": "Scotoma", "dateAssigned": "2018-12-07T13:41:42.000-06:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007641", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800704" }, "publicationId": "PMID:17306754" }, "phenotypeStatement": "Dyschromatopsia", "dateAssigned": "2018-12-07T13:41:42.000-06:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025109", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535979" }, "publicationId": "PMID:7949104" }, "phenotypeStatement": "Reduced red cell pyruvate kinase level", "dateAssigned": "2017-02-13T12:38:34.000-06:00", "objectId": "HGNC:9020" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025109", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535983" }, "publicationId": "PMID:8161798" }, "phenotypeStatement": "Reduced red cell pyruvate kinase level", "dateAssigned": "2017-02-13T12:39:49.000-06:00", "objectId": "HGNC:9020" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031973", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329849125" }, "publicationId": "PMID:22058429" }, "phenotypeStatement": "Increased vertical cup-to-disc ratio", "dateAssigned": "2023-06-13T16:15:40.000-05:00", "objectId": "HGNC:9965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329849125" }, "publicationId": "PMID:22058429" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2023-06-13T16:15:40.000-05:00", "objectId": "HGNC:9965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329849125" }, "publicationId": "PMID:22058429" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2023-06-13T16:15:40.000-05:00", "objectId": "HGNC:9965" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001159", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801413" }, "publicationId": "PMID:9677057" }, "phenotypeStatement": "Syndactyly", "dateAssigned": "2017-03-29T16:55:50.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011329", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801413" }, "publicationId": "PMID:9677057" }, "phenotypeStatement": "Abnormality of cranial sutures", "dateAssigned": "2017-03-29T16:55:50.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030153", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429786" }, "publicationId": "PMID:33014052" }, "phenotypeStatement": "Cholangiocarcinoma", "dateAssigned": "2021-09-29T08:33:18.000-05:00", "objectId": "HGNC:6693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100575", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429787" }, "publicationId": "PMID:32898339" }, "phenotypeStatement": "Neoplasm of the gallbladder", "dateAssigned": "2021-09-29T08:44:36.000-05:00", "objectId": "HGNC:6693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002715", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907356" }, "publicationId": "PMID:17176440" }, "phenotypeStatement": "Abnormality of the immune system", "dateAssigned": "2017-12-20T16:17:17.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001899", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039391" }, "publicationId": "PMID:22467227" }, "phenotypeStatement": "Increased hematocrit", "dateAssigned": "2020-01-17T13:28:07.000-06:00", "objectId": "HGNC:6192" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001900", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039391" }, "publicationId": "PMID:22467227" }, "phenotypeStatement": "Increased circulating hemoglobin concentration", "dateAssigned": "2020-01-17T13:29:40.000-06:00", "objectId": "HGNC:6192" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907356" }, "publicationId": "PMID:17176440" }, "phenotypeStatement": "Arthritis", "dateAssigned": "2017-12-20T16:17:17.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003493", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907356" }, "publicationId": "PMID:17176440" }, "phenotypeStatement": "Antinuclear antibody positivity", "dateAssigned": "2017-12-20T16:17:17.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004297", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11568452" }, "publicationId": "PMID:27319779" }, "phenotypeStatement": "Abnormality of the biliary system", "dateAssigned": "2017-06-30T16:23:22.000-05:00", "objectId": "HGNC:18141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001132", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910482" }, "publicationId": "PMID:23592911" }, "phenotypeStatement": "Lens subluxation", "dateAssigned": "2017-06-15T12:45:46.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907370" }, "publicationId": "PMID:16766392" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2017-12-20T17:08:10.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907370" }, "publicationId": "PMID:16766392" }, "phenotypeStatement": "Elevated circulating creatinine concentration", "dateAssigned": "2017-12-20T17:08:10.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100651", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340607" }, "publicationId": "PMID:16552513" }, "phenotypeStatement": "Type I diabetes mellitus", "dateAssigned": "2021-08-18T14:50:27.000-05:00", "objectId": "HGNC:6081" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000556", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552697" }, "publicationId": "PMID:20956273" }, "phenotypeStatement": "Retinal dystrophy", "dateAssigned": "2019-04-17T10:32:59.000-05:00", "objectId": "HGNC:2343" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910947" }, "publicationId": "PMID:24039113" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "2017-06-29T10:16:29.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910947" }, "publicationId": "PMID:24039113" }, "phenotypeStatement": "Language impairment", "dateAssigned": "2017-06-29T10:16:29.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910947" }, "publicationId": "PMID:24039113" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2017-06-29T10:16:29.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001629", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12743641" }, "publicationId": "PMID:22503907" }, "phenotypeStatement": "Ventricular septal defect", "dateAssigned": "2017-02-13T16:10:34.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002623", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12743641" }, "publicationId": "PMID:22503907" }, "phenotypeStatement": "Overriding aorta", "dateAssigned": "2017-02-13T16:10:34.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001642", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12743641" }, "publicationId": "PMID:22503907" }, "phenotypeStatement": "Pulmonic stenosis", "dateAssigned": "2017-02-13T16:10:34.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001667", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12743641" }, "publicationId": "PMID:22503907" }, "phenotypeStatement": "Right ventricular hypertrophy", "dateAssigned": "2017-02-13T16:10:34.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2316628" }, "publicationId": "PMID:19965390" }, "phenotypeStatement": "Impaired glucose tolerance", "dateAssigned": "2020-02-25T16:14:32.000-06:00", "objectId": "HGNC:281" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008151", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11049524" }, "publicationId": "PMID:26083983" }, "phenotypeStatement": "Prolonged prothrombin time", "dateAssigned": "2018-08-15T16:45:38.000-05:00", "objectId": "HGNC:3544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025109", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535981" }, "publicationId": "PMID:1536957" }, "phenotypeStatement": "Reduced red cell pyruvate kinase level", "dateAssigned": "2017-02-13T12:41:01.000-06:00", "objectId": "HGNC:9020" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581292" }, "publicationId": "PMID:11992261" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "2017-02-13T15:06:14.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581292" }, "publicationId": "PMID:11992261" }, "phenotypeStatement": "Short stature", "dateAssigned": "2017-02-13T15:06:14.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000766", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581292" }, "publicationId": "PMID:11992261" }, "phenotypeStatement": "Abnormal sternum morphology", "dateAssigned": "2017-02-13T15:06:14.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581292" }, "publicationId": "PMID:11992261" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2017-02-13T15:06:14.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13605620" }, "publicationId": "PMID:28123479" }, "phenotypeStatement": "Decreased body weight", "dateAssigned": "2018-06-11T15:44:03.000-05:00", "objectId": "HGNC:10809" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003146", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13605620" }, "publicationId": "PMID:28123479" }, "phenotypeStatement": "Hypocholesterolemia", "dateAssigned": "2018-06-11T15:44:03.000-05:00", "objectId": "HGNC:10809" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13605620" }, "publicationId": "PMID:28123479" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2018-06-11T15:44:03.000-05:00", "objectId": "HGNC:10809" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6770890" }, "publicationId": "PMID:21595933" }, "phenotypeStatement": "Chorea", "dateAssigned": "2017-12-11T12:41:53.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6770890" }, "publicationId": "PMID:21595933" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2017-12-11T12:41:53.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553909" }, "publicationId": "PMID:22987818" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2016-10-17T15:36:29.000-05:00", "objectId": "HGNC:29250" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002894", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552283" }, "publicationId": "PMID:16397522" }, "phenotypeStatement": "Neoplasm of the pancreas", "dateAssigned": "2019-08-06T16:59:58.000-05:00", "objectId": "HGNC:1787" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002894", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552383" }, "publicationId": "PMID:10922411" }, "phenotypeStatement": "Neoplasm of the pancreas", "dateAssigned": "2019-08-06T17:05:35.000-05:00", "objectId": "HGNC:1787" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000362", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8157627" }, "publicationId": "PMID:23639864" }, "phenotypeStatement": "Otosclerosis", "dateAssigned": "2019-08-06T17:23:37.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002758", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10003113" }, "publicationId": "PMID:23740230" }, "phenotypeStatement": "Osteoarthritis", "dateAssigned": "2019-08-08T12:25:25.000-05:00", "objectId": "HGNC:4263" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147916" }, "publicationId": "PMID:21719445" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2019-08-08T13:10:17.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548512" }, "publicationId": "PMID:19960070" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2019-05-08T12:05:58.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007722", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548512" }, "publicationId": "PMID:19960070" }, "phenotypeStatement": "Retinal pigment epithelial atrophy", "dateAssigned": "2019-05-08T12:05:58.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007994", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548512" }, "publicationId": "PMID:19960070" }, "phenotypeStatement": "Peripheral visual field loss", "dateAssigned": "2019-05-08T12:05:58.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548512" }, "publicationId": "PMID:19960070" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2019-05-08T12:05:58.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548512" }, "publicationId": "PMID:19960070" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2019-05-08T12:05:58.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003457", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147612" }, "publicationId": "PMID:19561379" }, "phenotypeStatement": "EMG abnormality", "dateAssigned": "2018-10-12T15:55:15.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007052", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11250416" }, "publicationId": "PMID:21172841" }, "phenotypeStatement": "Multifocal cerebral white matter abnormalities", "dateAssigned": "2016-06-15T17:05:45.000-05:00", "objectId": "HGNC:9456" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003457", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147612" }, "publicationId": "PMID:19561379" }, "phenotypeStatement": "EMG abnormality", "dateAssigned": "2018-10-12T14:49:05.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11667067" }, "publicationId": "PMID:21667357" }, "phenotypeStatement": "Blue sclerae", "dateAssigned": "2017-01-13T12:21:08.000-06:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002037", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6909136" }, "publicationId": "PMID:8119534" }, "phenotypeStatement": "Inflammation of the large intestine", "dateAssigned": "2017-12-21T16:53:54.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000790", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6909151" }, "publicationId": "PMID:9186886" }, "phenotypeStatement": "Hematuria", "dateAssigned": "2017-12-21T17:43:40.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6909151" }, "publicationId": "PMID:9186886" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2017-12-21T17:43:40.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12832753" }, "publicationId": "PMID:9354433" }, "phenotypeStatement": "Abnormal endometrium morphology", "dateAssigned": "2017-04-12T16:37:32.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6909137" }, "publicationId": "PMID:8077705" }, "phenotypeStatement": "Acquired abnormal hair pattern", "dateAssigned": "2017-12-21T16:26:53.000-06:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601571" }, "publicationId": "PMID:12058348" }, "phenotypeStatement": "Multiple lentigines", "dateAssigned": "2017-02-10T15:34:58.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007565", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601571" }, "publicationId": "PMID:12058348" }, "phenotypeStatement": "Multiple cafe-au-lait spots", "dateAssigned": "2017-02-10T15:34:58.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601571" }, "publicationId": "PMID:12058348" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2017-02-10T15:34:58.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000820", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12832747" }, "publicationId": "PMID:10793080" }, "phenotypeStatement": "Abnormality of the thyroid gland", "dateAssigned": "2017-04-12T16:17:33.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12832745" }, "publicationId": "PMID:9458098" }, "phenotypeStatement": "Abnormal respiratory system morphology", "dateAssigned": "2017-04-12T16:35:05.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002011", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801495" }, "publicationId": "PMID:9090379" }, "phenotypeStatement": "Morphological central nervous system abnormality", "dateAssigned": "2017-04-12T16:42:54.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000769", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12859037" }, "publicationId": "PMID:15287024" }, "phenotypeStatement": "Abnormality of the breast", "dateAssigned": "2017-04-12T16:29:51.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000988", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552576" }, "publicationId": "PMID:19967651" }, "phenotypeStatement": "Skin rash", "dateAssigned": "2016-10-12T16:57:42.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001911", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552576" }, "publicationId": "PMID:19967651" }, "phenotypeStatement": "Abnormal granulocyte morphology", "dateAssigned": "2016-10-12T16:57:42.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552576" }, "publicationId": "PMID:19967651" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2016-10-12T16:57:42.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001103", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7387322" }, "publicationId": "PMID:22800422" }, "phenotypeStatement": "Abnormal macular morphology", "dateAssigned": "2018-02-07T13:22:54.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000769", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12832752" }, "publicationId": "PMID:9345101" }, "phenotypeStatement": "Abnormality of the breast", "dateAssigned": "2017-04-12T16:30:55.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2292515" }, "publicationId": "PMID:9671402" }, "phenotypeStatement": "Abnormality of the bladder", "dateAssigned": "2017-04-12T16:19:14.000-05:00", "objectId": "HGNC:9588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394721" }, "publicationId": "PMID:18436811" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-02-08T14:38:59.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100754", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588521" }, "publicationId": "PMID:24444492" }, "phenotypeStatement": "Mania", "dateAssigned": "2016-10-13T10:24:23.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032271", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126928140" }, "publicationId": "PMID:29795056" }, "phenotypeStatement": "Extrapulmonary tuberculosis", "dateAssigned": "2021-06-01T12:26:53.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006279", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405650683" }, "publicationId": "PMID:23776430" }, "phenotypeStatement": "Beta-cell dysfunction", "dateAssigned": "2024-05-02T15:47:27.000-05:00", "objectId": "HGNC:5381" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405650683" }, "publicationId": "PMID:23776430" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2024-05-02T15:47:27.000-05:00", "objectId": "HGNC:5381" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394713" }, "publicationId": "PMID:19933195" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-02-07T16:18:10.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011118", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626400" }, "publicationId": "PMID:14981227" }, "phenotypeStatement": "Abnormality of tumor necrosis factor secretion", "dateAssigned": "2018-02-08T15:38:35.000-06:00", "objectId": "HGNC:3556" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394722" }, "publicationId": "PMID:18207215" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-02-08T15:50:35.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147646" }, "publicationId": "PMID:16254435" }, "phenotypeStatement": "Autoimmune antibody positivity", "dateAssigned": "2019-02-27T12:03:14.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000820", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147646" }, "publicationId": "PMID:16254435" }, "phenotypeStatement": "Abnormality of the thyroid gland", "dateAssigned": "2019-02-27T12:03:14.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100651", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147565" }, "publicationId": "PMID:21388354" }, "phenotypeStatement": "Type I diabetes mellitus", "dateAssigned": "2019-02-27T12:38:28.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540340" }, "publicationId": "PMID:22524842" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-01-07T09:35:36.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530625" }, "publicationId": "PMID:23604281" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2021-12-15T17:35:15.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003306", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599352" }, "publicationId": "PMID:11528383" }, "phenotypeStatement": "Spinal rigidity", "dateAssigned": "2017-09-22T12:42:05.000-05:00", "objectId": "HGNC:15999" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599352" }, "publicationId": "PMID:11528383" }, "phenotypeStatement": "Respiratory insufficiency", "dateAssigned": "2017-09-22T12:42:05.000-05:00", "objectId": "HGNC:15999" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600451" }, "publicationId": "PMID:14622600" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2017-09-22T13:29:16.000-05:00", "objectId": "HGNC:23147" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011900", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600451" }, "publicationId": "PMID:14622600" }, "phenotypeStatement": "Hypofibrinogenemia", "dateAssigned": "2017-09-22T13:29:16.000-05:00", "objectId": "HGNC:23147" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100630", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530619" }, "publicationId": "PMID:29108254" }, "phenotypeStatement": "Neoplasia of the nasopharynx", "dateAssigned": "2021-12-15T12:39:55.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530505" }, "publicationId": "PMID:28356949" }, "phenotypeStatement": "Esophageal carcinoma", "dateAssigned": "2021-12-14T17:08:52.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599921" }, "publicationId": "PMID:14961451" }, "phenotypeStatement": "Generalized hypopigmentation", "dateAssigned": "2017-09-22T13:06:54.000-05:00", "objectId": "HGNC:16472" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530503" }, "publicationId": "PMID:28927037" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-12-14T17:00:35.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158106" }, "publicationId": "PMID:18785640" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2019-02-14T15:52:00.000-06:00", "objectId": "HGNC:6893" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482733" }, "publicationId": "PMID:20938027" }, "phenotypeStatement": "Dementia", "dateAssigned": "2019-02-14T17:54:45.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006892", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482733" }, "publicationId": "PMID:20938027" }, "phenotypeStatement": "Frontotemporal cerebral atrophy", "dateAssigned": "2019-02-14T17:54:45.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001288", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482733" }, "publicationId": "PMID:20938027" }, "phenotypeStatement": "Gait disturbance", "dateAssigned": "2019-02-14T17:54:45.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508427" }, "publicationId": "PMID:20528910" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T14:32:26.000-05:00", "objectId": "HGNC:4177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000388", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365038" }, "publicationId": "PMID:18560870" }, "phenotypeStatement": "Otitis media", "dateAssigned": "2019-08-06T17:47:14.000-05:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002756", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11667067" }, "publicationId": "PMID:21667357" }, "phenotypeStatement": "Pathologic fracture", "dateAssigned": "2017-01-13T13:24:20.000-06:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002904", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429696" }, "publicationId": "PMID:9425227" }, "phenotypeStatement": "Hyperbilirubinemia", "dateAssigned": "2021-09-16T14:33:52.000-05:00", "objectId": "HGNC:53" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100033", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13209010" }, "publicationId": "PMID:25258183" }, "phenotypeStatement": "Tics", "dateAssigned": "2017-08-28T16:39:28.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002756", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11667067" }, "publicationId": "PMID:21667357" }, "phenotypeStatement": "Pathologic fracture", "dateAssigned": "2017-01-13T13:24:20.000-06:00", "objectId": "HGNC:2198" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508409" }, "publicationId": "PMID:21159540" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T13:27:58.000-05:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508408" }, "publicationId": "PMID:21167764" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T13:30:39.000-05:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508404" }, "publicationId": "PMID:21954089" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T13:53:31.000-05:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003199", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045568" }, "publicationId": "PMID:24815842" }, "phenotypeStatement": "Decreased muscle mass", "dateAssigned": "2019-06-24T16:44:42.000-05:00", "objectId": "HGNC:1527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045568" }, "publicationId": "PMID:24815842" }, "phenotypeStatement": "Muscle weakness", "dateAssigned": "2019-06-24T16:44:42.000-05:00", "objectId": "HGNC:1527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0045082", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045568" }, "publicationId": "PMID:24815842" }, "phenotypeStatement": "Decreased body mass index", "dateAssigned": "2019-06-24T16:44:42.000-05:00", "objectId": "HGNC:1527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7243977" }, "publicationId": "PMID:18273035" }, "phenotypeStatement": "Unusual helminthic infection", "dateAssigned": "2019-06-24T17:18:06.000-05:00", "objectId": "HGNC:11368" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5509071" }, "publicationId": "PMID:20214684" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-06-24T18:06:05.000-05:00", "objectId": "HGNC:391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100754", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490261" }, "publicationId": "PMID:15533721" }, "phenotypeStatement": "Mania", "dateAssigned": "2016-10-13T10:22:16.000-05:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001274", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068757" }, "publicationId": "PMID:21552264" }, "phenotypeStatement": "Agenesis of corpus callosum", "dateAssigned": "2016-10-13T16:13:12.000-05:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010442", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068757" }, "publicationId": "PMID:21552264" }, "phenotypeStatement": "Polydactyly", "dateAssigned": "2016-10-13T16:13:12.000-05:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429696" }, "publicationId": "PMID:9425227" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2021-09-16T14:33:52.000-05:00", "objectId": "HGNC:53" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002758", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6771189" }, "publicationId": "PMID:18790654" }, "phenotypeStatement": "Osteoarthritis", "dateAssigned": "2019-08-08T13:03:57.000-05:00", "objectId": "HGNC:14899" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025318", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893445" }, "publicationId": "PMID:20103664" }, "phenotypeStatement": "Ovarian carcinoma", "dateAssigned": "2019-08-06T17:19:24.000-05:00", "objectId": "HGNC:1604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429822" }, "publicationId": "PMID:20554746" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2021-10-01T13:50:36.000-05:00", "objectId": "HGNC:6844" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100651", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340611" }, "publicationId": "PMID:17284223" }, "phenotypeStatement": "Type I diabetes mellitus", "dateAssigned": "2021-08-18T15:03:49.000-05:00", "objectId": "HGNC:6081" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490292" }, "publicationId": "PMID:12618962" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T12:40:57.000-05:00", "objectId": "HGNC:7414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508422" }, "publicationId": "PMID:21242499" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T14:36:29.000-05:00", "objectId": "HGNC:4177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11667070" }, "publicationId": "PMID:22589248" }, "phenotypeStatement": "Tricuspid regurgitation", "dateAssigned": "2017-01-13T14:31:09.000-06:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001943", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12790587" }, "publicationId": "PMID:24401662" }, "phenotypeStatement": "Hypoglycemia", "dateAssigned": "2017-02-16T10:57:19.000-06:00", "objectId": "HGNC:59" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553058" }, "publicationId": "PMID:19032828" }, "phenotypeStatement": "Scleroderma", "dateAssigned": "2019-07-31T10:05:56.000-05:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001943", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12790587" }, "publicationId": "PMID:24401662" }, "phenotypeStatement": "Hypoglycemia", "dateAssigned": "2017-02-16T10:57:00.000-06:00", "objectId": "HGNC:6257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508425" }, "publicationId": "PMID:20947659" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T14:34:49.000-05:00", "objectId": "HGNC:4177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000362", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548860" }, "publicationId": "PMID:18491423" }, "phenotypeStatement": "Otosclerosis", "dateAssigned": "2019-08-06T17:33:24.000-05:00", "objectId": "HGNC:333" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000388", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365054" }, "publicationId": "PMID:17908769" }, "phenotypeStatement": "Otitis media", "dateAssigned": "2019-08-06T17:45:35.000-05:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401586" }, "publicationId": "PMID:25851350" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-07-03T17:26:22.000-05:00", "objectId": "HGNC:1582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000953", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251732" }, "publicationId": "PMID:23946118" }, "phenotypeStatement": "Hyperpigmentation of the skin", "dateAssigned": "2016-06-20T16:49:34.000-05:00", "objectId": "HGNC:2890" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008404", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251732" }, "publicationId": "PMID:23946118" }, "phenotypeStatement": "Nail dystrophy", "dateAssigned": "2016-06-20T16:49:34.000-05:00", "objectId": "HGNC:2890" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001597", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251732" }, "publicationId": "PMID:23946118" }, "phenotypeStatement": "Abnormal nail morphology", "dateAssigned": "2016-06-20T16:49:34.000-05:00", "objectId": "HGNC:2890" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251733" }, "publicationId": "PMID:26360549" }, "phenotypeStatement": "Abnormal hemoglobin", "dateAssigned": "2016-06-20T17:12:00.000-05:00", "objectId": "HGNC:2890" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251733" }, "publicationId": "PMID:26360549" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2016-06-20T17:12:00.000-05:00", "objectId": "HGNC:2890" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002862", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530493" }, "publicationId": "PMID:18272472" }, "phenotypeStatement": "Bladder carcinoma", "dateAssigned": "2021-12-14T11:23:09.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910950" }, "publicationId": "PMID:27312080" }, "phenotypeStatement": "Language impairment", "dateAssigned": "2017-06-29T13:41:22.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910950" }, "publicationId": "PMID:27312080" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2017-06-29T13:41:22.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011220", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910950" }, "publicationId": "PMID:27312080" }, "phenotypeStatement": "Prominent forehead", "dateAssigned": "2017-06-29T13:41:22.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910950" }, "publicationId": "PMID:27312080" }, "phenotypeStatement": "Atypical behavior", "dateAssigned": "2017-06-29T13:41:22.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530624" }, "publicationId": "PMID:24446299" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-12-15T15:41:39.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158095" }, "publicationId": "PMID:19879020" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T13:22:05.000-05:00", "objectId": "HGNC:6893" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000388", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491764" }, "publicationId": "PMID:24718616" }, "phenotypeStatement": "Otitis media", "dateAssigned": "2019-08-06T17:51:09.000-05:00", "objectId": "HGNC:2558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10401929" }, "publicationId": "PMID:24593045" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-08-07T13:17:02.000-05:00", "objectId": "HGNC:4638" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040088", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251733" }, "publicationId": "PMID:26360549" }, "phenotypeStatement": "Abnormal lymphocyte count", "dateAssigned": "2016-06-20T17:12:00.000-05:00", "objectId": "HGNC:2890" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011991", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251733" }, "publicationId": "PMID:26360549" }, "phenotypeStatement": "Abnormal total neutrophil count", "dateAssigned": "2016-06-20T17:12:00.000-05:00", "objectId": "HGNC:2890" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661662" }, "publicationId": "PMID:19358249" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2018-04-19T13:34:38.000-05:00", "objectId": "HGNC:3176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004312", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251706" }, "publicationId": "PMID:11372755" }, "phenotypeStatement": "Abnormal reticulocyte morphology", "dateAssigned": "2016-06-17T13:06:28.000-05:00", "objectId": "HGNC:492" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694092" }, "publicationId": "PMID:20399928" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-04-25T13:20:09.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694092" }, "publicationId": "PMID:20399928" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-04-25T13:20:09.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694092" }, "publicationId": "PMID:20399928" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-04-25T13:20:09.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001881", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252110" }, "publicationId": "PMID:21983886" }, "phenotypeStatement": "Abnormal leukocyte morphology", "dateAssigned": "2016-06-24T16:48:16.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010829", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147648" }, "publicationId": "PMID:16053028" }, "phenotypeStatement": "Impaired temperature sensation", "dateAssigned": "2019-07-09T16:37:19.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5130731" }, "publicationId": "PMID:20085599" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2016-06-23T15:03:38.000-05:00", "objectId": "HGNC:11850" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200122", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285539" }, "publicationId": "PMID:29879024" }, "phenotypeStatement": "Atypical or prolonged hepatitis", "dateAssigned": "2021-06-22T08:36:05.000-05:00", "objectId": "HGNC:6005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158096" }, "publicationId": "PMID:18162161" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T13:09:03.000-05:00", "objectId": "HGNC:6893" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508405" }, "publicationId": "PMID:21796139" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T13:51:41.000-05:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508399" }, "publicationId": "PMID:21989859" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T13:56:36.000-05:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490158" }, "publicationId": "PMID:20711177" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T14:07:28.000-05:00", "objectId": "HGNC:4947" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5509800" }, "publicationId": "PMID:20127884" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T15:30:09.000-05:00", "objectId": "HGNC:1515" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5509076" }, "publicationId": "PMID:18395980" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-06T15:37:27.000-05:00", "objectId": "HGNC:391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030372", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251730" }, "publicationId": "PMID:26476407" }, "phenotypeStatement": "Decreased naive B cell proportion", "dateAssigned": "2016-06-20T13:08:21.000-05:00", "objectId": "HGNC:17642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011839", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251730" }, "publicationId": "PMID:26476407" }, "phenotypeStatement": "Abnormal total T cell count", "dateAssigned": "2016-06-20T13:08:21.000-05:00", "objectId": "HGNC:17642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000550", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548512" }, "publicationId": "PMID:19960070" }, "phenotypeStatement": "Undetectable electroretinogram", "dateAssigned": "2019-05-08T12:05:58.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004433", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251730" }, "publicationId": "PMID:26476407" }, "phenotypeStatement": "Secretory IgA deficiency", "dateAssigned": "2016-06-20T13:08:21.000-05:00", "objectId": "HGNC:17642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530503" }, "publicationId": "PMID:28927037" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-12-14T17:03:51.000-06:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002754", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041747" }, "publicationId": "PMID:18312480" }, "phenotypeStatement": "Osteomyelitis", "dateAssigned": "2019-08-07T16:54:59.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11354913" }, "publicationId": "PMID:14581138" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2016-07-28T19:02:32.000-05:00", "objectId": "HGNC:6016" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530630" }, "publicationId": "PMID:27706710" }, "phenotypeStatement": "Neoplasm of the stomach", "dateAssigned": "2021-12-16T17:02:30.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001771", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791020" }, "publicationId": "PMID:10080180" }, "phenotypeStatement": "Achilles tendon contracture", "dateAssigned": "2017-02-28T09:53:00.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002987", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791020" }, "publicationId": "PMID:10080180" }, "phenotypeStatement": "Elbow flexion contracture", "dateAssigned": "2017-02-28T09:53:00.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003202", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791020" }, "publicationId": "PMID:10080180" }, "phenotypeStatement": "Skeletal muscle atrophy", "dateAssigned": "2017-02-28T09:53:00.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012722", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791020" }, "publicationId": "PMID:10080180" }, "phenotypeStatement": "Heart block", "dateAssigned": "2017-02-28T09:53:00.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11353313" }, "publicationId": "PMID:26434847" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2021-12-15T16:18:37.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11565126" }, "publicationId": "PMID:15654694" }, "phenotypeStatement": "High palate", "dateAssigned": "2016-11-21T15:14:47.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005404", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11100033" }, "publicationId": "PMID:23129749" }, "phenotypeStatement": "Increased total B cell count", "dateAssigned": "2016-06-14T15:11:17.000-05:00", "objectId": "HGNC:16393" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001744", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11100033" }, "publicationId": "PMID:23129749" }, "phenotypeStatement": "Splenomegaly", "dateAssigned": "2016-06-14T15:11:17.000-05:00", "objectId": "HGNC:16393" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394697" }, "publicationId": "PMID:21682878" }, "phenotypeStatement": "Abnormal systemic blood pressure", "dateAssigned": "2018-02-07T15:42:10.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340564" }, "publicationId": "PMID:12134147" }, "phenotypeStatement": "Decreased CD4+ T cell proportion", "dateAssigned": "2021-08-16T15:51:19.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340571" }, "publicationId": "PMID:29947340" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-08-16T16:27:20.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097078" }, "publicationId": "PMID:24533712" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-24T17:32:27.000-05:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005086", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045840" }, "publicationId": "PMID:15380041" }, "phenotypeStatement": "Knee osteoarthritis", "dateAssigned": "2019-08-07T17:16:01.000-05:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800709" }, "publicationId": "PMID:20546606" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2019-08-08T14:58:05.000-05:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530627" }, "publicationId": "PMID:20863780" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2021-12-16T12:15:55.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655871" }, "publicationId": "PMID:12532106" }, "phenotypeStatement": "Allergic rhinitis", "dateAssigned": "2019-06-24T14:54:00.000-05:00", "objectId": "HGNC:5986" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011109", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147654" }, "publicationId": "PMID:15577839" }, "phenotypeStatement": "Chronic sinusitis", "dateAssigned": "2019-06-24T15:57:08.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100582", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147654" }, "publicationId": "PMID:15577839" }, "phenotypeStatement": "Nasal polyposis", "dateAssigned": "2019-06-24T15:57:08.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252121" }, "publicationId": "PMID:16949155" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-24T18:07:02.000-05:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251734" }, "publicationId": "PMID:10583221" }, "phenotypeStatement": "Growth delay", "dateAssigned": "2016-06-20T17:37:36.000-05:00", "objectId": "HGNC:2890" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040195", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251734" }, "publicationId": "PMID:10583221" }, "phenotypeStatement": "Decreased head circumference", "dateAssigned": "2016-06-20T17:37:36.000-05:00", "objectId": "HGNC:2890" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655871" }, "publicationId": "PMID:12532106" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2019-06-24T14:54:31.000-05:00", "objectId": "HGNC:5986" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252165" }, "publicationId": "PMID:22821389" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-27T17:54:34.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11521299" }, "publicationId": "PMID:26165383" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2021-10-01T15:56:07.000-05:00", "objectId": "HGNC:6844" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011001", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599350" }, "publicationId": "PMID:10888887" }, "phenotypeStatement": "Increased bone mineral density", "dateAssigned": "2017-09-22T12:30:29.000-05:00", "objectId": "HGNC:11647" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001297", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:149735577" }, "publicationId": "PMID:10525492" }, "phenotypeStatement": "Stroke", "dateAssigned": "2021-07-29T12:26:14.000-05:00", "objectId": "HGNC:7939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:149735577" }, "publicationId": "PMID:10525492" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2021-07-29T12:26:14.000-05:00", "objectId": "HGNC:7939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:149735577" }, "publicationId": "PMID:10525492" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2021-07-29T12:26:14.000-05:00", "objectId": "HGNC:7939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008499", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553922" }, "publicationId": "PMID:23742260" }, "phenotypeStatement": "High hypermetropia", "dateAssigned": "2016-10-17T16:52:01.000-05:00", "objectId": "HGNC:18121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001915", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251781" }, "publicationId": "PMID:26968956" }, "phenotypeStatement": "Aplastic anemia", "dateAssigned": "2016-06-22T17:14:18.000-05:00", "objectId": "HGNC:20473" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005086", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045829" }, "publicationId": "PMID:24772413" }, "phenotypeStatement": "Knee osteoarthritis", "dateAssigned": "2019-08-07T17:19:48.000-05:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005086", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10402787" }, "publicationId": "PMID:24406619" }, "phenotypeStatement": "Knee osteoarthritis", "dateAssigned": "2019-08-07T17:03:34.000-05:00", "objectId": "HGNC:6014" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005086", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10043199" }, "publicationId": "PMID:16098017" }, "phenotypeStatement": "Knee osteoarthritis", "dateAssigned": "2019-08-07T17:07:34.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002758", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045662" }, "publicationId": "PMID:20417295" }, "phenotypeStatement": "Osteoarthritis", "dateAssigned": "2019-08-07T17:22:17.000-05:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251768" }, "publicationId": "PMID:21828119" }, "phenotypeStatement": "Abnormal erythrocyte morphology", "dateAssigned": "2016-06-22T15:01:31.000-05:00", "objectId": "HGNC:1232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251769" }, "publicationId": "PMID:21933857" }, "phenotypeStatement": "Abnormal erythrocyte morphology", "dateAssigned": "2016-06-22T15:07:18.000-05:00", "objectId": "HGNC:1232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251771" }, "publicationId": "PMID:16407130" }, "phenotypeStatement": "Abnormal erythrocyte morphology", "dateAssigned": "2016-06-22T15:51:37.000-05:00", "objectId": "HGNC:1232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097407" }, "publicationId": "PMID:26375990" }, "phenotypeStatement": "Abnormal hemoglobin", "dateAssigned": "2016-07-19T11:31:35.000-05:00", "objectId": "HGNC:1455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011893", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097407" }, "publicationId": "PMID:26375990" }, "phenotypeStatement": "Abnormal leukocyte count", "dateAssigned": "2016-07-19T11:31:35.000-05:00", "objectId": "HGNC:1455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097407" }, "publicationId": "PMID:26375990" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2016-07-19T11:31:35.000-05:00", "objectId": "HGNC:1455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252179" }, "publicationId": "PMID:16507781" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-27T18:28:07.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005086", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10043199" }, "publicationId": "PMID:16098017" }, "phenotypeStatement": "Knee osteoarthritis", "dateAssigned": "2019-08-07T17:24:56.000-05:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005086", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10395368" }, "publicationId": "PMID:20495570" }, "phenotypeStatement": "Knee osteoarthritis", "dateAssigned": "2019-08-07T17:30:18.000-05:00", "objectId": "HGNC:3374" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045661" }, "publicationId": "PMID:17419075" }, "phenotypeStatement": "Hip osteoarthritis", "dateAssigned": "2019-08-08T11:53:08.000-05:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429694" }, "publicationId": "PMID:32554069" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2021-09-16T13:33:06.000-05:00", "objectId": "HGNC:25941" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040217", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11353879" }, "publicationId": "PMID:19651813" }, "phenotypeStatement": "Elevated hemoglobin A1c", "dateAssigned": "2016-07-26T16:06:17.000-05:00", "objectId": "HGNC:4922" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073369" }, "publicationId": "PMID:23859443" }, "phenotypeStatement": "Abnormal erythrocyte morphology", "dateAssigned": "2016-06-22T16:14:48.000-05:00", "objectId": "HGNC:1232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10402782" }, "publicationId": "PMID:14745651" }, "phenotypeStatement": "Hip osteoarthritis", "dateAssigned": "2019-08-07T17:58:32.000-05:00", "objectId": "HGNC:6015" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688306" }, "publicationId": "PMID:15880349" }, "phenotypeStatement": "Hip osteoarthritis", "dateAssigned": "2019-08-08T11:58:05.000-05:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694404" }, "publicationId": "PMID:23595122" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2019-08-08T15:14:28.000-05:00", "objectId": "HGNC:12762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012497", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5135298" }, "publicationId": "PMID:20720307" }, "phenotypeStatement": "Reduced maximal expiratory pressure", "dateAssigned": "2016-06-23T16:18:59.000-05:00", "objectId": "HGNC:9604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4142872" }, "publicationId": "PMID:17444587" }, "phenotypeStatement": "Anti-centromere antibody positivity", "dateAssigned": "2016-06-23T12:32:53.000-05:00", "objectId": "HGNC:6001" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13602095" }, "publicationId": "PMID:21353223" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2018-05-30T12:00:39.000-05:00", "objectId": "HGNC:6156" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100660", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482733" }, "publicationId": "PMID:20938027" }, "phenotypeStatement": "Dyskinesia", "dateAssigned": "2019-02-14T17:54:45.000-06:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533931" }, "publicationId": "PMID:25263931" }, "phenotypeStatement": "Tricuspid regurgitation", "dateAssigned": "2016-09-13T10:36:54.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533931" }, "publicationId": "PMID:25263931" }, "phenotypeStatement": "Albuminuria", "dateAssigned": "2016-09-13T10:36:54.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252160" }, "publicationId": "PMID:16723154" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-27T17:57:37.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252188" }, "publicationId": "PMID:24955348" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-28T13:16:05.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11060463" }, "publicationId": "PMID:25311495" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-28T13:16:05.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800708" }, "publicationId": "PMID:16513463" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2019-08-08T15:00:00.000-05:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002591", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600756" }, "publicationId": "PMID:12646665" }, "phenotypeStatement": "Polyphagia", "dateAssigned": "2018-02-07T18:52:42.000-06:00", "objectId": "HGNC:6932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11353867" }, "publicationId": "PMID:18842790" }, "phenotypeStatement": "Elevated transferrin saturation", "dateAssigned": "2016-07-25T17:46:19.000-05:00", "objectId": "HGNC:4827" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012211", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688741" }, "publicationId": "PMID:19786980" }, "phenotypeStatement": "Abnormal renal physiology", "dateAssigned": "2016-06-27T18:13:44.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252173" }, "publicationId": "PMID:20141440" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-27T17:53:32.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011531", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364844" }, "publicationId": "PMID:21357402" }, "phenotypeStatement": "Vitritis", "dateAssigned": "2019-02-07T14:57:59.000-06:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041894" }, "publicationId": "PMID:25051072" }, "phenotypeStatement": "Abnormal hemoglobin", "dateAssigned": "2019-04-04T16:52:44.000-05:00", "objectId": "HGNC:6014" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003454", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041894" }, "publicationId": "PMID:25051072" }, "phenotypeStatement": "Platelet antibody positive", "dateAssigned": "2019-04-04T16:52:44.000-05:00", "objectId": "HGNC:6014" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041894" }, "publicationId": "PMID:25051072" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2019-04-04T16:52:44.000-05:00", "objectId": "HGNC:6014" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551858" }, "publicationId": "PMID:20664694" }, "phenotypeStatement": "Aplasia/Hypoplasia of the iris", "dateAssigned": "2018-03-29T12:59:00.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011967", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252186" }, "publicationId": "PMID:21208200" }, "phenotypeStatement": "Decreased circulating copper concentration", "dateAssigned": "2016-06-28T11:51:36.000-05:00", "objectId": "HGNC:869" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010837", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252186" }, "publicationId": "PMID:21208200" }, "phenotypeStatement": "Decreased circulating ceruloplasmin concentration", "dateAssigned": "2016-06-28T11:51:36.000-05:00", "objectId": "HGNC:869" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100766", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662937" }, "publicationId": "PMID:15161710" }, "phenotypeStatement": "Abnormal lymphatic vessel morphology", "dateAssigned": "2019-08-20T12:03:58.000-05:00", "objectId": "HGNC:7173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11526783" }, "publicationId": "PMID:24674232" }, "phenotypeStatement": "Prominent fingertip pads", "dateAssigned": "2017-10-12T13:27:34.000-05:00", "objectId": "HGNC:18040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11526783" }, "publicationId": "PMID:24674232" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "2017-10-12T13:27:34.000-05:00", "objectId": "HGNC:18040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11526783" }, "publicationId": "PMID:24674232" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2017-10-12T13:27:34.000-05:00", "objectId": "HGNC:18040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002307", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11526783" }, "publicationId": "PMID:24674232" }, "phenotypeStatement": "Drooling", "dateAssigned": "2017-10-12T13:27:34.000-05:00", "objectId": "HGNC:18040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340569" }, "publicationId": "PMID:29032460" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-08-16T16:14:04.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340571" }, "publicationId": "PMID:29947340" }, "phenotypeStatement": "Viremia", "dateAssigned": "2021-08-16T16:27:08.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001105", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394693" }, "publicationId": "PMID:17426452" }, "phenotypeStatement": "Retinal atrophy", "dateAssigned": "2018-02-07T13:34:06.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007378", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429637" }, "publicationId": "PMID:26338826" }, "phenotypeStatement": "Neoplasm of the gastrointestinal tract", "dateAssigned": "2021-09-10T12:04:26.000-05:00", "objectId": "HGNC:18420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800706" }, "publicationId": "PMID:19112530" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2019-08-08T15:05:47.000-05:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000100", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7244144" }, "publicationId": "PMID:19011907" }, "phenotypeStatement": "Nephrotic syndrome", "dateAssigned": "2019-08-08T17:59:00.000-05:00", "objectId": "HGNC:11368" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600616" }, "publicationId": "PMID:7916660" }, "phenotypeStatement": "Hypercalcemia", "dateAssigned": "2017-09-22T13:55:14.000-05:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003127", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600616" }, "publicationId": "PMID:7916660" }, "phenotypeStatement": "Hypocalciuria", "dateAssigned": "2017-09-22T13:55:14.000-05:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001881", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252111" }, "publicationId": "PMID:19593802" }, "phenotypeStatement": "Abnormal leukocyte morphology", "dateAssigned": "2016-06-24T16:52:23.000-05:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001881", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252113" }, "publicationId": "PMID:22930568" }, "phenotypeStatement": "Abnormal leukocyte morphology", "dateAssigned": "2016-06-24T16:59:15.000-05:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001156", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073852" }, "publicationId": "PMID:25908617" }, "phenotypeStatement": "Brachydactyly", "dateAssigned": "2016-10-17T14:24:57.000-05:00", "objectId": "HGNC:29250" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001879", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4145354" }, "publicationId": "PMID:19763595" }, "phenotypeStatement": "Abnormal eosinophil morphology", "dateAssigned": "2016-06-23T12:57:34.000-05:00", "objectId": "HGNC:11848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340561" }, "publicationId": "PMID:15942906" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-08-16T15:36:52.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340568" }, "publicationId": "PMID:29330418" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-08-16T16:07:40.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012497", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5135298" }, "publicationId": "PMID:20720307" }, "phenotypeStatement": "Reduced maximal expiratory pressure", "dateAssigned": "2016-06-23T16:17:25.000-05:00", "objectId": "HGNC:9605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002963", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5130731" }, "publicationId": "PMID:20085599" }, "phenotypeStatement": "Abnormal delayed hypersensitivity skin test", "dateAssigned": "2016-06-23T14:59:02.000-05:00", "objectId": "HGNC:11850" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012147", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11079205" }, "publicationId": "PMID:8839833" }, "phenotypeStatement": "Reduced quantity of Von Willebrand factor", "dateAssigned": "2017-09-11T16:22:35.000-05:00", "objectId": "HGNC:12726" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11079205" }, "publicationId": "PMID:8839833" }, "phenotypeStatement": "Reduced von Willebrand factor activity", "dateAssigned": "2017-09-11T16:22:35.000-05:00", "objectId": "HGNC:12726" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030129", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11079205" }, "publicationId": "PMID:8839833" }, "phenotypeStatement": "Impaired ristocetin cofactor assay activity", "dateAssigned": "2017-09-11T16:22:35.000-05:00", "objectId": "HGNC:12726" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001881", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11340201" }, "publicationId": "PMID:21987080" }, "phenotypeStatement": "Abnormal leukocyte morphology", "dateAssigned": "2016-06-29T10:31:43.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011991", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11340199" }, "publicationId": "PMID:23543295" }, "phenotypeStatement": "Abnormal total neutrophil count", "dateAssigned": "2016-06-29T10:25:22.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007957", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551884" }, "publicationId": "PMID:7668281" }, "phenotypeStatement": "Corneal opacity", "dateAssigned": "2018-03-30T12:35:57.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011496", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551884" }, "publicationId": "PMID:7668281" }, "phenotypeStatement": "Corneal neovascularization", "dateAssigned": "2018-03-30T12:35:57.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551884" }, "publicationId": "PMID:7668281" }, "phenotypeStatement": "Hypoplasia of the fovea", "dateAssigned": "2018-03-30T12:35:57.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410019", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36947385" }, "publicationId": "PMID:24720453" }, "phenotypeStatement": "Epigastric pain", "dateAssigned": "2020-09-16T23:28:34.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009879", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442485" }, "publicationId": "PMID:19770472" }, "phenotypeStatement": "Simplified gyral pattern", "dateAssigned": "2017-11-03T13:40:31.000-05:00", "objectId": "HGNC:19048" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442485" }, "publicationId": "PMID:19770472" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2017-11-03T13:40:31.000-05:00", "objectId": "HGNC:19048" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Myocarditis", "dateAssigned": "2019-06-20T18:02:53.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Arthritis", "dateAssigned": "2019-06-20T18:02:53.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Chorea", "dateAssigned": "2019-06-20T18:02:53.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001881", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252110" }, "publicationId": "PMID:21983886" }, "phenotypeStatement": "Abnormal leukocyte morphology", "dateAssigned": "2016-06-24T16:50:19.000-05:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11070199" }, "publicationId": "PMID:15031030" }, "phenotypeStatement": "Anemia", "dateAssigned": "2017-05-01T17:18:48.000-05:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010783", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Erythema", "dateAssigned": "2019-06-20T18:02:53.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Subcutaneous nodule", "dateAssigned": "2019-06-20T18:02:53.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012532", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340677" }, "publicationId": "PMID:31784499" }, "phenotypeStatement": "Chronic pain", "dateAssigned": "2021-08-26T14:49:57.000-05:00", "objectId": "HGNC:6881" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005162", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329412474" }, "publicationId": "PMID:15309698" }, "phenotypeStatement": "Abnormal left ventricular function", "dateAssigned": "2023-05-18T09:12:51.000-05:00", "objectId": "HGNC:468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252118" }, "publicationId": "PMID:21228718" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-24T17:45:33.000-05:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000008", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340677" }, "publicationId": "PMID:31784499" }, "phenotypeStatement": "Abnormal morphology of female internal genitalia", "dateAssigned": "2021-08-26T14:51:06.000-05:00", "objectId": "HGNC:6881" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340569" }, "publicationId": "PMID:29032460" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2021-08-16T16:13:36.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012090", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13462042" }, "publicationId": "PMID:24132918" }, "phenotypeStatement": "Abnormal pancreas morphology", "dateAssigned": "2017-12-07T14:59:36.000-06:00", "objectId": "HGNC:391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012090", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13451540" }, "publicationId": "PMID:20357690" }, "phenotypeStatement": "Abnormal pancreas morphology", "dateAssigned": "2017-12-07T15:27:23.000-06:00", "objectId": "HGNC:1511" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901814" }, "publicationId": "PMID:20716378" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-06-26T14:47:25.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012372", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340559" }, "publicationId": "PMID:27827450" }, "phenotypeStatement": "Abnormal eye morphology", "dateAssigned": "2021-08-16T15:30:36.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032262", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340566" }, "publicationId": "PMID:22653583" }, "phenotypeStatement": "Pulmonary tuberculosis", "dateAssigned": "2021-08-16T15:59:26.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410371", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340568" }, "publicationId": "PMID:29330418" }, "phenotypeStatement": "Increased hepatitis C virus antibody level", "dateAssigned": "2021-08-16T16:07:58.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657073" }, "publicationId": "PMID:22705826" }, "phenotypeStatement": "Recurrent aphthous stomatitis", "dateAssigned": "2016-09-13T09:23:40.000-05:00", "objectId": "HGNC:40" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530647" }, "publicationId": "PMID:23983608" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2021-12-20T22:17:00.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340558" }, "publicationId": "PMID:25576295" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2021-08-15T21:59:50.000-05:00", "objectId": "HGNC:10680" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011749", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147588" }, "publicationId": "PMID:19858318" }, "phenotypeStatement": "Adrenocorticotropic hormone excess", "dateAssigned": "2016-06-01T14:20:45.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002797", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688299" }, "publicationId": "PMID:15081423" }, "phenotypeStatement": "Osteolysis", "dateAssigned": "2016-06-01T15:17:47.000-05:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100651", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147565" }, "publicationId": "PMID:21388354" }, "phenotypeStatement": "Type I diabetes mellitus", "dateAssigned": "2019-02-27T12:40:27.000-06:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800699" }, "publicationId": "PMID:16617242" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2019-08-08T15:09:52.000-05:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800714" }, "publicationId": "PMID:16735988" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2019-08-08T15:11:07.000-05:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4891495" }, "publicationId": "PMID:15207712" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2016-06-02T15:15:38.000-05:00", "objectId": "HGNC:10625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002094", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4891495" }, "publicationId": "PMID:15207712" }, "phenotypeStatement": "Dyspnea", "dateAssigned": "2016-06-02T15:15:38.000-05:00", "objectId": "HGNC:10625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012735", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4891495" }, "publicationId": "PMID:15207712" }, "phenotypeStatement": "Cough", "dateAssigned": "2016-06-02T15:15:38.000-05:00", "objectId": "HGNC:10625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001659", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794441" }, "publicationId": "PMID:30354298" }, "phenotypeStatement": "Aortic regurgitation", "dateAssigned": "2023-09-15T12:45:43.000-05:00", "objectId": "HGNC:11645" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032262", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340565" }, "publicationId": "PMID:22426166" }, "phenotypeStatement": "Pulmonary tuberculosis", "dateAssigned": "2021-08-16T15:57:24.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030359", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150383339" }, "publicationId": "PMID:28642860" }, "phenotypeStatement": "Squamous cell lung carcinoma", "dateAssigned": "2021-08-31T23:04:50.000-05:00", "objectId": "HGNC:795" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003831", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540318" }, "publicationId": "PMID:33723131" }, "phenotypeStatement": "Typified by age-related disease onset", "dateAssigned": "2021-12-31T17:05:27.000-06:00", "objectId": "HGNC:13176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11536957" }, "publicationId": "PMID:26449183" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-09-29T11:21:51.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429787" }, "publicationId": "PMID:32898339" }, "phenotypeStatement": "Abnormal lymph node morphology", "dateAssigned": "2021-09-29T08:44:42.000-05:00", "objectId": "HGNC:6693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694210" }, "publicationId": "PMID:9152134" }, "phenotypeStatement": "Small for gestational age", "dateAssigned": "2019-06-20T17:23:55.000-05:00", "objectId": "HGNC:7678" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000488", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694210" }, "publicationId": "PMID:9152134" }, "phenotypeStatement": "Retinopathy", "dateAssigned": "2019-06-20T17:23:55.000-05:00", "objectId": "HGNC:7678" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001622", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694210" }, "publicationId": "PMID:9152134" }, "phenotypeStatement": "Premature birth", "dateAssigned": "2019-06-20T17:23:55.000-05:00", "objectId": "HGNC:7678" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073852" }, "publicationId": "PMID:25908617" }, "phenotypeStatement": "Short ribs", "dateAssigned": "2016-10-17T14:24:57.000-05:00", "objectId": "HGNC:29250" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073852" }, "publicationId": "PMID:25908617" }, "phenotypeStatement": "Postaxial polydactyly", "dateAssigned": "2016-10-17T14:24:57.000-05:00", "objectId": "HGNC:29250" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800715" }, "publicationId": "PMID:23401657" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2019-08-08T14:56:04.000-05:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508426" }, "publicationId": "PMID:20838799" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-08T17:33:03.000-05:00", "objectId": "HGNC:4177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001875", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11035278" }, "publicationId": "PMID:20309628" }, "phenotypeStatement": "Decreased total neutrophil count", "dateAssigned": "2019-08-08T16:07:11.000-05:00", "objectId": "HGNC:11180" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38676265" }, "publicationId": "PMID:30452889" }, "phenotypeStatement": "Thrombocytopenia", "dateAssigned": "2020-09-16T23:24:36.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007302", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405866353" }, "publicationId": "PMID:30121446" }, "phenotypeStatement": "Bipolar affective disorder", "dateAssigned": "2024-06-27T14:39:13.000-05:00", "objectId": "HGNC:701" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030078", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11064706" }, "publicationId": "PMID:18948947" }, "phenotypeStatement": "Lung adenocarcinoma", "dateAssigned": "2021-09-29T09:14:32.000-05:00", "objectId": "HGNC:6693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:149735577" }, "publicationId": "PMID:10525492" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2021-07-29T12:26:14.000-05:00", "objectId": "HGNC:7939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:149735577" }, "publicationId": "PMID:10525492" }, "phenotypeStatement": "Diabetes mellitus", "dateAssigned": "2021-07-29T12:26:14.000-05:00", "objectId": "HGNC:7939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005339", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11352767" }, "publicationId": "PMID:14615110" }, "phenotypeStatement": "Abnormality of complement system", "dateAssigned": "2016-07-19T16:32:23.000-05:00", "objectId": "HGNC:6953" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011220", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910952" }, "publicationId": "PMID:17334363" }, "phenotypeStatement": "Prominent forehead", "dateAssigned": "2017-06-29T14:47:48.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910952" }, "publicationId": "PMID:17334363" }, "phenotypeStatement": "Macrocephaly", "dateAssigned": "2017-06-29T14:47:48.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910952" }, "publicationId": "PMID:17334363" }, "phenotypeStatement": "Relative macrocephaly", "dateAssigned": "2017-06-29T14:47:48.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000190", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535960" }, "publicationId": "PMID:21729220" }, "phenotypeStatement": "Abnormal oral frenulum morphology", "dateAssigned": "2016-09-23T16:48:35.000-05:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200154", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535960" }, "publicationId": "PMID:21729220" }, "phenotypeStatement": "Agenesis of mandibular lateral incisor", "dateAssigned": "2016-09-23T16:48:35.000-05:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012393", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4891493" }, "publicationId": "PMID:15580493" }, "phenotypeStatement": "Allergy", "dateAssigned": "2016-06-02T15:47:43.000-05:00", "objectId": "HGNC:10625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030502", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9587801" }, "publicationId": "PMID:22245991" }, "phenotypeStatement": "Retinoschisis", "dateAssigned": "2019-06-20T17:33:56.000-05:00", "objectId": "HGNC:10457" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001417", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9587801" }, "publicationId": "PMID:22245991" }, "phenotypeStatement": "X-linked inheritance", "dateAssigned": "2019-06-20T17:33:56.000-05:00", "objectId": "HGNC:10457" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008163", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147553" }, "publicationId": "PMID:21816777" }, "phenotypeStatement": "Decreased circulating cortisol level", "dateAssigned": "2016-06-01T14:07:31.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011749", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147553" }, "publicationId": "PMID:21816777" }, "phenotypeStatement": "Adrenocorticotropic hormone excess", "dateAssigned": "2016-06-01T14:07:31.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147553" }, "publicationId": "PMID:21816777" }, "phenotypeStatement": "Autoimmune antibody positivity", "dateAssigned": "2016-06-01T14:07:31.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011749", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484549" }, "publicationId": "PMID:18301444" }, "phenotypeStatement": "Adrenocorticotropic hormone excess", "dateAssigned": "2016-06-01T14:43:37.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008163", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484549" }, "publicationId": "PMID:18301444" }, "phenotypeStatement": "Decreased circulating cortisol level", "dateAssigned": "2016-06-01T14:43:37.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011900", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:737709" }, "publicationId": "PMID:12393540" }, "phenotypeStatement": "Hypofibrinogenemia", "dateAssigned": "2016-06-01T15:00:14.000-05:00", "objectId": "HGNC:3662" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150539031" }, "publicationId": "PMID:28638257" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2021-12-23T11:54:14.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000504", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551860" }, "publicationId": "PMID:22815628" }, "phenotypeStatement": "Abnormality of vision", "dateAssigned": "2018-03-30T11:59:58.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483361" }, "publicationId": "PMID:21665002" }, "phenotypeStatement": "Mitochondrial swelling", "dateAssigned": "2018-10-12T15:16:45.000-05:00", "objectId": "HGNC:1938" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508409" }, "publicationId": "PMID:21159540" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2019-02-13T18:09:21.000-06:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490158" }, "publicationId": "PMID:20711177" }, "phenotypeStatement": "Lewy bodies", "dateAssigned": "2019-02-13T15:44:19.000-06:00", "objectId": "HGNC:4947" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490158" }, "publicationId": "PMID:20711177" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2019-02-13T15:44:19.000-06:00", "objectId": "HGNC:4947" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007634", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394764" }, "publicationId": "PMID:15043529" }, "phenotypeStatement": "Nonarteritic anterior ischemic optic neuropathy", "dateAssigned": "2019-08-08T14:02:28.000-05:00", "objectId": "HGNC:3542" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7174717" }, "publicationId": "PMID:18246526" }, "phenotypeStatement": "Obesity", "dateAssigned": "2019-08-08T15:35:41.000-05:00", "objectId": "HGNC:20389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002758", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045830" }, "publicationId": "PMID:19884274" }, "phenotypeStatement": "Osteoarthritis", "dateAssigned": "2019-08-08T12:16:55.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006254", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14695540" }, "publicationId": "PMID:27429592" }, "phenotypeStatement": "Elevated circulating alpha-fetoprotein concentration", "dateAssigned": "2019-07-08T11:03:49.000-05:00", "objectId": "HGNC:5986" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001824", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13204855" }, "publicationId": "PMID:21914217" }, "phenotypeStatement": "Weight loss", "dateAssigned": "2017-07-24T12:47:04.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000666", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552277" }, "publicationId": "PMID:22393272" }, "phenotypeStatement": "Horizontal nystagmus", "dateAssigned": "2018-04-02T10:11:54.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552277" }, "publicationId": "PMID:22393272" }, "phenotypeStatement": "Abnormal lens morphology", "dateAssigned": "2018-04-02T10:11:54.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011355", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13204855" }, "publicationId": "PMID:21914217" }, "phenotypeStatement": "Localized skin lesion", "dateAssigned": "2017-07-24T12:47:04.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000657", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073359" }, "publicationId": "PMID:17558409" }, "phenotypeStatement": "Oculomotor apraxia", "dateAssigned": "2017-07-20T14:15:05.000-05:00", "objectId": "HGNC:29168" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008207", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147829" }, "publicationId": "PMID:12072047" }, "phenotypeStatement": "Primary adrenal insufficiency", "dateAssigned": "2016-06-01T13:52:34.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530634" }, "publicationId": "PMID:27123143" }, "phenotypeStatement": "Esophageal carcinoma", "dateAssigned": "2021-12-20T14:39:34.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530641" }, "publicationId": "PMID:17009149" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2021-12-20T18:04:26.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100630", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429763" }, "publicationId": "PMID:21702039" }, "phenotypeStatement": "Neoplasia of the nasopharynx", "dateAssigned": "2021-09-27T18:22:08.000-05:00", "objectId": "HGNC:6844" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011991", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11098572" }, "publicationId": "PMID:21047201" }, "phenotypeStatement": "Abnormal total neutrophil count", "dateAssigned": "2016-06-29T10:19:00.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601571" }, "publicationId": "PMID:12058348" }, "phenotypeStatement": "Ptosis", "dateAssigned": "2017-02-10T15:34:58.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601571" }, "publicationId": "PMID:12058348" }, "phenotypeStatement": "Posteriorly rotated ears", "dateAssigned": "2017-02-10T15:34:58.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001626", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601571" }, "publicationId": "PMID:12058348" }, "phenotypeStatement": "Abnormality of the cardiovascular system", "dateAssigned": "2017-02-10T15:34:58.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252193" }, "publicationId": "PMID:23397959" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2016-06-28T13:55:45.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007705", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551859" }, "publicationId": "PMID:22171157" }, "phenotypeStatement": "Corneal degeneration", "dateAssigned": "2018-03-30T11:45:13.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551859" }, "publicationId": "PMID:22171157" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2018-03-30T11:45:13.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000666", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551859" }, "publicationId": "PMID:22171157" }, "phenotypeStatement": "Horizontal nystagmus", "dateAssigned": "2018-03-30T11:45:37.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002076", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340677" }, "publicationId": "PMID:31784499" }, "phenotypeStatement": "Migraine", "dateAssigned": "2021-08-26T14:50:04.000-05:00", "objectId": "HGNC:6881" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000820", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147646" }, "publicationId": "PMID:16254435" }, "phenotypeStatement": "Abnormality of the thyroid gland", "dateAssigned": "2019-02-27T12:09:28.000-06:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147646" }, "publicationId": "PMID:16254435" }, "phenotypeStatement": "Autoimmune antibody positivity", "dateAssigned": "2019-02-27T12:09:28.000-06:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1298571" }, "publicationId": "PMID:10431236" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "2016-06-29T14:02:24.000-05:00", "objectId": "HGNC:29" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490291" }, "publicationId": "PMID:14598233" }, "phenotypeStatement": "Irritability", "dateAssigned": "2018-09-04T11:01:17.000-05:00", "objectId": "HGNC:7414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002339", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490291" }, "publicationId": "PMID:14598233" }, "phenotypeStatement": "Abnormal caudate nucleus morphology", "dateAssigned": "2018-09-04T11:01:17.000-05:00", "objectId": "HGNC:7414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012469", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490291" }, "publicationId": "PMID:14598233" }, "phenotypeStatement": "Infantile spasms", "dateAssigned": "2018-09-04T11:01:17.000-05:00", "objectId": "HGNC:7414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000137", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252176" }, "publicationId": "PMID:25881102" }, "phenotypeStatement": "Abnormality of the ovary", "dateAssigned": "2016-06-28T16:16:43.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252209" }, "publicationId": "PMID:21394217" }, "phenotypeStatement": "Abnormal myeloid leukocyte morphology", "dateAssigned": "2016-06-28T17:55:45.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11352804" }, "publicationId": "PMID:20684753" }, "phenotypeStatement": "Abnormal circulating creatine concentration", "dateAssigned": "2016-07-20T09:40:18.000-05:00", "objectId": "HGNC:2621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005561", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449397" }, "publicationId": "PMID:24839819" }, "phenotypeStatement": "Abnormal bone marrow cell morphology", "dateAssigned": "2018-09-14T13:50:37.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040217", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540303" }, "publicationId": "PMID:23674172" }, "phenotypeStatement": "Elevated hemoglobin A1c", "dateAssigned": "2021-12-31T16:47:50.000-06:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540303" }, "publicationId": "PMID:23674172" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2021-12-31T16:48:15.000-06:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011001", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626507" }, "publicationId": "PMID:16777502" }, "phenotypeStatement": "Increased bone mineral density", "dateAssigned": "2018-02-07T13:59:57.000-06:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429785" }, "publicationId": "PMID:33391418" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-09-29T08:30:35.000-05:00", "objectId": "HGNC:6693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429789" }, "publicationId": "PMID:33219256" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2021-09-29T09:01:06.000-05:00", "objectId": "HGNC:6693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002846", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11252204" }, "publicationId": "PMID:19484764" }, "phenotypeStatement": "Abnormal B cell morphology", "dateAssigned": "2016-06-28T15:35:38.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041162" }, "publicationId": "PMID:23243267" }, "phenotypeStatement": "Autoimmune antibody positivity", "dateAssigned": "2016-06-29T14:42:36.000-05:00", "objectId": "HGNC:4888" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012232", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13605621" }, "publicationId": "PMID:22726844" }, "phenotypeStatement": "Shortened QT interval", "dateAssigned": "2018-06-11T16:05:47.000-05:00", "objectId": "HGNC:11068" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012248", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13605622" }, "publicationId": "PMID:25055868" }, "phenotypeStatement": "Prolonged PR interval", "dateAssigned": "2018-06-11T16:16:28.000-05:00", "objectId": "HGNC:11068" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552820" }, "publicationId": "PMID:23559865" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-04-04T11:56:48.000-05:00", "objectId": "HGNC:9236" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008046", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552820" }, "publicationId": "PMID:23559865" }, "phenotypeStatement": "Abnormal retinal vascular morphology", "dateAssigned": "2018-04-04T11:56:48.000-05:00", "objectId": "HGNC:9236" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553233" }, "publicationId": "PMID:20021257" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-04-06T16:51:49.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007994", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553233" }, "publicationId": "PMID:20021257" }, "phenotypeStatement": "Peripheral visual field loss", "dateAssigned": "2018-04-06T16:51:49.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001942", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1302549" }, "publicationId": "PMID:12124727" }, "phenotypeStatement": "Metabolic acidosis", "dateAssigned": "2017-08-25T15:40:35.000-05:00", "objectId": "HGNC:4285" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551859" }, "publicationId": "PMID:22171157" }, "phenotypeStatement": "Aplasia/Hypoplasia of the iris", "dateAssigned": "2016-09-07T11:31:49.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684893" }, "publicationId": "PMID:12739037" }, "phenotypeStatement": "Interphalangeal joint erosions", "dateAssigned": "2016-09-07T14:38:51.000-05:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001387", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684893" }, "publicationId": "PMID:12739037" }, "phenotypeStatement": "Joint stiffness", "dateAssigned": "2016-09-07T14:38:51.000-05:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002923", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684893" }, "publicationId": "PMID:12739037" }, "phenotypeStatement": "Rheumatoid factor positive", "dateAssigned": "2016-09-07T14:38:51.000-05:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001386", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588977" }, "publicationId": "PMID:20676650" }, "phenotypeStatement": "Joint swelling", "dateAssigned": "2016-09-07T14:58:34.000-05:00", "objectId": "HGNC:6919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410371", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340570" }, "publicationId": "PMID:17445180" }, "phenotypeStatement": "Increased hepatitis C virus antibody level", "dateAssigned": "2021-08-16T16:21:00.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001339", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:731235" }, "publicationId": "PMID:12369018" }, "phenotypeStatement": "Lissencephaly", "dateAssigned": "2016-09-07T10:28:41.000-05:00", "objectId": "HGNC:9202" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002758", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10043102" }, "publicationId": "PMID:22961118" }, "phenotypeStatement": "Osteoarthritis", "dateAssigned": "2019-08-08T13:00:06.000-05:00", "objectId": "HGNC:221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001298", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490249" }, "publicationId": "PMID:17022435" }, "phenotypeStatement": "Encephalopathy", "dateAssigned": "2019-08-08T16:34:11.000-05:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025169", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073137" }, "publicationId": "PMID:22224630" }, "phenotypeStatement": "Left ventricular systolic dysfunction", "dateAssigned": "2017-03-02T15:55:50.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001714", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073137" }, "publicationId": "PMID:22224630" }, "phenotypeStatement": "Ventricular hypertrophy", "dateAssigned": "2017-03-02T15:55:50.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100785", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925194" }, "publicationId": "PMID:29216791" }, "phenotypeStatement": "Insomnia", "dateAssigned": "2021-05-14T07:22:31.000-05:00", "objectId": "HGNC:31533" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0045082", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540318" }, "publicationId": "PMID:33723131" }, "phenotypeStatement": "Decreased body mass index", "dateAssigned": "2021-12-31T17:05:33.000-06:00", "objectId": "HGNC:13176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657032" }, "publicationId": "PMID:18626569" }, "phenotypeStatement": "Abnormal corneal thickness", "dateAssigned": "2018-04-13T17:40:42.000-05:00", "objectId": "HGNC:12723" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15042860" }, "publicationId": "PMID:14506613" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2019-12-12T10:00:06.000-06:00", "objectId": "HGNC:404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012182", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449416" }, "publicationId": "PMID:16365753" }, "phenotypeStatement": "Oropharyngeal squamous cell carcinoma", "dateAssigned": "2019-08-08T13:51:28.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010865", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907129" }, "publicationId": "PMID:10380986" }, "phenotypeStatement": "Oppositional defiant disorder", "dateAssigned": "2019-08-08T15:17:33.000-05:00", "objectId": "HGNC:644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009588", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688735" }, "publicationId": "PMID:20150366" }, "phenotypeStatement": "Vestibular schwannoma", "dateAssigned": "2019-08-08T16:53:55.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031700", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041780" }, "publicationId": "PMID:11076705" }, "phenotypeStatement": "Invasive parasitic infection", "dateAssigned": "2018-08-31T13:32:00.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041780" }, "publicationId": "PMID:11076705" }, "phenotypeStatement": "Anemia", "dateAssigned": "2018-08-31T13:32:00.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910948" }, "publicationId": "PMID:20507344" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2017-06-29T10:32:05.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910948" }, "publicationId": "PMID:20507344" }, "phenotypeStatement": "Macrocephaly", "dateAssigned": "2017-06-29T10:32:05.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552277" }, "publicationId": "PMID:22393272" }, "phenotypeStatement": "Aplasia/Hypoplasia of the iris", "dateAssigned": "2016-09-07T11:50:56.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073512" }, "publicationId": "PMID:25900779" }, "phenotypeStatement": "Subependymal nodules", "dateAssigned": "2016-12-15T17:40:21.000-06:00", "objectId": "HGNC:12362" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010615", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073512" }, "publicationId": "PMID:25900779" }, "phenotypeStatement": "Angiofibromas", "dateAssigned": "2016-12-15T17:40:21.000-06:00", "objectId": "HGNC:12362" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025095", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4891493" }, "publicationId": "PMID:15580493" }, "phenotypeStatement": "Sneeze", "dateAssigned": "2018-02-27T15:58:20.000-06:00", "objectId": "HGNC:10625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147576" }, "publicationId": "PMID:20462916" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2019-02-13T16:37:34.000-06:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508408" }, "publicationId": "PMID:21167764" }, "phenotypeStatement": "Tremor", "dateAssigned": "2019-02-13T17:57:18.000-06:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002063", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508408" }, "publicationId": "PMID:21167764" }, "phenotypeStatement": "Rigidity", "dateAssigned": "2019-02-13T17:57:18.000-06:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508408" }, "publicationId": "PMID:21167764" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2019-02-13T17:57:18.000-06:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008208", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13432057" }, "publicationId": "PMID:9070272" }, "phenotypeStatement": "Parathyroid hyperplasia", "dateAssigned": "2017-09-15T11:41:15.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450505" }, "publicationId": "PMID:16227998" }, "phenotypeStatement": "Abnormal erythrocyte morphology", "dateAssigned": "2016-09-07T10:51:54.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551858" }, "publicationId": "PMID:20664694" }, "phenotypeStatement": "Aplasia/Hypoplasia of the iris", "dateAssigned": "2016-09-07T11:22:12.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340573" }, "publicationId": "PMID:18074414" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-08-16T16:33:09.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829824" }, "publicationId": "PMID:11298547" }, "phenotypeStatement": "Middle age onset", "dateAssigned": "2019-03-20T17:37:38.000-05:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009879", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442486" }, "publicationId": "PMID:18452193" }, "phenotypeStatement": "Simplified gyral pattern", "dateAssigned": "2017-11-03T13:52:59.000-05:00", "objectId": "HGNC:19048" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:126925194" }, "publicationId": "PMID:29216791" }, "phenotypeStatement": "Mutism", "dateAssigned": "2021-05-14T07:22:26.000-05:00", "objectId": "HGNC:31533" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910482" }, "publicationId": "PMID:23592911" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2017-06-15T12:37:54.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36947384" }, "publicationId": "PMID:27439447" }, "phenotypeStatement": "Depression", "dateAssigned": "2020-08-10T16:31:20.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9587484" }, "publicationId": "PMID:20410850" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2016-09-12T15:59:13.000-05:00", "objectId": "HGNC:17071" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010876", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696737" }, "publicationId": "PMID:25452597" }, "phenotypeStatement": "Abnormal circulating protein concentration", "dateAssigned": "2019-07-23T11:24:36.000-05:00", "objectId": "HGNC:2024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010876", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696737" }, "publicationId": "PMID:25452597" }, "phenotypeStatement": "Abnormal circulating protein concentration", "dateAssigned": "2019-07-23T11:24:36.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000496", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11556211" }, "publicationId": "PMID:23687435" }, "phenotypeStatement": "Abnormality of eye movement", "dateAssigned": "2016-10-27T13:32:50.000-05:00", "objectId": "HGNC:15924" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012184", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580204" }, "publicationId": "PMID:12621166" }, "phenotypeStatement": "Increased HDL cholesterol concentration", "dateAssigned": "2020-08-10T14:54:13.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551858" }, "publicationId": "PMID:20664694" }, "phenotypeStatement": "Cataract", "dateAssigned": "2018-03-29T12:59:00.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533642" }, "publicationId": "PMID:25699607" }, "phenotypeStatement": "Increased carotid artery intimal medial thickness", "dateAssigned": "2016-09-08T16:15:46.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040088", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533642" }, "publicationId": "PMID:25699607" }, "phenotypeStatement": "Abnormal lymphocyte count", "dateAssigned": "2016-09-08T16:15:46.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025521", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601429" }, "publicationId": "PMID:15812563" }, "phenotypeStatement": "Increased body fat percentage", "dateAssigned": "2020-08-10T15:23:45.000-05:00", "objectId": "HGNC:9201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535963" }, "publicationId": "PMID:19800048" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2016-09-23T18:30:59.000-05:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003002", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429734" }, "publicationId": "PMID:32923150" }, "phenotypeStatement": "Breast carcinoma", "dateAssigned": "2021-09-22T13:32:30.000-05:00", "objectId": "HGNC:12637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002862", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429735" }, "publicationId": "PMID:30352907" }, "phenotypeStatement": "Bladder carcinoma", "dateAssigned": "2021-09-22T13:44:31.000-05:00", "objectId": "HGNC:12637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:3000033", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429736" }, "publicationId": "PMID:31483290" }, "phenotypeStatement": "Abnormal nasopharyngeal adenoid morphology", "dateAssigned": "2021-09-22T13:47:56.000-05:00", "objectId": "HGNC:12637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340570" }, "publicationId": "PMID:17445180" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2021-08-16T16:18:18.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001408", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073359" }, "publicationId": "PMID:17558409" }, "phenotypeStatement": "Bile duct proliferation", "dateAssigned": "2017-07-20T14:30:17.000-05:00", "objectId": "HGNC:29168" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073359" }, "publicationId": "PMID:17558409" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2017-07-20T14:30:17.000-05:00", "objectId": "HGNC:29168" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442490" }, "publicationId": "PMID:26997013" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2017-11-03T16:24:44.000-05:00", "objectId": "HGNC:886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442490" }, "publicationId": "PMID:26997013" }, "phenotypeStatement": "Language impairment", "dateAssigned": "2017-11-03T16:24:44.000-05:00", "objectId": "HGNC:886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442490" }, "publicationId": "PMID:26997013" }, "phenotypeStatement": "Anteverted nares", "dateAssigned": "2017-11-03T16:24:44.000-05:00", "objectId": "HGNC:886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442490" }, "publicationId": "PMID:26997013" }, "phenotypeStatement": "Large forehead", "dateAssigned": "2017-11-03T16:24:44.000-05:00", "objectId": "HGNC:886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442490" }, "publicationId": "PMID:26997013" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2017-11-03T16:24:44.000-05:00", "objectId": "HGNC:886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13442490" }, "publicationId": "PMID:26997013" }, "phenotypeStatement": "Motor stereotypy", "dateAssigned": "2017-11-03T16:24:44.000-05:00", "objectId": "HGNC:886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011118", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450871" }, "publicationId": "PMID:21435719" }, "phenotypeStatement": "Abnormality of tumor necrosis factor secretion", "dateAssigned": "2018-06-01T11:53:41.000-05:00", "objectId": "HGNC:12814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537393" }, "publicationId": "PMID:20797691" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2016-10-04T11:55:39.000-05:00", "objectId": "HGNC:29203" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073359" }, "publicationId": "PMID:17558409" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2017-07-20T14:32:18.000-05:00", "objectId": "HGNC:29168" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002728", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340677" }, "publicationId": "PMID:31784499" }, "phenotypeStatement": "Chronic mucocutaneous candidiasis", "dateAssigned": "2021-08-26T14:48:30.000-05:00", "objectId": "HGNC:6881" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551870" }, "publicationId": "PMID:19862335" }, "phenotypeStatement": "Aplasia/Hypoplasia of the iris", "dateAssigned": "2016-09-07T11:41:16.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001386", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684893" }, "publicationId": "PMID:12739037" }, "phenotypeStatement": "Joint swelling", "dateAssigned": "2016-09-07T14:38:51.000-05:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:737761" }, "publicationId": "PMID:11381268" }, "phenotypeStatement": "Obesity", "dateAssigned": "2019-08-08T15:30:23.000-05:00", "objectId": "HGNC:12518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10402807" }, "publicationId": "PMID:17984249" }, "phenotypeStatement": "Obesity", "dateAssigned": "2019-08-08T15:51:06.000-05:00", "objectId": "HGNC:6019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553863" }, "publicationId": "PMID:18513683" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2016-10-14T17:11:56.000-05:00", "objectId": "HGNC:20859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011121", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553863" }, "publicationId": "PMID:18513683" }, "phenotypeStatement": "Abnormal skin morphology", "dateAssigned": "2016-10-14T17:11:56.000-05:00", "objectId": "HGNC:20859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005922", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553863" }, "publicationId": "PMID:18513683" }, "phenotypeStatement": "Abnormal hand morphology", "dateAssigned": "2016-10-14T17:11:56.000-05:00", "objectId": "HGNC:20859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553863" }, "publicationId": "PMID:18513683" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2016-10-14T17:11:56.000-05:00", "objectId": "HGNC:20859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553863" }, "publicationId": "PMID:18513683" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2016-10-14T17:11:56.000-05:00", "objectId": "HGNC:20859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553845" }, "publicationId": "PMID:26260382" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2016-10-14T13:38:03.000-05:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000951", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340677" }, "publicationId": "PMID:31784499" }, "phenotypeStatement": "Abnormality of the skin", "dateAssigned": "2021-08-26T14:50:54.000-05:00", "objectId": "HGNC:6881" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000979", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11039045" }, "publicationId": "PMID:16521052" }, "phenotypeStatement": "Purpura", "dateAssigned": "2019-07-31T16:15:23.000-05:00", "objectId": "HGNC:333" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002652", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11074664" }, "publicationId": "PMID:26116559" }, "phenotypeStatement": "Skeletal dysplasia", "dateAssigned": "2016-10-14T13:22:46.000-05:00", "objectId": "HGNC:6758" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000528", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11074664" }, "publicationId": "PMID:26116559" }, "phenotypeStatement": "Anophthalmia", "dateAssigned": "2016-10-14T13:22:46.000-05:00", "objectId": "HGNC:6758" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11074664" }, "publicationId": "PMID:26116559" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2016-10-14T13:22:46.000-05:00", "objectId": "HGNC:6758" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340677" }, "publicationId": "PMID:31784499" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2021-08-26T14:49:50.000-05:00", "objectId": "HGNC:6881" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340677" }, "publicationId": "PMID:31784499" }, "phenotypeStatement": "Abnormal gastrointestinal transit time", "dateAssigned": "2021-08-26T14:50:12.000-05:00", "objectId": "HGNC:6881" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401252" }, "publicationId": "PMID:19899988" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T15:35:27.000-05:00", "objectId": "HGNC:1318" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038718" }, "publicationId": "PMID:15531454" }, "phenotypeStatement": "Lymphoma", "dateAssigned": "2019-08-15T12:33:40.000-05:00", "objectId": "HGNC:11904" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147794" }, "publicationId": "PMID:16234023" }, "phenotypeStatement": "Lymphoma", "dateAssigned": "2019-08-15T12:45:01.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364831" }, "publicationId": "PMID:22628023" }, "phenotypeStatement": "Lymphoma", "dateAssigned": "2019-08-15T12:57:17.000-05:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547819" }, "publicationId": "PMID:22237587" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2019-06-24T15:34:11.000-05:00", "objectId": "HGNC:7176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800683" }, "publicationId": "PMID:21538838" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2019-08-08T14:50:42.000-05:00", "objectId": "HGNC:12762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025318", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688741" }, "publicationId": "PMID:19786980" }, "phenotypeStatement": "Ovarian carcinoma", "dateAssigned": "2019-08-08T16:15:20.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11352700" }, "publicationId": "PMID:18345000" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2016-07-15T15:12:32.000-05:00", "objectId": "HGNC:19986" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007420", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13464128" }, "publicationId": "PMID:28131619" }, "phenotypeStatement": "Spontaneous hematomas", "dateAssigned": "2017-12-22T11:31:45.000-06:00", "objectId": "HGNC:4440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:149735513" }, "publicationId": "PMID:33075166" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2021-07-23T14:38:42.000-05:00", "objectId": "HGNC:3765" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002524", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483443" }, "publicationId": "PMID:18820697" }, "phenotypeStatement": "Cataplexy", "dateAssigned": "2018-10-26T18:16:16.000-05:00", "objectId": "HGNC:1938" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500105", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11564753" }, "publicationId": "PMID:26658788" }, "phenotypeStatement": "Decreased systolic blood pressure", "dateAssigned": "2019-07-23T10:06:30.000-05:00", "objectId": "HGNC:2024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500104", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11564753" }, "publicationId": "PMID:26658788" }, "phenotypeStatement": "Decreased diastolic blood pressure", "dateAssigned": "2019-07-23T10:06:30.000-05:00", "objectId": "HGNC:2024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010876", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696737" }, "publicationId": "PMID:25452597" }, "phenotypeStatement": "Abnormal circulating protein concentration", "dateAssigned": "2019-07-23T11:24:36.000-05:00", "objectId": "HGNC:7940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662335" }, "publicationId": "PMID:19881467" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-07-23T17:56:02.000-05:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001097", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551796" }, "publicationId": "PMID:12412204" }, "phenotypeStatement": "Keratoconjunctivitis sicca", "dateAssigned": "2019-09-11T12:03:57.000-05:00", "objectId": "HGNC:1606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008151", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040509" }, "publicationId": "PMID:17110937" }, "phenotypeStatement": "Prolonged prothrombin time", "dateAssigned": "2017-12-22T14:54:13.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007522", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040509" }, "publicationId": "PMID:17110937" }, "phenotypeStatement": "Increased number of skin folds", "dateAssigned": "2017-12-22T14:54:13.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008321", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040509" }, "publicationId": "PMID:17110937" }, "phenotypeStatement": "Reduced factor X activity", "dateAssigned": "2017-12-22T14:54:13.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008169", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040509" }, "publicationId": "PMID:17110937" }, "phenotypeStatement": "Reduced factor VII activity", "dateAssigned": "2017-12-22T14:54:13.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011858", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040509" }, "publicationId": "PMID:17110937" }, "phenotypeStatement": "Reduced factor IX activity", "dateAssigned": "2017-12-22T14:54:13.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000842", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601430" }, "publicationId": "PMID:15472174" }, "phenotypeStatement": "Hyperinsulinemia", "dateAssigned": "2020-08-10T16:01:28.000-05:00", "objectId": "HGNC:9201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071447" }, "publicationId": "PMID:17705025" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2020-02-19T14:12:24.000-06:00", "objectId": "HGNC:9725" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21079734" }, "publicationId": "PMID:21646031" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2020-02-19T14:17:25.000-06:00", "objectId": "HGNC:9725" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21079734" }, "publicationId": "PMID:21646031" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2020-02-19T14:17:25.000-06:00", "objectId": "HGNC:9725" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9587485" }, "publicationId": "PMID:22072270" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2018-05-22T14:07:42.000-05:00", "objectId": "HGNC:17071" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38456010" }, "publicationId": "PMID:23096047" }, "phenotypeStatement": "Depression", "dateAssigned": "2020-08-10T17:38:09.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15014793" }, "publicationId": "PMID:22135187" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2019-11-15T12:14:16.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15014793" }, "publicationId": "PMID:22135187" }, "phenotypeStatement": "Reduced circulating C-reactive protein concecntration", "dateAssigned": "2019-11-15T12:14:16.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012078", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147579" }, "publicationId": "PMID:20211906" }, "phenotypeStatement": "Motor conduction block", "dateAssigned": "2019-02-28T12:35:27.000-06:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340677" }, "publicationId": "PMID:31784499" }, "phenotypeStatement": "Eczematoid dermatitis", "dateAssigned": "2021-08-26T14:50:37.000-05:00", "objectId": "HGNC:6881" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011227", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39939049" }, "publicationId": "PMID:25751776" }, "phenotypeStatement": "Elevated circulating C-reactive protein concentration", "dateAssigned": "2020-12-13T22:09:24.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025569", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411694" }, "publicationId": "PMID:22232432" }, "phenotypeStatement": "Polypoidal choroidal vasculopathy", "dateAssigned": "2019-02-28T13:11:05.000-06:00", "objectId": "HGNC:1248" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411726" }, "publicationId": "PMID:18515590" }, "phenotypeStatement": "Abnormal morphology of the choroidal vasculature", "dateAssigned": "2019-02-28T14:16:43.000-06:00", "objectId": "HGNC:4883" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007797", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483573" }, "publicationId": "PMID:8932997" }, "phenotypeStatement": "Developmental retinal vascular malformation", "dateAssigned": "2018-02-21T17:50:54.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483573" }, "publicationId": "PMID:8932997" }, "phenotypeStatement": "Retinal hemorrhage", "dateAssigned": "2018-02-21T17:50:54.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000853", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483569" }, "publicationId": "PMID:8157715" }, "phenotypeStatement": "Goiter", "dateAssigned": "2018-02-22T15:18:55.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38456009" }, "publicationId": "PMID:15812265" }, "phenotypeStatement": "Depression", "dateAssigned": "2020-08-10T16:28:48.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003162", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1642723" }, "publicationId": "PMID:15150650" }, "phenotypeStatement": "Fasting hypoglycemia", "dateAssigned": "2018-02-08T17:06:44.000-06:00", "objectId": "HGNC:9670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657073" }, "publicationId": "PMID:22705826" }, "phenotypeStatement": "Genital ulcers", "dateAssigned": "2016-09-13T09:23:40.000-05:00", "objectId": "HGNC:40" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9835387" }, "publicationId": "PMID:14593429" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2016-09-12T16:34:35.000-05:00", "objectId": "HGNC:16626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008669", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11039404" }, "publicationId": "PMID:24661730" }, "phenotypeStatement": "Abnormal spermatogenesis", "dateAssigned": "2016-09-12T17:37:55.000-05:00", "objectId": "HGNC:10788" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15042858" }, "publicationId": "PMID:11051375" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2019-12-12T09:52:22.000-06:00", "objectId": "HGNC:404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100001", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429641" }, "publicationId": "PMID:27834213" }, "phenotypeStatement": "Malignant mesothelioma", "dateAssigned": "2021-09-10T12:20:20.000-05:00", "objectId": "HGNC:18420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001367", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364930" }, "publicationId": "PMID:10648455" }, "phenotypeStatement": "Abnormal joint morphology", "dateAssigned": "2018-02-05T13:13:46.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15036797" }, "publicationId": "PMID:29935355" }, "phenotypeStatement": "Hepatic fibrosis", "dateAssigned": "2019-11-15T13:51:46.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030783", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450871" }, "publicationId": "PMID:21435719" }, "phenotypeStatement": "Increased circulating interleukin 6 concentration", "dateAssigned": "2018-06-01T11:58:07.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000010", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340677" }, "publicationId": "PMID:31784499" }, "phenotypeStatement": "Recurrent urinary tract infections", "dateAssigned": "2021-08-26T14:50:29.000-05:00", "objectId": "HGNC:6881" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429796" }, "publicationId": "PMID:27601657" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-09-29T11:29:10.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429797" }, "publicationId": "PMID:30093645" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2021-09-29T11:37:02.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429802" }, "publicationId": "PMID:21310144" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-09-29T20:26:31.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011893", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11522718" }, "publicationId": "PMID:20368543" }, "phenotypeStatement": "Abnormal leukocyte count", "dateAssigned": "2016-08-04T13:54:17.000-05:00", "objectId": "HGNC:5383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893474" }, "publicationId": "PMID:21489764" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2017-12-11T17:43:01.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007634", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548899" }, "publicationId": "PMID:21633717" }, "phenotypeStatement": "Nonarteritic anterior ischemic optic neuropathy", "dateAssigned": "2019-08-08T15:55:46.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800704" }, "publicationId": "PMID:17306754" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2019-08-08T15:08:09.000-05:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10769331" }, "publicationId": "PMID:15388579" }, "phenotypeStatement": "Increased total bilirubin", "dateAssigned": "2018-01-19T13:52:07.000-06:00", "objectId": "HGNC:12530" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340677" }, "publicationId": "PMID:31784499" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2021-08-26T14:50:46.000-05:00", "objectId": "HGNC:6881" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008981", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11532686" }, "publicationId": "PMID:16575835" }, "phenotypeStatement": "Calf muscle hypertrophy", "dateAssigned": "2016-09-02T17:39:52.000-05:00", "objectId": "HGNC:9202" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11532686" }, "publicationId": "PMID:16575835" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2016-09-02T17:39:52.000-05:00", "objectId": "HGNC:9202" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11532686" }, "publicationId": "PMID:16575835" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2016-09-02T17:39:52.000-05:00", "objectId": "HGNC:9202" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000559", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657032" }, "publicationId": "PMID:18626569" }, "phenotypeStatement": "Corneal scarring", "dateAssigned": "2018-04-13T17:40:42.000-05:00", "objectId": "HGNC:12723" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200032", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657032" }, "publicationId": "PMID:18626569" }, "phenotypeStatement": "Kayser-Fleischer ring", "dateAssigned": "2018-04-13T17:40:42.000-05:00", "objectId": "HGNC:12723" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000539", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657032" }, "publicationId": "PMID:18626569" }, "phenotypeStatement": "Abnormality of refraction", "dateAssigned": "2018-04-13T17:40:42.000-05:00", "objectId": "HGNC:12723" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200032", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657034" }, "publicationId": "PMID:15623752" }, "phenotypeStatement": "Kayser-Fleischer ring", "dateAssigned": "2018-04-13T17:50:03.000-05:00", "objectId": "HGNC:12723" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011492", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657034" }, "publicationId": "PMID:15623752" }, "phenotypeStatement": "Abnormal corneal stroma morphology", "dateAssigned": "2018-04-13T17:50:03.000-05:00", "objectId": "HGNC:12723" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551870" }, "publicationId": "PMID:19862335" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-03-30T12:23:34.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551870" }, "publicationId": "PMID:19862335" }, "phenotypeStatement": "Abnormal lens morphology", "dateAssigned": "2018-03-30T12:23:34.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012043", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551870" }, "publicationId": "PMID:19862335" }, "phenotypeStatement": "Pendular nystagmus", "dateAssigned": "2018-03-30T12:23:34.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11522718" }, "publicationId": "PMID:20368543" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2016-08-04T13:50:06.000-05:00", "objectId": "HGNC:5382" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001882", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10766474" }, "publicationId": "PMID:22009189" }, "phenotypeStatement": "Decreased total leukocyte count", "dateAssigned": "2019-03-11T12:25:38.000-05:00", "objectId": "HGNC:6176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001875", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449407" }, "publicationId": "PMID:21644011" }, "phenotypeStatement": "Decreased total neutrophil count", "dateAssigned": "2019-03-11T15:18:29.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449407" }, "publicationId": "PMID:21644011" }, "phenotypeStatement": "Thrombocytopenia", "dateAssigned": "2019-03-11T15:18:29.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001653", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Mitral regurgitation", "dateAssigned": "2019-06-21T11:50:36.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001659", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Aortic regurgitation", "dateAssigned": "2019-06-21T11:50:36.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003540", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040528" }, "publicationId": "PMID:9116284" }, "phenotypeStatement": "Impaired platelet aggregation", "dateAssigned": "2017-12-22T13:00:31.000-06:00", "objectId": "HGNC:4440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040528" }, "publicationId": "PMID:9116284" }, "phenotypeStatement": "Giant platelets", "dateAssigned": "2017-12-22T13:00:31.000-06:00", "objectId": "HGNC:4440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030134", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040528" }, "publicationId": "PMID:9116284" }, "phenotypeStatement": "Total absence von Willebrand factor multimers", "dateAssigned": "2017-12-22T13:00:31.000-06:00", "objectId": "HGNC:4440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537392" }, "publicationId": "PMID:25769375" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2016-10-04T11:31:30.000-05:00", "objectId": "HGNC:29203" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001260", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537393" }, "publicationId": "PMID:20797691" }, "phenotypeStatement": "Dysarthria", "dateAssigned": "2016-10-04T11:50:06.000-05:00", "objectId": "HGNC:29203" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537393" }, "publicationId": "PMID:20797691" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2016-10-04T11:50:06.000-05:00", "objectId": "HGNC:29203" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002538", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537393" }, "publicationId": "PMID:20797691" }, "phenotypeStatement": "Abnormal cerebral cortex morphology", "dateAssigned": "2016-10-04T11:50:06.000-05:00", "objectId": "HGNC:29203" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002366", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655873" }, "publicationId": "PMID:10809943" }, "phenotypeStatement": "Abnormal lower motor neuron morphology", "dateAssigned": "2018-04-13T13:37:54.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002127", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655873" }, "publicationId": "PMID:10809943" }, "phenotypeStatement": "Abnormal upper motor neuron morphology", "dateAssigned": "2018-04-13T13:37:54.000-05:00", "objectId": "HGNC:11179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002925", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483569" }, "publicationId": "PMID:8157715" }, "phenotypeStatement": "Elevated circulating thyroid-stimulating hormone concentration", "dateAssigned": "2018-02-22T15:18:55.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001033", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15042861" }, "publicationId": "PMID:9194910" }, "phenotypeStatement": "Facial flushing after alcohol intake", "dateAssigned": "2019-12-12T10:16:55.000-06:00", "objectId": "HGNC:404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030878", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429784" }, "publicationId": "PMID:28522810" }, "phenotypeStatement": "Abnormality on pulmonary function testing", "dateAssigned": "2021-09-29T08:19:21.000-05:00", "objectId": "HGNC:6693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000298", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588484" }, "publicationId": "PMID:22077973" }, "phenotypeStatement": "Mask-like facies", "dateAssigned": "2018-05-25T17:00:51.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588484" }, "publicationId": "PMID:22077973" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2018-05-25T17:00:51.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588484" }, "publicationId": "PMID:22077973" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2018-05-25T17:00:51.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588484" }, "publicationId": "PMID:22077973" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2018-05-25T17:00:51.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000164", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588484" }, "publicationId": "PMID:22077973" }, "phenotypeStatement": "Abnormality of the dentition", "dateAssigned": "2018-05-25T17:00:51.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1559325" }, "publicationId": "PMID:9126344" }, "phenotypeStatement": "Arterial stenosis", "dateAssigned": "2018-02-05T12:20:45.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011355", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365090" }, "publicationId": "PMID:23692434" }, "phenotypeStatement": "Localized skin lesion", "dateAssigned": "2018-02-05T16:15:07.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14390074" }, "publicationId": "PMID:22496743" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "2019-02-18T15:17:42.000-06:00", "objectId": "HGNC:457" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14390074" }, "publicationId": "PMID:22496743" }, "phenotypeStatement": "Tall stature", "dateAssigned": "2019-02-18T15:17:42.000-06:00", "objectId": "HGNC:457" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004361", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14390074" }, "publicationId": "PMID:22496743" }, "phenotypeStatement": "Abnormal circulating leptin concentration", "dateAssigned": "2019-02-18T15:17:43.000-06:00", "objectId": "HGNC:457" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031609", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491395" }, "publicationId": "PMID:22816662" }, "phenotypeStatement": "Macular geographic atrophy", "dateAssigned": "2018-08-28T16:41:43.000-05:00", "objectId": "HGNC:2558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394724" }, "publicationId": "PMID:18164066" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-02-08T16:01:29.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11522718" }, "publicationId": "PMID:20368543" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2016-08-04T13:50:57.000-05:00", "objectId": "HGNC:5383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031700", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147921" }, "publicationId": "PMID:19965803" }, "phenotypeStatement": "Invasive parasitic infection", "dateAssigned": "2018-08-30T17:05:39.000-05:00", "objectId": "HGNC:3616" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508404" }, "publicationId": "PMID:21954089" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2019-02-13T17:28:57.000-06:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285539" }, "publicationId": "PMID:29879024" }, "phenotypeStatement": "Increased hepatitis B virus antibody level", "dateAssigned": "2021-06-22T08:36:23.000-05:00", "objectId": "HGNC:6005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031700", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11039486" }, "publicationId": "PMID:24116184" }, "phenotypeStatement": "Invasive parasitic infection", "dateAssigned": "2019-02-08T11:50:21.000-06:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000550", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552697" }, "publicationId": "PMID:20956273" }, "phenotypeStatement": "Undetectable electroretinogram", "dateAssigned": "2019-04-17T10:33:26.000-05:00", "objectId": "HGNC:2343" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025152", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552697" }, "publicationId": "PMID:20956273" }, "phenotypeStatement": "Poor visual behavior for age", "dateAssigned": "2019-04-17T10:33:26.000-05:00", "objectId": "HGNC:2343" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15042857" }, "publicationId": "PMID:26827895" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-12-12T09:48:19.000-06:00", "objectId": "HGNC:404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358562" }, "publicationId": "PMID:15016430" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2017-08-29T17:20:37.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15042864" }, "publicationId": "PMID:23550892" }, "phenotypeStatement": "Hepatic fibrosis", "dateAssigned": "2019-12-12T14:31:24.000-06:00", "objectId": "HGNC:404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11079202" }, "publicationId": "PMID:8839848" }, "phenotypeStatement": "Epistaxis", "dateAssigned": "2017-09-11T17:01:25.000-05:00", "objectId": "HGNC:12726" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11079202" }, "publicationId": "PMID:8839848" }, "phenotypeStatement": "Bruising susceptibility", "dateAssigned": "2017-09-11T17:01:25.000-05:00", "objectId": "HGNC:12726" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001934", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11079202" }, "publicationId": "PMID:8839848" }, "phenotypeStatement": "Persistent bleeding after trauma", "dateAssigned": "2017-09-11T17:01:25.000-05:00", "objectId": "HGNC:12726" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012147", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11079202" }, "publicationId": "PMID:8839848" }, "phenotypeStatement": "Reduced quantity of Von Willebrand factor", "dateAssigned": "2017-09-11T17:01:25.000-05:00", "objectId": "HGNC:12726" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11079202" }, "publicationId": "PMID:8839848" }, "phenotypeStatement": "Impaired ristocetin-induced platelet aggregation", "dateAssigned": "2017-09-11T17:01:25.000-05:00", "objectId": "HGNC:12726" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483569" }, "publicationId": "PMID:8157715" }, "phenotypeStatement": "Autoimmune antibody positivity", "dateAssigned": "2018-02-22T15:18:55.000-06:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002923", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484535" }, "publicationId": "PMID:15208781" }, "phenotypeStatement": "Rheumatoid factor positive", "dateAssigned": "2018-02-22T17:10:40.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004758", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7327227" }, "publicationId": "PMID:22422768" }, "phenotypeStatement": "Effort-induced polymorphic ventricular tachycardia", "dateAssigned": "2019-08-02T10:35:29.000-05:00", "objectId": "HGNC:12261" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003070", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801485" }, "publicationId": "PMID:10633130" }, "phenotypeStatement": "Elbow ankylosis", "dateAssigned": "2017-04-04T11:34:18.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011329", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12801485" }, "publicationId": "PMID:10633130" }, "phenotypeStatement": "Abnormality of cranial sutures", "dateAssigned": "2017-04-04T11:34:18.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0550003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12798510" }, "publicationId": "PMID:15135176" }, "phenotypeStatement": "Proximal scleroderma", "dateAssigned": "2018-02-27T15:40:33.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0550005", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12798510" }, "publicationId": "PMID:15135176" }, "phenotypeStatement": "Bilateral basilar pulmonary fibrosis", "dateAssigned": "2018-02-27T15:40:33.000-06:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031417", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4891493" }, "publicationId": "PMID:15580493" }, "phenotypeStatement": "Rhinorrhea", "dateAssigned": "2018-02-27T15:57:21.000-06:00", "objectId": "HGNC:10625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2313161" }, "publicationId": "PMID:16634992" }, "phenotypeStatement": "Hypoinsulinemia", "dateAssigned": "2018-02-05T11:27:25.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003162", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2313161" }, "publicationId": "PMID:16634992" }, "phenotypeStatement": "Fasting hypoglycemia", "dateAssigned": "2018-02-05T11:27:25.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2313161" }, "publicationId": "PMID:16634992" }, "phenotypeStatement": "Reduced C-peptide level", "dateAssigned": "2018-02-05T11:27:25.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2313161" }, "publicationId": "PMID:16634992" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2018-02-05T11:27:25.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2313161" }, "publicationId": "PMID:16634992" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2018-02-05T11:27:25.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2313161" }, "publicationId": "PMID:16634992" }, "phenotypeStatement": "Abnormal glucose homeostasis", "dateAssigned": "2018-02-05T11:27:25.000-06:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100533", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364926" }, "publicationId": "PMID:12198697" }, "phenotypeStatement": "Inflammatory abnormality of the eye", "dateAssigned": "2018-02-05T12:17:44.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100614", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147568" }, "publicationId": "PMID:21125283" }, "phenotypeStatement": "Myositis", "dateAssigned": "2019-08-12T15:17:01.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21066346" }, "publicationId": "PMID:23625533" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2020-02-25T15:27:22.000-06:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000952", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21066346" }, "publicationId": "PMID:23625533" }, "phenotypeStatement": "Jaundice", "dateAssigned": "2020-02-25T15:27:22.000-06:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910482" }, "publicationId": "PMID:23592911" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2017-06-15T12:37:12.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394764" }, "publicationId": "PMID:15043529" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2018-12-19T16:43:37.000-06:00", "objectId": "HGNC:3542" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000572", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394764" }, "publicationId": "PMID:15043529" }, "phenotypeStatement": "Visual loss", "dateAssigned": "2018-12-19T16:43:37.000-06:00", "objectId": "HGNC:3542" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394764" }, "publicationId": "PMID:15043529" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-12-19T16:43:37.000-06:00", "objectId": "HGNC:3542" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364939" }, "publicationId": "PMID:11426025" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2018-02-05T15:06:39.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025532", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364939" }, "publicationId": "PMID:11426025" }, "phenotypeStatement": "Positive pathergy test", "dateAssigned": "2018-02-05T15:06:39.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003549", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147801" }, "publicationId": "PMID:12559632" }, "phenotypeStatement": "Abnormality of connective tissue", "dateAssigned": "2019-08-20T15:50:35.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000572", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688732" }, "publicationId": "PMID:15838728" }, "phenotypeStatement": "Visual loss", "dateAssigned": "2018-12-12T13:09:44.000-06:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210792" }, "publicationId": "PMID:24859502" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2017-09-11T12:38:06.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210793" }, "publicationId": "PMID:19178954" }, "phenotypeStatement": "Decreased circulating calcifediol concentration", "dateAssigned": "2017-09-11T13:34:59.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14398746" }, "publicationId": "PMID:24139215" }, "phenotypeStatement": "Abnormal lymph node morphology", "dateAssigned": "2020-01-28T14:40:31.000-06:00", "objectId": "HGNC:1097" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552672" }, "publicationId": "PMID:19714363" }, "phenotypeStatement": "Abnormal corneal thickness", "dateAssigned": "2018-02-05T19:00:17.000-06:00", "objectId": "HGNC:2198" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011893", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:632527182" }, "publicationId": "PMID:22037903" }, "phenotypeStatement": "Abnormal leukocyte count", "dateAssigned": "2026-02-26T16:31:36.000-06:00", "objectId": "HGNC:4035" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886300" }, "publicationId": "PMID:25658540" }, "phenotypeStatement": "Viremia", "dateAssigned": "2020-12-06T22:49:38.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000479", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7365093" }, "publicationId": "PMID:24033735" }, "phenotypeStatement": "Abnormal retinal morphology", "dateAssigned": "2018-02-05T16:16:26.000-06:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001373", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791024" }, "publicationId": "PMID:27048506" }, "phenotypeStatement": "Joint dislocation", "dateAssigned": "2017-02-28T13:47:54.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000506", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791024" }, "publicationId": "PMID:27048506" }, "phenotypeStatement": "Telecanthus", "dateAssigned": "2017-02-28T13:47:54.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011220", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791024" }, "publicationId": "PMID:27048506" }, "phenotypeStatement": "Prominent forehead", "dateAssigned": "2017-02-28T13:47:54.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791024" }, "publicationId": "PMID:27048506" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2017-02-28T13:47:54.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001172", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791024" }, "publicationId": "PMID:27048506" }, "phenotypeStatement": "Abnormal thumb morphology", "dateAssigned": "2017-02-28T13:47:54.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001500", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791024" }, "publicationId": "PMID:27048506" }, "phenotypeStatement": "Broad finger", "dateAssigned": "2017-02-28T13:47:54.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062587" }, "publicationId": "PMID:15121796" }, "phenotypeStatement": "Multiple lentigines", "dateAssigned": "2017-02-09T14:31:13.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062587" }, "publicationId": "PMID:15121796" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "2017-02-09T14:31:13.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002605", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902620" }, "publicationId": "PMID:28704535" }, "phenotypeStatement": "Hepatic necrosis", "dateAssigned": "2020-12-09T17:14:42.000-06:00", "objectId": "HGNC:10050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483344" }, "publicationId": "PMID:16389193" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-07-18T13:05:15.000-05:00", "objectId": "HGNC:2158" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429788" }, "publicationId": "PMID:33836681" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2021-09-29T08:59:18.000-05:00", "objectId": "HGNC:6693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429790" }, "publicationId": "PMID:31693169" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2021-09-29T09:12:43.000-05:00", "objectId": "HGNC:6693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429794" }, "publicationId": "PMID:25109699" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-09-29T11:20:01.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11536957" }, "publicationId": "PMID:26449183" }, "phenotypeStatement": "Increased hepatitis B virus antibody level", "dateAssigned": "2021-09-29T11:21:58.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002605", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902620" }, "publicationId": "PMID:28704535" }, "phenotypeStatement": "Hepatic necrosis", "dateAssigned": "2020-12-09T17:01:51.000-06:00", "objectId": "HGNC:12440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031354", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902983" }, "publicationId": "PMID:25535857" }, "phenotypeStatement": "Sleep onset insomnia", "dateAssigned": "2020-12-18T23:15:02.000-06:00", "objectId": "HGNC:7794" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000842", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696694" }, "publicationId": "PMID:22215535" }, "phenotypeStatement": "Hyperinsulinemia", "dateAssigned": "2019-07-15T14:15:13.000-05:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696694" }, "publicationId": "PMID:22215535" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2019-07-15T14:15:13.000-05:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031793", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696694" }, "publicationId": "PMID:22215535" }, "phenotypeStatement": "Increased serum leptin", "dateAssigned": "2019-07-15T14:15:13.000-05:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696694" }, "publicationId": "PMID:22215535" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2019-07-15T14:15:13.000-05:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696694" }, "publicationId": "PMID:22215535" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2019-07-15T14:15:13.000-05:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405866374" }, "publicationId": "PMID:34285142" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2024-07-01T15:40:31.000-05:00", "objectId": "HGNC:23700" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6000023", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405866374" }, "publicationId": "PMID:34285142" }, "phenotypeStatement": "Lack of sufficient daily physical activity", "dateAssigned": "2024-07-01T15:40:31.000-05:00", "objectId": "HGNC:23700" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405866374" }, "publicationId": "PMID:34285142" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2024-07-01T15:42:08.000-05:00", "objectId": "HGNC:7656" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6000023", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405866374" }, "publicationId": "PMID:34285142" }, "phenotypeStatement": "Lack of sufficient daily physical activity", "dateAssigned": "2024-07-01T15:42:34.000-05:00", "objectId": "HGNC:7656" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007441", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073512" }, "publicationId": "PMID:25900779" }, "phenotypeStatement": "Hyperpigmented/hypopigmented macules", "dateAssigned": "2016-12-15T17:38:17.000-06:00", "objectId": "HGNC:12362" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533645" }, "publicationId": "PMID:26345518" }, "phenotypeStatement": "Reduced left ventricular ejection fraction", "dateAssigned": "2016-09-09T09:46:15.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001397", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696694" }, "publicationId": "PMID:22215535" }, "phenotypeStatement": "Hepatic steatosis", "dateAssigned": "2019-07-15T14:15:37.000-05:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002160", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696734" }, "publicationId": "PMID:22676358" }, "phenotypeStatement": "Hyperhomocystinemia", "dateAssigned": "2019-07-22T13:51:00.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001712", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901915" }, "publicationId": "PMID:21402901" }, "phenotypeStatement": "Left ventricular hypertrophy", "dateAssigned": "2023-06-28T13:11:00.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901919" }, "publicationId": "PMID:21622477" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2023-06-28T14:26:58.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041728" }, "publicationId": "PMID:23549446" }, "phenotypeStatement": "Amenorrhea", "dateAssigned": "2018-08-15T14:05:22.000-05:00", "objectId": "HGNC:17675" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008232", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041728" }, "publicationId": "PMID:23549446" }, "phenotypeStatement": "Elevated circulating follicle stimulating hormone level", "dateAssigned": "2018-08-15T14:05:22.000-05:00", "objectId": "HGNC:17675" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000077", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207877" }, "publicationId": "PMID:23049788" }, "phenotypeStatement": "Abnormality of the kidney", "dateAssigned": "2018-08-16T13:41:55.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207877" }, "publicationId": "PMID:23049788" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2018-08-16T13:41:55.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062720" }, "publicationId": "PMID:20101697" }, "phenotypeStatement": "Epistaxis", "dateAssigned": "2017-05-01T18:00:54.000-05:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429794" }, "publicationId": "PMID:25109699" }, "phenotypeStatement": "Increased hepatitis B virus antibody level", "dateAssigned": "2021-09-29T11:20:15.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003237", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429797" }, "publicationId": "PMID:30093645" }, "phenotypeStatement": "Increased circulating IgG concentration", "dateAssigned": "2021-09-29T11:37:33.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040328", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39131291" }, "publicationId": "PMID:18585932" }, "phenotypeStatement": "Focal hyperintensity of cerebral white matter on MRI", "dateAssigned": "2020-09-30T16:49:32.000-05:00", "objectId": "HGNC:7997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11053436" }, "publicationId": "PMID:25315662" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2017-02-28T09:42:17.000-06:00", "objectId": "HGNC:11411" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000729", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11053436" }, "publicationId": "PMID:25315662" }, "phenotypeStatement": "Autistic behavior", "dateAssigned": "2017-02-28T09:42:17.000-06:00", "objectId": "HGNC:11411" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000752", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11053436" }, "publicationId": "PMID:25315662" }, "phenotypeStatement": "Hyperactivity", "dateAssigned": "2017-02-28T09:42:17.000-06:00", "objectId": "HGNC:11411" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001762", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791024" }, "publicationId": "PMID:27048506" }, "phenotypeStatement": "Talipes equinovarus", "dateAssigned": "2017-02-28T13:47:54.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210583" }, "publicationId": "PMID:12960764" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2017-09-05T16:44:22.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210583" }, "publicationId": "PMID:12960764" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2017-09-05T16:44:22.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000752", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210583" }, "publicationId": "PMID:12960764" }, "phenotypeStatement": "Hyperactivity", "dateAssigned": "2017-09-05T16:44:22.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010865", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210583" }, "publicationId": "PMID:12960764" }, "phenotypeStatement": "Oppositional defiant disorder", "dateAssigned": "2017-09-05T16:44:22.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000023", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11576240" }, "publicationId": "PMID:1487249" }, "phenotypeStatement": "Inguinal hernia", "dateAssigned": "2016-12-30T15:41:41.000-06:00", "objectId": "HGNC:644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030357", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429733" }, "publicationId": "PMID:31199602" }, "phenotypeStatement": "Small cell lung carcinoma", "dateAssigned": "2021-09-22T13:24:52.000-05:00", "objectId": "HGNC:12637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:596933071" }, "publicationId": "PMID:21899794" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2024-12-10T16:17:50.000-06:00", "objectId": "HGNC:894" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547548" }, "publicationId": "PMID:15270786" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-03-16T13:00:31.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547548" }, "publicationId": "PMID:15270786" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2018-03-16T13:00:31.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000488", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547548" }, "publicationId": "PMID:15270786" }, "phenotypeStatement": "Retinopathy", "dateAssigned": "2018-03-16T13:00:31.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030604", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547551" }, "publicationId": "PMID:22956172" }, "phenotypeStatement": "Abnormal fundus fluorescein angiography", "dateAssigned": "2018-03-16T15:26:12.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030603", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547551" }, "publicationId": "PMID:22956172" }, "phenotypeStatement": "Abnormal optical coherence tomography", "dateAssigned": "2018-03-16T15:26:12.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030534", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547551" }, "publicationId": "PMID:22956172" }, "phenotypeStatement": "Abnormal best corrected visual acuity test", "dateAssigned": "2018-03-16T15:26:12.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100614", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147629" }, "publicationId": "PMID:17586554" }, "phenotypeStatement": "Myositis", "dateAssigned": "2019-08-12T15:41:33.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657118" }, "publicationId": "PMID:12112111" }, "phenotypeStatement": "Leber optic atrophy", "dateAssigned": "2019-08-12T16:18:34.000-05:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100766", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8963167" }, "publicationId": "PMID:22037783" }, "phenotypeStatement": "Abnormal lymphatic vessel morphology", "dateAssigned": "2019-08-20T13:50:13.000-05:00", "objectId": "HGNC:2095" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207881" }, "publicationId": "PMID:18516230" }, "phenotypeStatement": "Systemic lupus erythematosus", "dateAssigned": "2019-08-20T14:38:03.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030329", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:596948406" }, "publicationId": "PMID:22661486" }, "phenotypeStatement": "Retinal thinning on OCT", "dateAssigned": "2025-01-09T09:40:34.000-06:00", "objectId": "HGNC:17941" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012758", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12879473" }, "publicationId": "PMID:20382060" }, "phenotypeStatement": "Neurodevelopmental delay", "dateAssigned": "2017-04-21T13:14:13.000-05:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12879473" }, "publicationId": "PMID:20382060" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2017-04-21T13:14:13.000-05:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12879473" }, "publicationId": "PMID:20382060" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2017-04-21T13:14:13.000-05:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11536957" }, "publicationId": "PMID:26449183" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-09-29T11:23:11.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006979", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358557" }, "publicationId": "PMID:11306557" }, "phenotypeStatement": "Sleep-wake cycle disturbance", "dateAssigned": "2017-08-29T17:07:57.000-05:00", "objectId": "HGNC:8847" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012384", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5143945" }, "publicationId": "PMID:20088379" }, "phenotypeStatement": "Rhinitis", "dateAssigned": "2019-08-21T17:07:57.000-05:00", "objectId": "HGNC:2625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207877" }, "publicationId": "PMID:23049788" }, "phenotypeStatement": "Systemic lupus erythematosus", "dateAssigned": "2019-08-20T14:47:58.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062391" }, "publicationId": "PMID:15520399" }, "phenotypeStatement": "Multiple lentigines", "dateAssigned": "2017-02-09T14:27:09.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210783" }, "publicationId": "PMID:24078159" }, "phenotypeStatement": "Obesity", "dateAssigned": "2017-09-08T15:38:17.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285359" }, "publicationId": "PMID:25892873" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-06-17T09:15:38.000-05:00", "objectId": "HGNC:6005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032444", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285550" }, "publicationId": "PMID:23656167" }, "phenotypeStatement": "Status post organ transplantation", "dateAssigned": "2021-06-22T10:11:08.000-05:00", "objectId": "HGNC:6005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0430037", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405849279" }, "publicationId": "PMID:19500157" }, "phenotypeStatement": "Abnormal alcohol consumption", "dateAssigned": "2024-05-21T13:06:29.000-05:00", "objectId": "HGNC:1963" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410338", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8549507" }, "publicationId": "PMID:18849614" }, "phenotypeStatement": "Plant product allergy", "dateAssigned": "2019-04-15T14:19:23.000-05:00", "objectId": "HGNC:5973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210778" }, "publicationId": "PMID:24246681" }, "phenotypeStatement": "Elevated circulating alkaline phosphatase concentration", "dateAssigned": "2017-09-08T10:53:58.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210778" }, "publicationId": "PMID:24246681" }, "phenotypeStatement": "Abnormality of vitamin D metabolism", "dateAssigned": "2017-09-08T10:53:58.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002901", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210778" }, "publicationId": "PMID:24246681" }, "phenotypeStatement": "Hypocalcemia", "dateAssigned": "2017-09-08T10:53:58.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210778" }, "publicationId": "PMID:24246681" }, "phenotypeStatement": "Hyperparathyroidism", "dateAssigned": "2017-09-08T10:53:58.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242927" }, "publicationId": "PMID:22396660" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2018-02-09T13:00:23.000-06:00", "objectId": "HGNC:9996" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000598", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535041" }, "publicationId": "PMID:20624498" }, "phenotypeStatement": "Abnormality of the ear", "dateAssigned": "2016-09-19T18:26:46.000-05:00", "objectId": "HGNC:20626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001522", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10411884" }, "publicationId": "PMID:16385454" }, "phenotypeStatement": "Death in infancy", "dateAssigned": "2018-07-30T14:56:51.000-05:00", "objectId": "HGNC:5213" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002910", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15014792" }, "publicationId": "PMID:19194663" }, "phenotypeStatement": "Elevated circulating hepatic transaminase concentration", "dateAssigned": "2019-11-19T15:31:45.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15014792" }, "publicationId": "PMID:19194663" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2019-11-19T15:31:45.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:737738" }, "publicationId": "PMID:12393616" }, "phenotypeStatement": "Increased total leukocyte count", "dateAssigned": "2019-11-21T14:32:00.000-06:00", "objectId": "HGNC:12663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002160", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449421" }, "publicationId": "PMID:24250697" }, "phenotypeStatement": "Hyperhomocystinemia", "dateAssigned": "2019-04-16T17:28:26.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002715", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207877" }, "publicationId": "PMID:23049788" }, "phenotypeStatement": "Abnormality of the immune system", "dateAssigned": "2018-08-16T13:41:55.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10427727" }, "publicationId": "PMID:20574532" }, "phenotypeStatement": "Cotton wool plaques", "dateAssigned": "2019-10-11T15:02:57.000-05:00", "objectId": "HGNC:24840" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002185", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10427727" }, "publicationId": "PMID:20574532" }, "phenotypeStatement": "Neurofibrillary tangles", "dateAssigned": "2019-10-11T15:26:26.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10427727" }, "publicationId": "PMID:20574532" }, "phenotypeStatement": "Senile plaques", "dateAssigned": "2019-10-11T15:26:26.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10427727" }, "publicationId": "PMID:20574532" }, "phenotypeStatement": "Cotton wool plaques", "dateAssigned": "2019-10-11T15:26:26.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588233" }, "publicationId": "PMID:25151357" }, "phenotypeStatement": "Esophageal neoplasm", "dateAssigned": "2021-09-22T13:11:33.000-05:00", "objectId": "HGNC:12637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285359" }, "publicationId": "PMID:25892873" }, "phenotypeStatement": "Chronic hepatitis", "dateAssigned": "2021-06-17T09:16:19.000-05:00", "objectId": "HGNC:6005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553629" }, "publicationId": "PMID:26197724" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-09-29T11:16:22.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429796" }, "publicationId": "PMID:27601657" }, "phenotypeStatement": "Viremia", "dateAssigned": "2021-09-29T11:29:02.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030605", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394751" }, "publicationId": "PMID:23326481" }, "phenotypeStatement": "Abnormal indocyanine green angiography", "dateAssigned": "2018-02-09T13:50:15.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000502", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657375" }, "publicationId": "PMID:14716324" }, "phenotypeStatement": "Abnormal conjunctiva morphology", "dateAssigned": "2019-04-03T13:58:44.000-05:00", "objectId": "HGNC:8125" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012153", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580470" }, "publicationId": "PMID:14691581" }, "phenotypeStatement": "Hypotriglyceridemia", "dateAssigned": "2018-02-09T18:03:53.000-06:00", "objectId": "HGNC:5013" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410241", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:632518351" }, "publicationId": "PMID:15990792" }, "phenotypeStatement": "Abnormal circulating IgE concentration", "dateAssigned": "2026-02-05T13:43:11.000-06:00", "objectId": "HGNC:16390" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031528", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394745" }, "publicationId": "PMID:22893068" }, "phenotypeStatement": "Subretinal deposits", "dateAssigned": "2018-02-09T13:01:31.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285539" }, "publicationId": "PMID:29879024" }, "phenotypeStatement": "Abnormal circulating interleukin concentration", "dateAssigned": "2021-06-22T08:36:49.000-05:00", "objectId": "HGNC:6005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011118", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450871" }, "publicationId": "PMID:21435719" }, "phenotypeStatement": "Abnormality of tumor necrosis factor secretion", "dateAssigned": "2018-06-01T11:51:34.000-05:00", "objectId": "HGNC:12680" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285353" }, "publicationId": "PMID:23354321" }, "phenotypeStatement": "Chronic hepatitis", "dateAssigned": "2021-06-17T08:42:26.000-05:00", "objectId": "HGNC:6005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147615" }, "publicationId": "PMID:19127454" }, "phenotypeStatement": "Myocarditis", "dateAssigned": "2019-08-12T16:43:12.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14392796" }, "publicationId": "PMID:12067277" }, "phenotypeStatement": "Myeloid leukemia", "dateAssigned": "2019-08-21T14:20:13.000-05:00", "objectId": "HGNC:1014" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147804" }, "publicationId": "PMID:12373032" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2019-09-30T15:43:23.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:3000033", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429732" }, "publicationId": "PMID:23685749" }, "phenotypeStatement": "Abnormal nasopharyngeal adenoid morphology", "dateAssigned": "2021-09-22T13:22:17.000-05:00", "objectId": "HGNC:12637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508720" }, "publicationId": "PMID:21943069" }, "phenotypeStatement": "Abnormal respiratory system physiology", "dateAssigned": "2019-04-03T15:16:34.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147999" }, "publicationId": "PMID:18679149" }, "phenotypeStatement": "Increased total leukocyte count", "dateAssigned": "2018-09-06T11:46:34.000-05:00", "objectId": "HGNC:243" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011227", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147999" }, "publicationId": "PMID:18679149" }, "phenotypeStatement": "Elevated circulating C-reactive protein concentration", "dateAssigned": "2018-09-06T11:46:34.000-05:00", "objectId": "HGNC:243" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12911226" }, "publicationId": "PMID:25265257" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2017-07-10T14:25:55.000-05:00", "objectId": "HGNC:888" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12911226" }, "publicationId": "PMID:25265257" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2017-07-10T14:25:55.000-05:00", "objectId": "HGNC:888" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9686430" }, "publicationId": "PMID:23596459" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2016-09-12T15:07:41.000-05:00", "objectId": "HGNC:6297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9590163" }, "publicationId": "PMID:23055267" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2016-09-12T16:52:52.000-05:00", "objectId": "HGNC:10761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11565126" }, "publicationId": "PMID:15654694" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2016-11-21T15:14:47.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011506", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411694" }, "publicationId": "PMID:22232432" }, "phenotypeStatement": "Choroidal neovascularization", "dateAssigned": "2018-08-21T17:25:07.000-05:00", "objectId": "HGNC:1248" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411713" }, "publicationId": "PMID:18806293" }, "phenotypeStatement": "Drusen", "dateAssigned": "2018-08-21T17:33:37.000-05:00", "objectId": "HGNC:1248" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000381", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8157627" }, "publicationId": "PMID:23639864" }, "phenotypeStatement": "Stapes ankylosis", "dateAssigned": "2019-02-05T13:11:51.000-06:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011001", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10043309" }, "publicationId": "PMID:18484228" }, "phenotypeStatement": "Increased bone mineral density", "dateAssigned": "2015-05-20T13:22:18.000-05:00", "objectId": "HGNC:644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21079464" }, "publicationId": "PMID:22530350" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2020-02-18T14:16:39.000-06:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14398733" }, "publicationId": "PMID:25788203" }, "phenotypeStatement": "Viremia", "dateAssigned": "2019-04-24T13:49:51.000-05:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000842", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:632522754" }, "publicationId": "PMID:19574727" }, "phenotypeStatement": "Hyperinsulinemia", "dateAssigned": "2026-02-20T10:51:00.000-06:00", "objectId": "HGNC:6081" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200283", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:632522754" }, "publicationId": "PMID:19574727" }, "phenotypeStatement": "Sleep-related breathing disorders", "dateAssigned": "2026-02-20T10:51:00.000-06:00", "objectId": "HGNC:6081" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032933", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4891923" }, "publicationId": "PMID:17702965" }, "phenotypeStatement": "Airway hyperresponsiveness", "dateAssigned": "2026-02-12T15:45:40.000-06:00", "objectId": "HGNC:17024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410367", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15036793" }, "publicationId": "PMID:29558945" }, "phenotypeStatement": "Increased hepatitis A virus antibody level", "dateAssigned": "2019-11-15T12:26:06.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10427727" }, "publicationId": "PMID:20574532" }, "phenotypeStatement": "Senile plaques", "dateAssigned": "2019-10-11T14:59:23.000-05:00", "objectId": "HGNC:8724" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21079734" }, "publicationId": "PMID:21646031" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2020-02-19T14:16:44.000-06:00", "objectId": "HGNC:9725" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012405", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13210762" }, "publicationId": "PMID:12542560" }, "phenotypeStatement": "Hypocitraturia", "dateAssigned": "2017-09-06T16:44:43.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429795" }, "publicationId": "PMID:22884298" }, "phenotypeStatement": "Myelitis", "dateAssigned": "2021-09-29T11:25:20.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100614", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147629" }, "publicationId": "PMID:17586554" }, "phenotypeStatement": "Myositis", "dateAssigned": "2019-08-12T15:21:58.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8157620" }, "publicationId": "PMID:21897619" }, "phenotypeStatement": "Myopia", "dateAssigned": "2019-08-12T15:48:59.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5686339" }, "publicationId": "PMID:19394449" }, "phenotypeStatement": "Leber optic atrophy", "dateAssigned": "2019-08-12T16:05:09.000-05:00", "objectId": "HGNC:7460" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003493", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429797" }, "publicationId": "PMID:30093645" }, "phenotypeStatement": "Antinuclear antibody positivity", "dateAssigned": "2021-09-29T11:36:30.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429807" }, "publicationId": "PMID:22737229" }, "phenotypeStatement": "Increased hepatitis B virus antibody level", "dateAssigned": "2021-09-29T20:37:10.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429797" }, "publicationId": "PMID:30093645" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2021-09-29T11:36:55.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537473" }, "publicationId": "PMID:26577670" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2016-10-05T13:52:02.000-05:00", "objectId": "HGNC:24502" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001339", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537473" }, "publicationId": "PMID:26577670" }, "phenotypeStatement": "Lissencephaly", "dateAssigned": "2016-10-05T13:52:02.000-05:00", "objectId": "HGNC:24502" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14695549" }, "publicationId": "PMID:11851840" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2019-07-08T16:23:28.000-05:00", "objectId": "HGNC:4056" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791031" }, "publicationId": "PMID:12927431" }, "phenotypeStatement": "Thickened skin", "dateAssigned": "2017-02-28T15:23:24.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791031" }, "publicationId": "PMID:12927431" }, "phenotypeStatement": "Sparse scalp hair", "dateAssigned": "2017-02-28T15:23:24.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791031" }, "publicationId": "PMID:12927431" }, "phenotypeStatement": "Premature graying of hair", "dateAssigned": "2017-02-28T15:23:24.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340581" }, "publicationId": "PMID:22958291" }, "phenotypeStatement": "Lymphadenopathy", "dateAssigned": "2021-08-17T08:51:19.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003690", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062274" }, "publicationId": "PMID:10814726" }, "phenotypeStatement": "Limb muscle weakness", "dateAssigned": "2017-03-02T14:02:05.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000336", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11063279" }, "publicationId": "PMID:16835913" }, "phenotypeStatement": "Prominent supraorbital ridges", "dateAssigned": "2016-11-21T17:01:38.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11063279" }, "publicationId": "PMID:16835913" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2016-11-21T17:01:38.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002694", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11063279" }, "publicationId": "PMID:16835913" }, "phenotypeStatement": "Sclerosis of skull base", "dateAssigned": "2016-11-21T17:01:38.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207155" }, "publicationId": "PMID:17598818" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2018-09-07T11:23:39.000-05:00", "objectId": "HGNC:20389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207155" }, "publicationId": "PMID:17598818" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2018-09-07T11:23:39.000-05:00", "objectId": "HGNC:20389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207155" }, "publicationId": "PMID:17598818" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2018-09-07T11:23:39.000-05:00", "objectId": "HGNC:20389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031798", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207155" }, "publicationId": "PMID:17598818" }, "phenotypeStatement": "Elevated circulating apolipoprotein B concentration", "dateAssigned": "2018-09-07T11:23:39.000-05:00", "objectId": "HGNC:20389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006695", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535046" }, "publicationId": "PMID:23677905" }, "phenotypeStatement": "Atrioventricular canal defect", "dateAssigned": "2016-09-20T11:23:55.000-05:00", "objectId": "HGNC:20626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001710", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535046" }, "publicationId": "PMID:23677905" }, "phenotypeStatement": "Conotruncal defect", "dateAssigned": "2016-09-20T11:23:55.000-05:00", "objectId": "HGNC:20626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535046" }, "publicationId": "PMID:23677905" }, "phenotypeStatement": "Patent ductus arteriosus", "dateAssigned": "2016-09-20T11:23:55.000-05:00", "objectId": "HGNC:20626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002206", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429642" }, "publicationId": "PMID:33533494" }, "phenotypeStatement": "Pulmonary fibrosis", "dateAssigned": "2021-09-10T12:28:05.000-05:00", "objectId": "HGNC:18420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285363" }, "publicationId": "PMID:23236436" }, "phenotypeStatement": "Systemic lupus erythematosus", "dateAssigned": "2021-06-17T09:58:39.000-05:00", "objectId": "HGNC:6005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490259" }, "publicationId": "PMID:18708297" }, "phenotypeStatement": "Systemic lupus erythematosus", "dateAssigned": "2019-08-20T14:59:00.000-05:00", "objectId": "HGNC:7414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207869" }, "publicationId": "PMID:22729903" }, "phenotypeStatement": "Systemic lupus erythematosus", "dateAssigned": "2019-08-20T14:48:58.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003473", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147855" }, "publicationId": "PMID:10593018" }, "phenotypeStatement": "Fatigable weakness", "dateAssigned": "2019-08-21T13:24:24.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429794" }, "publicationId": "PMID:25109699" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2021-09-29T11:20:07.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207155" }, "publicationId": "PMID:17598818" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2018-09-07T11:23:39.000-05:00", "objectId": "HGNC:20389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551811" }, "publicationId": "PMID:17672867" }, "phenotypeStatement": "Fever", "dateAssigned": "2018-09-07T13:38:28.000-05:00", "objectId": "HGNC:1606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535974" }, "publicationId": "PMID:12428212" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2016-09-27T10:50:07.000-05:00", "objectId": "HGNC:11199" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535974" }, "publicationId": "PMID:12428212" }, "phenotypeStatement": "Short stature", "dateAssigned": "2016-09-27T10:50:07.000-05:00", "objectId": "HGNC:11199" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285353" }, "publicationId": "PMID:23354321" }, "phenotypeStatement": "Abnormal circulating interleukin concentration", "dateAssigned": "2021-06-17T11:07:21.000-05:00", "objectId": "HGNC:6005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552301" }, "publicationId": "PMID:22550392" }, "phenotypeStatement": "Aplasia/Hypoplasia of the iris", "dateAssigned": "2016-09-07T11:52:50.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449398" }, "publicationId": "PMID:19923983" }, "phenotypeStatement": "Diarrhea", "dateAssigned": "2019-03-11T14:48:46.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001875", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449398" }, "publicationId": "PMID:19923983" }, "phenotypeStatement": "Decreased total neutrophil count", "dateAssigned": "2019-03-11T14:48:46.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002085", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535080" }, "publicationId": "PMID:26191240" }, "phenotypeStatement": "Occipital encephalocele", "dateAssigned": "2016-09-20T17:08:35.000-05:00", "objectId": "HGNC:28396" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535080" }, "publicationId": "PMID:26191240" }, "phenotypeStatement": "Cystic renal dysplasia", "dateAssigned": "2016-09-20T17:08:35.000-05:00", "objectId": "HGNC:28396" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551856" }, "publicationId": "PMID:23734086" }, "phenotypeStatement": "Aplasia/Hypoplasia of the iris", "dateAssigned": "2016-09-07T11:14:17.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551857" }, "publicationId": "PMID:22509105" }, "phenotypeStatement": "Aplasia/Hypoplasia of the iris", "dateAssigned": "2016-09-07T11:20:11.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535069" }, "publicationId": "PMID:18535205" }, "phenotypeStatement": "Anemia", "dateAssigned": "2016-09-20T15:49:11.000-05:00", "objectId": "HGNC:10345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535069" }, "publicationId": "PMID:18535205" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-20T15:49:11.000-05:00", "objectId": "HGNC:10345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535069" }, "publicationId": "PMID:18535205" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-20T15:49:11.000-05:00", "objectId": "HGNC:10345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535072" }, "publicationId": "PMID:22689679" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2016-09-20T16:29:32.000-05:00", "objectId": "HGNC:10345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535072" }, "publicationId": "PMID:22689679" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2016-09-20T16:29:32.000-05:00", "objectId": "HGNC:10345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893584" }, "publicationId": "PMID:17398378" }, "phenotypeStatement": "Abdominal aortic aneurysm", "dateAssigned": "2016-09-07T12:06:50.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006162", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684893" }, "publicationId": "PMID:12739037" }, "phenotypeStatement": "Soft tissue swelling of interphalangeal joints", "dateAssigned": "2016-09-07T14:38:51.000-05:00", "objectId": "HGNC:288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000988", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533999" }, "publicationId": "PMID:23950893" }, "phenotypeStatement": "Skin rash", "dateAssigned": "2016-09-14T15:45:03.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000077", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533999" }, "publicationId": "PMID:23950893" }, "phenotypeStatement": "Abnormality of the kidney", "dateAssigned": "2016-09-14T15:45:03.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533999" }, "publicationId": "PMID:23950893" }, "phenotypeStatement": "Arthritis", "dateAssigned": "2016-09-14T15:45:03.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002715", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533999" }, "publicationId": "PMID:23950893" }, "phenotypeStatement": "Abnormality of the immune system", "dateAssigned": "2016-09-14T15:45:03.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535072" }, "publicationId": "PMID:22689679" }, "phenotypeStatement": "Erythroid hypoplasia", "dateAssigned": "2016-09-20T16:01:01.000-05:00", "objectId": "HGNC:10345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012248", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8142351" }, "publicationId": "PMID:19648063" }, "phenotypeStatement": "Prolonged PR interval", "dateAssigned": "2016-09-07T16:29:47.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248606" }, "publicationId": "PMID:11431226" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2016-09-07T18:12:04.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000752", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248606" }, "publicationId": "PMID:11431226" }, "phenotypeStatement": "Hyperactivity", "dateAssigned": "2016-09-07T18:12:05.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010865", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248606" }, "publicationId": "PMID:11431226" }, "phenotypeStatement": "Oppositional defiant disorder", "dateAssigned": "2016-09-07T18:12:05.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248606" }, "publicationId": "PMID:11431226" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2016-09-07T18:12:05.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771564" }, "publicationId": "PMID:21114134" }, "phenotypeStatement": "Arterial stenosis", "dateAssigned": "2016-09-13T16:41:07.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775048" }, "publicationId": "PMID:15705632" }, "phenotypeStatement": "Genital ulcers", "dateAssigned": "2016-09-14T17:01:52.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775048" }, "publicationId": "PMID:15705632" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2016-09-14T17:01:52.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7775048" }, "publicationId": "PMID:15705632" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2016-09-14T17:01:52.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11534993" }, "publicationId": "PMID:24814845" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2016-09-16T12:21:46.000-05:00", "objectId": "HGNC:315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071511" }, "publicationId": "PMID:12872122" }, "phenotypeStatement": "Hepatic fibrosis", "dateAssigned": "2016-09-29T15:03:35.000-05:00", "objectId": "HGNC:7907" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001386", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1331681" }, "publicationId": "PMID:12509789" }, "phenotypeStatement": "Joint swelling", "dateAssigned": "2016-09-07T15:22:37.000-05:00", "objectId": "HGNC:7800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006162", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1331681" }, "publicationId": "PMID:12509789" }, "phenotypeStatement": "Soft tissue swelling of interphalangeal joints", "dateAssigned": "2016-09-07T15:22:37.000-05:00", "objectId": "HGNC:7800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1331681" }, "publicationId": "PMID:12509789" }, "phenotypeStatement": "Interphalangeal joint erosions", "dateAssigned": "2016-09-07T15:22:37.000-05:00", "objectId": "HGNC:7800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001387", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1331681" }, "publicationId": "PMID:12509789" }, "phenotypeStatement": "Joint stiffness", "dateAssigned": "2016-09-07T15:22:37.000-05:00", "objectId": "HGNC:7800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002923", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1331681" }, "publicationId": "PMID:12509789" }, "phenotypeStatement": "Rheumatoid factor positive", "dateAssigned": "2016-09-07T15:22:37.000-05:00", "objectId": "HGNC:7800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012443", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071487" }, "publicationId": "PMID:15236414" }, "phenotypeStatement": "Abnormal brain morphology", "dateAssigned": "2016-09-07T16:10:08.000-05:00", "objectId": "HGNC:19139" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012758", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071487" }, "publicationId": "PMID:15236414" }, "phenotypeStatement": "Neurodevelopmental delay", "dateAssigned": "2016-09-07T16:10:08.000-05:00", "objectId": "HGNC:19139" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248596" }, "publicationId": "PMID:17171658" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2016-09-07T18:01:10.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000752", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248596" }, "publicationId": "PMID:17171658" }, "phenotypeStatement": "Hyperactivity", "dateAssigned": "2016-09-07T18:01:10.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010865", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248596" }, "publicationId": "PMID:17171658" }, "phenotypeStatement": "Oppositional defiant disorder", "dateAssigned": "2016-09-07T18:01:10.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7248596" }, "publicationId": "PMID:17171658" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2016-09-07T18:01:10.000-05:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002164", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537345" }, "publicationId": "PMID:23238279" }, "phenotypeStatement": "Nail dysplasia", "dateAssigned": "2016-09-30T12:00:25.000-05:00", "objectId": "HGNC:10257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001204", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537345" }, "publicationId": "PMID:23238279" }, "phenotypeStatement": "Distal finger symphalangism", "dateAssigned": "2016-09-30T12:00:25.000-05:00", "objectId": "HGNC:10257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009835", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537345" }, "publicationId": "PMID:23238279" }, "phenotypeStatement": "Aplasia/Hypoplasia of the distal phalanges of the hand", "dateAssigned": "2016-09-30T12:00:25.000-05:00", "objectId": "HGNC:10257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364930" }, "publicationId": "PMID:10648455" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2016-09-13T17:17:53.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533923" }, "publicationId": "PMID:12649151" }, "phenotypeStatement": "Thrombocytopenia", "dateAssigned": "2016-09-12T12:25:27.000-05:00", "objectId": "HGNC:7579" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533923" }, "publicationId": "PMID:12649151" }, "phenotypeStatement": "Giant platelets", "dateAssigned": "2016-09-12T12:25:27.000-05:00", "objectId": "HGNC:7579" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158059" }, "publicationId": "PMID:19748964" }, "phenotypeStatement": "Recurrent aphthous stomatitis", "dateAssigned": "2016-09-13T16:04:59.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002105", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147561" }, "publicationId": "PMID:21569485" }, "phenotypeStatement": "Hemoptysis", "dateAssigned": "2016-09-16T11:27:20.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000790", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147561" }, "publicationId": "PMID:21569485" }, "phenotypeStatement": "Hematuria", "dateAssigned": "2016-09-16T11:27:20.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147561" }, "publicationId": "PMID:21569485" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2016-09-16T11:27:20.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006162", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588977" }, "publicationId": "PMID:20676650" }, "phenotypeStatement": "Soft tissue swelling of interphalangeal joints", "dateAssigned": "2016-09-07T14:58:34.000-05:00", "objectId": "HGNC:6919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588977" }, "publicationId": "PMID:20676650" }, "phenotypeStatement": "Interphalangeal joint erosions", "dateAssigned": "2016-09-07T14:58:34.000-05:00", "objectId": "HGNC:6919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001387", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588977" }, "publicationId": "PMID:20676650" }, "phenotypeStatement": "Joint stiffness", "dateAssigned": "2016-09-07T14:58:34.000-05:00", "objectId": "HGNC:6919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002923", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588977" }, "publicationId": "PMID:20676650" }, "phenotypeStatement": "Rheumatoid factor positive", "dateAssigned": "2016-09-07T14:58:34.000-05:00", "objectId": "HGNC:6919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011675", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829797" }, "publicationId": "PMID:23170137" }, "phenotypeStatement": "Arrhythmia", "dateAssigned": "2016-09-07T16:19:54.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002366", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5509900" }, "publicationId": "PMID:22055719" }, "phenotypeStatement": "Abnormal lower motor neuron morphology", "dateAssigned": "2016-09-15T17:25:18.000-05:00", "objectId": "HGNC:4010" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012219", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364930" }, "publicationId": "PMID:10648455" }, "phenotypeStatement": "Erythema nodosum", "dateAssigned": "2016-09-13T17:20:08.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548882" }, "publicationId": "PMID:19782713" }, "phenotypeStatement": "Genital ulcers", "dateAssigned": "2016-09-14T16:38:06.000-05:00", "objectId": "HGNC:10618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548882" }, "publicationId": "PMID:19782713" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2016-09-14T16:38:06.000-05:00", "objectId": "HGNC:10618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548882" }, "publicationId": "PMID:19782713" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2016-09-14T16:38:06.000-05:00", "objectId": "HGNC:10618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8551860" }, "publicationId": "PMID:22815628" }, "phenotypeStatement": "Aplasia/Hypoplasia of the iris", "dateAssigned": "2016-09-07T11:38:28.000-05:00", "objectId": "HGNC:8620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364939" }, "publicationId": "PMID:11426025" }, "phenotypeStatement": "Genital ulcers", "dateAssigned": "2016-09-13T12:15:22.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364939" }, "publicationId": "PMID:11426025" }, "phenotypeStatement": "Inflammatory abnormality of the skin", "dateAssigned": "2016-09-13T12:15:22.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771576" }, "publicationId": "PMID:11908569" }, "phenotypeStatement": "Genital ulcers", "dateAssigned": "2016-09-14T16:49:34.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771576" }, "publicationId": "PMID:11908569" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2016-09-14T16:49:34.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771576" }, "publicationId": "PMID:11908569" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2016-09-14T16:49:34.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001386", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364930" }, "publicationId": "PMID:10648455" }, "phenotypeStatement": "Joint swelling", "dateAssigned": "2016-09-13T17:17:05.000-05:00", "objectId": "HGNC:4932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10401636" }, "publicationId": "PMID:19016491" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2016-09-15T16:48:22.000-05:00", "objectId": "HGNC:4601" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401250" }, "publicationId": "PMID:22300950" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2016-09-15T16:37:41.000-05:00", "objectId": "HGNC:1248" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002846", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533998" }, "publicationId": "PMID:23287625" }, "phenotypeStatement": "Abnormal B cell morphology", "dateAssigned": "2016-09-14T14:39:19.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002160", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893579" }, "publicationId": "PMID:17899317" }, "phenotypeStatement": "Hyperhomocystinemia", "dateAssigned": "2016-09-07T15:54:28.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893579" }, "publicationId": "PMID:17899317" }, "phenotypeStatement": "Increased carotid artery intimal medial thickness", "dateAssigned": "2016-09-07T15:54:28.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535992" }, "publicationId": "PMID:21484596" }, "phenotypeStatement": "Deficit in nonword repetition", "dateAssigned": "2016-09-28T14:07:17.000-05:00", "objectId": "HGNC:13830" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012671", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535993" }, "publicationId": "PMID:20649982" }, "phenotypeStatement": "Abulia", "dateAssigned": "2016-09-28T14:13:10.000-05:00", "objectId": "HGNC:13875" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657048" }, "publicationId": "PMID:23791966" }, "phenotypeStatement": "Diabetes mellitus", "dateAssigned": "2019-04-16T17:00:40.000-05:00", "objectId": "HGNC:7166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657048" }, "publicationId": "PMID:23791966" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2019-04-16T17:00:40.000-05:00", "objectId": "HGNC:7166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657048" }, "publicationId": "PMID:23791966" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2019-04-16T17:00:40.000-05:00", "objectId": "HGNC:7166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657048" }, "publicationId": "PMID:23791966" }, "phenotypeStatement": "Retinal hemorrhage", "dateAssigned": "2019-04-16T17:00:40.000-05:00", "objectId": "HGNC:7166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657048" }, "publicationId": "PMID:23791966" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2019-04-16T17:00:40.000-05:00", "objectId": "HGNC:7166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483565" }, "publicationId": "PMID:23396137" }, "phenotypeStatement": "Genital ulcers", "dateAssigned": "2016-09-14T16:41:12.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483565" }, "publicationId": "PMID:23396137" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2016-09-14T16:41:12.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7483565" }, "publicationId": "PMID:23396137" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2016-09-14T16:41:12.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011893", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535045" }, "publicationId": "PMID:25204082" }, "phenotypeStatement": "Abnormal leukocyte count", "dateAssigned": "2016-09-20T11:24:28.000-05:00", "objectId": "HGNC:7989" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002483", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6892718" }, "publicationId": "PMID:16501576" }, "phenotypeStatement": "Bulbar signs", "dateAssigned": "2016-09-15T17:11:53.000-05:00", "objectId": "HGNC:483" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688729" }, "publicationId": "PMID:18423940" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2016-09-15T17:07:16.000-05:00", "objectId": "HGNC:4635" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011362", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484734" }, "publicationId": "PMID:16829308" }, "phenotypeStatement": "Abnormal hair quantity", "dateAssigned": "2016-09-16T15:23:44.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829810" }, "publicationId": "PMID:15961928" }, "phenotypeStatement": "Genital ulcers", "dateAssigned": "2016-09-14T16:30:37.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829810" }, "publicationId": "PMID:15961928" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2016-09-14T16:30:37.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829810" }, "publicationId": "PMID:15961928" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2016-09-14T16:30:37.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401250" }, "publicationId": "PMID:22300950" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2016-09-15T16:38:15.000-05:00", "objectId": "HGNC:1318" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001268", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600861" }, "publicationId": "PMID:16882736" }, "phenotypeStatement": "Mental deterioration", "dateAssigned": "2016-09-15T16:39:41.000-05:00", "objectId": "HGNC:2594" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002120", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600861" }, "publicationId": "PMID:16882736" }, "phenotypeStatement": "Cerebral cortical atrophy", "dateAssigned": "2016-09-15T16:39:41.000-05:00", "objectId": "HGNC:2594" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12879464" }, "publicationId": "PMID:22011817" }, "phenotypeStatement": "Seizure", "dateAssigned": "2017-04-21T12:02:19.000-05:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535975" }, "publicationId": "PMID:18387594" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2016-09-27T13:51:37.000-05:00", "objectId": "HGNC:29253" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11535975" }, "publicationId": "PMID:18387594" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2016-09-27T13:51:37.000-05:00", "objectId": "HGNC:29253" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004429", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902960" }, "publicationId": "PMID:22534316" }, "phenotypeStatement": "Recurrent viral infections", "dateAssigned": "2020-12-17T13:36:17.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005425", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902960" }, "publicationId": "PMID:22534316" }, "phenotypeStatement": "Recurrent sinopulmonary infections", "dateAssigned": "2020-12-17T13:36:17.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001880", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902960" }, "publicationId": "PMID:22534316" }, "phenotypeStatement": "Increased total eosinophil count", "dateAssigned": "2020-12-17T13:36:17.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902960" }, "publicationId": "PMID:22534316" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2020-12-17T13:36:17.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012771", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11570538" }, "publicationId": "PMID:16188863" }, "phenotypeStatement": "Increased arm span", "dateAssigned": "2016-12-19T15:53:15.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003457", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684377" }, "publicationId": "PMID:20728947" }, "phenotypeStatement": "EMG abnormality", "dateAssigned": "2018-10-15T11:58:08.000-05:00", "objectId": "HGNC:6009" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684377" }, "publicationId": "PMID:20728947" }, "phenotypeStatement": "Muscle weakness", "dateAssigned": "2018-10-15T11:58:08.000-05:00", "objectId": "HGNC:6009" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21079464" }, "publicationId": "PMID:22530350" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2020-02-18T14:08:29.000-06:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21079464" }, "publicationId": "PMID:22530350" }, "phenotypeStatement": "Increased waist to hip ratio", "dateAssigned": "2020-02-18T14:08:29.000-06:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21079464" }, "publicationId": "PMID:22530350" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2020-02-18T14:20:47.000-06:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025500", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21079464" }, "publicationId": "PMID:22530350" }, "phenotypeStatement": "Class II obesity", "dateAssigned": "2020-02-18T14:08:29.000-06:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21079464" }, "publicationId": "PMID:22530350" }, "phenotypeStatement": "Increased adipose tissue", "dateAssigned": "2020-02-18T14:08:29.000-06:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11074745" }, "publicationId": "PMID:25367052" }, "phenotypeStatement": "Increased total leukocyte count", "dateAssigned": "2019-05-21T15:37:05.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011227", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11074745" }, "publicationId": "PMID:25367052" }, "phenotypeStatement": "Elevated circulating C-reactive protein concentration", "dateAssigned": "2019-05-21T15:37:05.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11568154" }, "publicationId": "PMID:16222665" }, "phenotypeStatement": "Tall stature", "dateAssigned": "2016-12-19T16:07:25.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040194", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11568154" }, "publicationId": "PMID:16222665" }, "phenotypeStatement": "Increased head circumference", "dateAssigned": "2016-12-19T16:07:25.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000276", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11568154" }, "publicationId": "PMID:16222665" }, "phenotypeStatement": "Long face", "dateAssigned": "2016-12-19T16:07:25.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000277", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11568154" }, "publicationId": "PMID:16222665" }, "phenotypeStatement": "Abnormal mandible morphology", "dateAssigned": "2016-12-19T16:07:25.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000400", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11568154" }, "publicationId": "PMID:16222665" }, "phenotypeStatement": "Macrotia", "dateAssigned": "2016-12-19T16:07:25.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:127285353" }, "publicationId": "PMID:23354321" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2021-06-17T08:43:36.000-05:00", "objectId": "HGNC:6005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147999" }, "publicationId": "PMID:18679149" }, "phenotypeStatement": "Bacteremia", "dateAssigned": "2018-09-06T11:46:34.000-05:00", "objectId": "HGNC:243" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003493", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548787" }, "publicationId": "PMID:22294627" }, "phenotypeStatement": "Antinuclear antibody positivity", "dateAssigned": "2019-09-17T16:05:41.000-05:00", "objectId": "HGNC:6709" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158082" }, "publicationId": "PMID:16604479" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-29T14:29:09.000-06:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020183", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696737" }, "publicationId": "PMID:25452597" }, "phenotypeStatement": "Increased circulating A-type natriuretic peptide concentration", "dateAssigned": "2019-07-23T11:20:47.000-05:00", "objectId": "HGNC:7939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001714", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696737" }, "publicationId": "PMID:25452597" }, "phenotypeStatement": "Ventricular hypertrophy", "dateAssigned": "2019-07-23T11:20:47.000-05:00", "objectId": "HGNC:7939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329349360" }, "publicationId": "PMID:11028479" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2023-05-18T09:08:04.000-05:00", "objectId": "HGNC:468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394778" }, "publicationId": "PMID:16113792" }, "phenotypeStatement": "Retinal hemorrhage", "dateAssigned": "2019-04-18T15:36:35.000-05:00", "objectId": "HGNC:3542" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902959" }, "publicationId": "PMID:25218284" }, "phenotypeStatement": "Decreased regulatory T cell proportion", "dateAssigned": "2020-12-17T12:36:52.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902959" }, "publicationId": "PMID:25218284" }, "phenotypeStatement": "Autoimmune antibody positivity", "dateAssigned": "2020-12-17T12:36:52.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011923", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1556706" }, "publicationId": "PMID:11349233" }, "phenotypeStatement": "Decreased activity of mitochondrial complex I", "dateAssigned": "2016-10-26T16:29:13.000-05:00", "objectId": "HGNC:7707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006496", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11556209" }, "publicationId": "PMID:12843316" }, "phenotypeStatement": "Aplasia/hypoplasia involving bones of the upper limbs", "dateAssigned": "2016-10-27T12:09:02.000-05:00", "objectId": "HGNC:15924" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009777", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11556209" }, "publicationId": "PMID:12843316" }, "phenotypeStatement": "Absent thumb", "dateAssigned": "2016-10-27T12:09:02.000-05:00", "objectId": "HGNC:15924" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548870" }, "publicationId": "PMID:22242192" }, "phenotypeStatement": "Bradycardia", "dateAssigned": "2019-09-11T10:56:40.000-05:00", "objectId": "HGNC:333" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548870" }, "publicationId": "PMID:22242192" }, "phenotypeStatement": "Sick sinus syndrome", "dateAssigned": "2019-09-11T10:56:40.000-05:00", "objectId": "HGNC:333" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010640", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661654" }, "publicationId": "PMID:23544055" }, "phenotypeStatement": "Abnormal nasal cavity morphology", "dateAssigned": "2019-09-11T11:45:28.000-05:00", "objectId": "HGNC:11195" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11565841" }, "publicationId": "PMID:17003087" }, "phenotypeStatement": "Small for gestational age", "dateAssigned": "2016-11-29T12:57:29.000-06:00", "objectId": "HGNC:4263" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0045082", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11566037" }, "publicationId": "PMID:17973940" }, "phenotypeStatement": "Decreased body mass index", "dateAssigned": "2016-11-30T15:39:17.000-06:00", "objectId": "HGNC:4263" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21079732" }, "publicationId": "PMID:22251200" }, "phenotypeStatement": "Hepatic cysts", "dateAssigned": "2020-02-19T14:08:34.000-06:00", "objectId": "HGNC:12363" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005150", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791032" }, "publicationId": "PMID:25469153" }, "phenotypeStatement": "Abnormal atrioventricular conduction", "dateAssigned": "2017-02-28T15:54:26.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207860" }, "publicationId": "PMID:22325052" }, "phenotypeStatement": "Fever", "dateAssigned": "2019-04-04T17:11:07.000-05:00", "objectId": "HGNC:6027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011227", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207860" }, "publicationId": "PMID:22325052" }, "phenotypeStatement": "Elevated circulating C-reactive protein concentration", "dateAssigned": "2019-04-04T17:11:07.000-05:00", "objectId": "HGNC:6027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011121", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11039055" }, "publicationId": "PMID:20702504" }, "phenotypeStatement": "Abnormal skin morphology", "dateAssigned": "2019-04-04T15:39:24.000-05:00", "objectId": "HGNC:333" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012085", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207860" }, "publicationId": "PMID:22325052" }, "phenotypeStatement": "Pyuria", "dateAssigned": "2019-04-04T17:11:07.000-05:00", "objectId": "HGNC:6027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207860" }, "publicationId": "PMID:22325052" }, "phenotypeStatement": "Bacteriuria", "dateAssigned": "2019-04-04T17:11:07.000-05:00", "objectId": "HGNC:6027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003565", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207860" }, "publicationId": "PMID:22325052" }, "phenotypeStatement": "Elevated erythrocyte sedimentation rate", "dateAssigned": "2019-04-04T17:11:07.000-05:00", "objectId": "HGNC:6027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000572", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800706" }, "publicationId": "PMID:19112530" }, "phenotypeStatement": "Visual loss", "dateAssigned": "2018-12-11T17:39:38.000-06:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800706" }, "publicationId": "PMID:19112530" }, "phenotypeStatement": "Temporal optic disc pallor", "dateAssigned": "2018-12-11T17:39:38.000-06:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800715" }, "publicationId": "PMID:23401657" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-12-12T11:35:44.000-06:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100766", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547780" }, "publicationId": "PMID:21912605" }, "phenotypeStatement": "Abnormal lymphatic vessel morphology", "dateAssigned": "2019-08-20T12:00:08.000-05:00", "objectId": "HGNC:11919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100766", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7394846" }, "publicationId": "PMID:20640597" }, "phenotypeStatement": "Abnormal lymphatic vessel morphology", "dateAssigned": "2019-08-20T12:13:57.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11070482" }, "publicationId": "PMID:21507892" }, "phenotypeStatement": "Bifid nasal tip", "dateAssigned": "2016-10-24T11:45:42.000-05:00", "objectId": "HGNC:23399" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032308", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11074745" }, "publicationId": "PMID:25367052" }, "phenotypeStatement": "Increased circulating procalcitonin concentration", "dateAssigned": "2019-05-21T15:37:05.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003128", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071447" }, "publicationId": "PMID:17705025" }, "phenotypeStatement": "Lactic acidosis", "dateAssigned": "2020-02-19T14:10:46.000-06:00", "objectId": "HGNC:9725" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001507", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071447" }, "publicationId": "PMID:17705025" }, "phenotypeStatement": "Growth abnormality", "dateAssigned": "2020-02-19T14:13:01.000-06:00", "objectId": "HGNC:9725" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7495782" }, "publicationId": "PMID:21898345" }, "phenotypeStatement": "Scleroderma", "dateAssigned": "2019-07-31T14:01:28.000-05:00", "objectId": "HGNC:6112" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030859", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7495782" }, "publicationId": "PMID:21898345" }, "phenotypeStatement": "Anti-topoisomerase I antibody positivity", "dateAssigned": "2019-07-31T14:01:28.000-05:00", "objectId": "HGNC:6112" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002206", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7495782" }, "publicationId": "PMID:21898345" }, "phenotypeStatement": "Pulmonary fibrosis", "dateAssigned": "2019-07-31T14:01:28.000-05:00", "objectId": "HGNC:6112" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000709", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449035" }, "publicationId": "PMID:16082692" }, "phenotypeStatement": "Psychosis", "dateAssigned": "2019-07-31T17:03:54.000-05:00", "objectId": "HGNC:7997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000027", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11566027" }, "publicationId": "PMID:11119745" }, "phenotypeStatement": "Azoospermia", "dateAssigned": "2016-11-30T13:32:02.000-06:00", "objectId": "HGNC:1884" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002160", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11565103" }, "publicationId": "PMID:8935478" }, "phenotypeStatement": "Hyperhomocystinemia", "dateAssigned": "2016-11-21T10:50:25.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006380", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11565126" }, "publicationId": "PMID:15654694" }, "phenotypeStatement": "Knee flexion contracture", "dateAssigned": "2016-11-21T15:14:47.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012385", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11565126" }, "publicationId": "PMID:15654694" }, "phenotypeStatement": "Camptodactyly", "dateAssigned": "2016-11-21T15:14:47.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000271", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11570546" }, "publicationId": "PMID:15452385" }, "phenotypeStatement": "Abnormality of the face", "dateAssigned": "2016-12-20T11:49:58.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030791", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11570546" }, "publicationId": "PMID:15452385" }, "phenotypeStatement": "Abnormal jaw morphology", "dateAssigned": "2016-12-20T11:49:58.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11570546" }, "publicationId": "PMID:15452385" }, "phenotypeStatement": "Frontal bossing", "dateAssigned": "2016-12-20T11:49:58.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009890", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11570546" }, "publicationId": "PMID:15452385" }, "phenotypeStatement": "High anterior hairline", "dateAssigned": "2016-12-20T11:49:58.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040194", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11570546" }, "publicationId": "PMID:15452385" }, "phenotypeStatement": "Increased head circumference", "dateAssigned": "2016-12-20T11:49:58.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030260", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11576230" }, "publicationId": "PMID:23386417" }, "phenotypeStatement": "Microphallus", "dateAssigned": "2016-12-29T14:30:28.000-06:00", "objectId": "HGNC:644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158056" }, "publicationId": "PMID:24055231" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-07-31T17:20:40.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000979", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11046267" }, "publicationId": "PMID:22677268" }, "phenotypeStatement": "Purpura", "dateAssigned": "2019-07-31T16:11:36.000-05:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038828" }, "publicationId": "PMID:10193250" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2019-08-01T16:23:20.000-05:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886298" }, "publicationId": "PMID:26109044" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-05T23:47:42.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886298" }, "publicationId": "PMID:26109044" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2020-12-05T23:47:42.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002524", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147861" }, "publicationId": "PMID:11179016" }, "phenotypeStatement": "Cataplexy", "dateAssigned": "2018-10-30T12:22:11.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207879" }, "publicationId": "PMID:18803832" }, "phenotypeStatement": "Systemic lupus erythematosus", "dateAssigned": "2019-08-20T14:39:27.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147973" }, "publicationId": "PMID:17092257" }, "phenotypeStatement": "Systemic lupus erythematosus", "dateAssigned": "2019-08-20T14:56:50.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011355", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8549593" }, "publicationId": "PMID:23617596" }, "phenotypeStatement": "Localized skin lesion", "dateAssigned": "2019-03-21T15:17:15.000-05:00", "objectId": "HGNC:5973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012735", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340578" }, "publicationId": "PMID:22652695" }, "phenotypeStatement": "Cough", "dateAssigned": "2021-08-17T08:31:00.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340588" }, "publicationId": "PMID:29149205" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-08-17T09:16:27.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340577" }, "publicationId": "PMID:23486513" }, "phenotypeStatement": "Nephropathy", "dateAssigned": "2021-08-17T07:51:33.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13825442" }, "publicationId": "PMID:11843698" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2018-12-05T16:21:51.000-06:00", "objectId": "HGNC:7414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13825442" }, "publicationId": "PMID:11843698" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2018-12-05T16:21:51.000-06:00", "objectId": "HGNC:7414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009830", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13825442" }, "publicationId": "PMID:11843698" }, "phenotypeStatement": "Peripheral neuropathy", "dateAssigned": "2018-12-05T16:21:51.000-06:00", "objectId": "HGNC:7414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003731", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11570561" }, "publicationId": "PMID:22742934" }, "phenotypeStatement": "Quadriceps muscle weakness", "dateAssigned": "2016-12-20T14:42:56.000-06:00", "objectId": "HGNC:27337" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009050", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11570561" }, "publicationId": "PMID:22742934" }, "phenotypeStatement": "Quadriceps muscle atrophy", "dateAssigned": "2016-12-20T14:42:56.000-06:00", "objectId": "HGNC:27337" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030153", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073239" }, "publicationId": "PMID:12692057" }, "phenotypeStatement": "Cholangiocarcinoma", "dateAssigned": "2020-01-28T14:47:25.000-06:00", "objectId": "HGNC:1097" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100785", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484261" }, "publicationId": "PMID:22392034" }, "phenotypeStatement": "Insomnia", "dateAssigned": "2019-09-25T14:42:51.000-05:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004348", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045836" }, "publicationId": "PMID:12915669" }, "phenotypeStatement": "Abnormality of bone mineral density", "dateAssigned": "2019-09-25T17:49:13.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696737" }, "publicationId": "PMID:25452597" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2019-07-23T11:20:47.000-05:00", "objectId": "HGNC:7939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2307213" }, "publicationId": "PMID:16911630" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2020-12-14T16:52:00.000-06:00", "objectId": "HGNC:1663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003745", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429744" }, "publicationId": "PMID:19610067" }, "phenotypeStatement": "Sporadic", "dateAssigned": "2021-09-22T17:26:30.000-05:00", "objectId": "HGNC:6844" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429744" }, "publicationId": "PMID:19610067" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2021-09-22T17:26:30.000-05:00", "objectId": "HGNC:6844" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001297", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:737738" }, "publicationId": "PMID:12393616" }, "phenotypeStatement": "Stroke", "dateAssigned": "2019-11-21T14:30:49.000-06:00", "objectId": "HGNC:12663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000572", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657125" }, "publicationId": "PMID:24398099" }, "phenotypeStatement": "Visual loss", "dateAssigned": "2018-12-19T14:09:10.000-06:00", "objectId": "HGNC:7462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000572", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490293" }, "publicationId": "PMID:19026397" }, "phenotypeStatement": "Visual loss", "dateAssigned": "2018-12-18T13:18:26.000-06:00", "objectId": "HGNC:7414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012317", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147611" }, "publicationId": "PMID:19565552" }, "phenotypeStatement": "Sacroiliac arthritis", "dateAssigned": "2019-09-26T16:34:22.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147611" }, "publicationId": "PMID:19565552" }, "phenotypeStatement": "Back pain", "dateAssigned": "2019-09-26T16:34:22.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030269", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11570547" }, "publicationId": "PMID:15362962" }, "phenotypeStatement": "Increased circulating insulin-like growth factor 1 concentration", "dateAssigned": "2016-12-20T10:59:02.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030680", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11570546" }, "publicationId": "PMID:15452385" }, "phenotypeStatement": "Abnormal cardiovascular system morphology", "dateAssigned": "2016-12-20T12:00:41.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11570546" }, "publicationId": "PMID:15452385" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2016-12-20T12:00:16.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158081" }, "publicationId": "PMID:20716226" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-07-31T17:13:46.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548788" }, "publicationId": "PMID:11194890" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T12:50:30.000-05:00", "objectId": "HGNC:43" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002524", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147861" }, "publicationId": "PMID:11179016" }, "phenotypeStatement": "Cataplexy", "dateAssigned": "2018-10-30T12:14:37.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002353", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147604" }, "publicationId": "PMID:21292329" }, "phenotypeStatement": "EEG abnormality", "dateAssigned": "2019-09-25T14:15:47.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100785", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147604" }, "publicationId": "PMID:21292329" }, "phenotypeStatement": "Insomnia", "dateAssigned": "2019-09-25T14:15:47.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553058" }, "publicationId": "PMID:19032828" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2019-07-31T10:06:18.000-05:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684369" }, "publicationId": "PMID:16832637" }, "phenotypeStatement": "Scleroderma", "dateAssigned": "2019-07-31T12:52:04.000-05:00", "objectId": "HGNC:5973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147391" }, "publicationId": "PMID:21109726" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T13:23:54.000-05:00", "objectId": "HGNC:6002" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411727" }, "publicationId": "PMID:6559061" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T15:54:23.000-05:00", "objectId": "HGNC:1248" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000925", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045836" }, "publicationId": "PMID:12915669" }, "phenotypeStatement": "Abnormality of the vertebral column", "dateAssigned": "2019-09-25T17:37:20.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012317", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7495783" }, "publicationId": "PMID:20500689" }, "phenotypeStatement": "Sacroiliac arthritis", "dateAssigned": "2019-09-26T16:50:30.000-05:00", "objectId": "HGNC:6112" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7495783" }, "publicationId": "PMID:20500689" }, "phenotypeStatement": "Back pain", "dateAssigned": "2019-09-26T16:50:30.000-05:00", "objectId": "HGNC:6112" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553629" }, "publicationId": "PMID:26197724" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2021-09-29T11:16:29.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429797" }, "publicationId": "PMID:30093645" }, "phenotypeStatement": "Hepatitis", "dateAssigned": "2021-09-29T11:35:54.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001760", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662334" }, "publicationId": "PMID:20184498" }, "phenotypeStatement": "Abnormal foot morphology", "dateAssigned": "2018-10-15T12:52:07.000-05:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011355", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662334" }, "publicationId": "PMID:20184498" }, "phenotypeStatement": "Localized skin lesion", "dateAssigned": "2018-10-15T12:52:07.000-05:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500022", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662334" }, "publicationId": "PMID:20184498" }, "phenotypeStatement": "Abnormal circulating dehydroepiandrosterone concentration", "dateAssigned": "2018-10-15T12:52:07.000-05:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410174", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483554" }, "publicationId": "PMID:20036365" }, "phenotypeStatement": "Increased circulating troponin T concentration", "dateAssigned": "2018-10-23T13:20:22.000-05:00", "objectId": "HGNC:8744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483554" }, "publicationId": "PMID:20036365" }, "phenotypeStatement": "Abnormal EKG", "dateAssigned": "2018-10-23T13:20:22.000-05:00", "objectId": "HGNC:8744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003236", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483554" }, "publicationId": "PMID:20036365" }, "phenotypeStatement": "Elevated circulating creatine kinase concentration", "dateAssigned": "2018-10-23T13:20:22.000-05:00", "objectId": "HGNC:8744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483554" }, "publicationId": "PMID:20036365" }, "phenotypeStatement": "Arterial stenosis", "dateAssigned": "2018-10-23T13:20:22.000-05:00", "objectId": "HGNC:8744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012667", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483554" }, "publicationId": "PMID:20036365" }, "phenotypeStatement": "Regional left ventricular wall motion abnormality", "dateAssigned": "2018-10-23T13:20:22.000-05:00", "objectId": "HGNC:8744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032025", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14695046" }, "publicationId": "PMID:28947017" }, "phenotypeStatement": "Reduced circulating alpha-1-antitrypsin concentration", "dateAssigned": "2019-07-01T11:44:37.000-05:00", "objectId": "HGNC:8941" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147596" }, "publicationId": "PMID:18299791" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-07-24T15:47:37.000-05:00", "objectId": "HGNC:5234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11576280" }, "publicationId": "PMID:24468074" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2017-01-03T12:32:07.000-06:00", "objectId": "HGNC:801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001284", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11576280" }, "publicationId": "PMID:24468074" }, "phenotypeStatement": "Areflexia", "dateAssigned": "2017-01-03T12:32:07.000-06:00", "objectId": "HGNC:801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11576280" }, "publicationId": "PMID:24468074" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2017-01-03T12:32:07.000-06:00", "objectId": "HGNC:801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11576280" }, "publicationId": "PMID:24468074" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2017-01-03T12:32:07.000-06:00", "objectId": "HGNC:801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696702" }, "publicationId": "PMID:28058700" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-07-24T14:33:26.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696772" }, "publicationId": "PMID:24570146" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-07-24T14:37:56.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025020", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657378" }, "publicationId": "PMID:19914098" }, "phenotypeStatement": "Elevated prostate-specific antigen level", "dateAssigned": "2019-03-18T14:39:16.000-05:00", "objectId": "HGNC:51586" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000925", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045836" }, "publicationId": "PMID:12915669" }, "phenotypeStatement": "Abnormality of the vertebral column", "dateAssigned": "2019-09-25T17:31:09.000-05:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5686297" }, "publicationId": "PMID:20629122" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2019-09-26T11:37:07.000-05:00", "objectId": "HGNC:9305" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007832", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11553863" }, "publicationId": "PMID:18513683" }, "phenotypeStatement": "Pigmentation of the sclera", "dateAssigned": "2018-11-01T12:37:02.000-05:00", "objectId": "HGNC:20859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012317", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147611" }, "publicationId": "PMID:19565552" }, "phenotypeStatement": "Sacroiliac arthritis", "dateAssigned": "2019-09-26T16:23:12.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147611" }, "publicationId": "PMID:19565552" }, "phenotypeStatement": "Back pain", "dateAssigned": "2019-09-26T16:23:12.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548796" }, "publicationId": "PMID:10600011" }, "phenotypeStatement": "Scleroderma", "dateAssigned": "2019-07-31T14:30:28.000-05:00", "objectId": "HGNC:6709" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483343" }, "publicationId": "PMID:16891421" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-07-23T17:31:32.000-05:00", "objectId": "HGNC:2158" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484126" }, "publicationId": "PMID:20518747" }, "phenotypeStatement": "Abnormal EKG", "dateAssigned": "2018-10-23T14:06:25.000-05:00", "objectId": "HGNC:9052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484126" }, "publicationId": "PMID:20518747" }, "phenotypeStatement": "Arterial stenosis", "dateAssigned": "2018-10-23T14:06:25.000-05:00", "objectId": "HGNC:9052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012667", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484126" }, "publicationId": "PMID:20518747" }, "phenotypeStatement": "Regional left ventricular wall motion abnormality", "dateAssigned": "2018-10-23T14:06:25.000-05:00", "objectId": "HGNC:9052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547991" }, "publicationId": "PMID:22419850" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2019-05-01T17:29:18.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547991" }, "publicationId": "PMID:22419850" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2019-05-01T17:29:18.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147975" }, "publicationId": "PMID:15004265" }, "phenotypeStatement": "Glomerulonephritis", "dateAssigned": "2019-08-20T14:02:38.000-05:00", "objectId": "HGNC:3616" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004944", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329955463" }, "publicationId": "PMID:31040677" }, "phenotypeStatement": "Dilatation of the cerebral artery", "dateAssigned": "2023-07-12T16:37:05.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11085239" }, "publicationId": "PMID:25917671" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-07-13T15:47:53.000-05:00", "objectId": "HGNC:4814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11344677" }, "publicationId": "PMID:26372394" }, "phenotypeStatement": "Viremia", "dateAssigned": "2020-12-07T09:17:45.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39018553" }, "publicationId": "PMID:20648603" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-09-22T21:53:02.000-05:00", "objectId": "HGNC:18788" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010794", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10427727" }, "publicationId": "PMID:20574532" }, "phenotypeStatement": "Impaired visuospatial constructive cognition", "dateAssigned": "2019-10-11T15:27:32.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5687182" }, "publicationId": "PMID:19332697" }, "phenotypeStatement": "Muscle weakness", "dateAssigned": "2018-10-11T14:51:20.000-05:00", "objectId": "HGNC:3010" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002380", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5687182" }, "publicationId": "PMID:19332697" }, "phenotypeStatement": "Fasciculations", "dateAssigned": "2018-10-11T14:51:20.000-05:00", "objectId": "HGNC:3010" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002205", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40903056" }, "publicationId": "PMID:22476911" }, "phenotypeStatement": "Recurrent respiratory infections", "dateAssigned": "2021-01-07T11:38:52.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40903056" }, "publicationId": "PMID:22476911" }, "phenotypeStatement": "Decreased CD4+ T cell proportion", "dateAssigned": "2021-01-07T11:38:52.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001880", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40903056" }, "publicationId": "PMID:22476911" }, "phenotypeStatement": "Increased total eosinophil count", "dateAssigned": "2021-01-07T11:38:52.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002850", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40903056" }, "publicationId": "PMID:22476911" }, "phenotypeStatement": "Decreased circulating total IgM", "dateAssigned": "2021-01-07T11:38:52.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548491" }, "publicationId": "PMID:23470535" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2019-06-25T12:49:19.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031258", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:406351024" }, "publicationId": "PMID:10235270" }, "phenotypeStatement": "Delirium", "dateAssigned": "2024-07-17T11:40:50.000-05:00", "objectId": "HGNC:1569" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011923", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21066346" }, "publicationId": "PMID:23625533" }, "phenotypeStatement": "Decreased activity of mitochondrial complex I", "dateAssigned": "2020-04-19T22:06:49.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21066346" }, "publicationId": "PMID:23625533" }, "phenotypeStatement": "Increased total bilirubin", "dateAssigned": "2020-04-19T22:06:49.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004914", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21066346" }, "publicationId": "PMID:23625533" }, "phenotypeStatement": "Recurrent infantile hypoglycemia", "dateAssigned": "2020-04-19T22:06:49.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006254", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21066346" }, "publicationId": "PMID:23625533" }, "phenotypeStatement": "Elevated circulating alpha-fetoprotein concentration", "dateAssigned": "2020-04-19T22:06:50.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463973" }, "publicationId": "PMID:23612435" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-11T09:37:31.000-05:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003088", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11667104" }, "publicationId": "PMID:20131279" }, "phenotypeStatement": "Premature osteoarthritis", "dateAssigned": "2017-01-17T12:23:30.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000414", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588485" }, "publicationId": "PMID:22265017" }, "phenotypeStatement": "Bulbous nose", "dateAssigned": "2018-05-25T17:39:03.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588485" }, "publicationId": "PMID:22265017" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2018-05-25T17:39:03.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588485" }, "publicationId": "PMID:22265017" }, "phenotypeStatement": "Hydronephrosis", "dateAssigned": "2018-05-25T17:39:03.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147596" }, "publicationId": "PMID:18299791" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-07-24T15:42:47.000-05:00", "objectId": "HGNC:5233" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006443", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588485" }, "publicationId": "PMID:22265017" }, "phenotypeStatement": "Patellar aplasia", "dateAssigned": "2018-05-25T17:39:03.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006380", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588485" }, "publicationId": "PMID:22265017" }, "phenotypeStatement": "Knee flexion contracture", "dateAssigned": "2018-05-25T17:39:03.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001762", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588485" }, "publicationId": "PMID:22265017" }, "phenotypeStatement": "Talipes equinovarus", "dateAssigned": "2018-05-25T17:39:03.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007370", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588485" }, "publicationId": "PMID:22265017" }, "phenotypeStatement": "Aplasia/Hypoplasia of the corpus callosum", "dateAssigned": "2018-05-25T17:39:03.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588485" }, "publicationId": "PMID:22265017" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2018-05-25T17:39:03.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588485" }, "publicationId": "PMID:22265017" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2018-05-25T17:39:03.000-05:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030833", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662332" }, "publicationId": "PMID:21898113" }, "phenotypeStatement": "Neck pain", "dateAssigned": "2019-02-06T10:34:37.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358598" }, "publicationId": "PMID:11496370" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-07-25T16:28:17.000-05:00", "objectId": "HGNC:12520" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696773" }, "publicationId": "PMID:23493666" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-07-24T14:40:53.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40903056" }, "publicationId": "PMID:22476911" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2021-01-07T11:38:52.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:631734358" }, "publicationId": "PMID:22812194" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2026-02-09T12:42:13.000-06:00", "objectId": "HGNC:16404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405849410" }, "publicationId": "PMID:19698703" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "2024-05-29T14:55:35.000-05:00", "objectId": "HGNC:1958" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13209130" }, "publicationId": "PMID:15710860" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2017-08-30T10:47:16.000-05:00", "objectId": "HGNC:11817" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001332", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13209130" }, "publicationId": "PMID:15710860" }, "phenotypeStatement": "Dystonia", "dateAssigned": "2017-08-30T10:47:16.000-05:00", "objectId": "HGNC:11817" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886300" }, "publicationId": "PMID:25658540" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-06T22:50:02.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012638", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6892695" }, "publicationId": "PMID:20072140" }, "phenotypeStatement": "Abnormal nervous system physiology", "dateAssigned": "2018-10-10T13:38:58.000-05:00", "objectId": "HGNC:30308" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147596" }, "publicationId": "PMID:18299791" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-07-24T15:28:39.000-05:00", "objectId": "HGNC:5232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12879473" }, "publicationId": "PMID:20382060" }, "phenotypeStatement": "Seizure", "dateAssigned": "2017-04-21T13:14:01.000-05:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483059" }, "publicationId": "PMID:22419519" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-07-24T17:00:12.000-05:00", "objectId": "HGNC:7459" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696780" }, "publicationId": "PMID:15670788" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-07-24T17:53:37.000-05:00", "objectId": "HGNC:10500" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329902076" }, "publicationId": "PMID:23661672" }, "phenotypeStatement": "Increased carotid artery intimal medial thickness", "dateAssigned": "2023-06-29T22:18:00.000-05:00", "objectId": "HGNC:5358" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13209136" }, "publicationId": "PMID:17471106" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2017-08-30T13:35:31.000-05:00", "objectId": "HGNC:11817" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011392", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13209136" }, "publicationId": "PMID:17471106" }, "phenotypeStatement": "Abnormality of the vestibular nerve", "dateAssigned": "2017-08-30T13:35:31.000-05:00", "objectId": "HGNC:11817" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011396", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13209136" }, "publicationId": "PMID:17471106" }, "phenotypeStatement": "Abnormality of the cochlear nerve", "dateAssigned": "2017-08-30T13:35:31.000-05:00", "objectId": "HGNC:11817" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100614", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147793" }, "publicationId": "PMID:16609350" }, "phenotypeStatement": "Myositis", "dateAssigned": "2019-08-12T15:07:06.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100614", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147869" }, "publicationId": "PMID:9550481" }, "phenotypeStatement": "Myositis", "dateAssigned": "2019-08-12T15:25:05.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100614", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147793" }, "publicationId": "PMID:16609350" }, "phenotypeStatement": "Myositis", "dateAssigned": "2019-08-12T15:38:31.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8549731" }, "publicationId": "PMID:20484597" }, "phenotypeStatement": "Myopia", "dateAssigned": "2019-08-12T15:53:48.000-05:00", "objectId": "HGNC:7166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006279", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405650683" }, "publicationId": "PMID:23776430" }, "phenotypeStatement": "Beta-cell dysfunction", "dateAssigned": "2024-05-02T15:47:01.000-05:00", "objectId": "HGNC:2303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405650683" }, "publicationId": "PMID:23776430" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2024-05-02T15:47:01.000-05:00", "objectId": "HGNC:2303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002921", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147610" }, "publicationId": "PMID:19616314" }, "phenotypeStatement": "Abnormal cerebrospinal fluid morphology", "dateAssigned": "2018-10-11T13:49:05.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030682", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058532" }, "publicationId": "PMID:25873806" }, "phenotypeStatement": "Left ventricular noncompaction", "dateAssigned": "2017-03-02T16:09:32.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004308", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11056513" }, "publicationId": "PMID:25837155" }, "phenotypeStatement": "Ventricular arrhythmia", "dateAssigned": "2017-03-03T13:59:51.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003073", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429797" }, "publicationId": "PMID:30093645" }, "phenotypeStatement": "Hypoalbuminemia", "dateAssigned": "2021-09-29T11:36:44.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100787", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429969" }, "publicationId": "PMID:15448004" }, "phenotypeStatement": "Prostate neoplasm", "dateAssigned": "2021-10-07T19:16:00.000-05:00", "objectId": "HGNC:3691" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011675", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791273" }, "publicationId": "PMID:17701980" }, "phenotypeStatement": "Arrhythmia", "dateAssigned": "2017-03-02T16:36:08.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003306", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791273" }, "publicationId": "PMID:17701980" }, "phenotypeStatement": "Spinal rigidity", "dateAssigned": "2017-03-02T16:36:08.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001371", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791273" }, "publicationId": "PMID:17701980" }, "phenotypeStatement": "Flexion contracture", "dateAssigned": "2017-03-02T16:36:08.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012234", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073696" }, "publicationId": "PMID:14617031" }, "phenotypeStatement": "Absence of circulating granulocytes", "dateAssigned": "2019-07-24T17:18:53.000-05:00", "objectId": "HGNC:7856" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884355" }, "publicationId": "PMID:28627441" }, "phenotypeStatement": "Abdominal distention", "dateAssigned": "2020-05-08T10:50:59.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002910", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884355" }, "publicationId": "PMID:28627441" }, "phenotypeStatement": "Elevated circulating hepatic transaminase concentration", "dateAssigned": "2020-05-08T10:50:59.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001875", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688741" }, "publicationId": "PMID:19786980" }, "phenotypeStatement": "Decreased total neutrophil count", "dateAssigned": "2018-12-05T17:14:30.000-06:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688741" }, "publicationId": "PMID:19786980" }, "phenotypeStatement": "Thrombocytopenia", "dateAssigned": "2018-12-05T17:14:30.000-06:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688741" }, "publicationId": "PMID:19786980" }, "phenotypeStatement": "Anemia", "dateAssigned": "2018-12-05T17:14:30.000-06:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000962", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12880393" }, "publicationId": "PMID:17050553" }, "phenotypeStatement": "Hyperkeratosis", "dateAssigned": "2017-05-05T12:47:52.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008529", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548860" }, "publicationId": "PMID:18491423" }, "phenotypeStatement": "Absence of acoustic reflex", "dateAssigned": "2019-02-05T11:49:34.000-06:00", "objectId": "HGNC:333" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548860" }, "publicationId": "PMID:18491423" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2019-02-05T11:49:34.000-06:00", "objectId": "HGNC:333" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040100", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548860" }, "publicationId": "PMID:18491423" }, "phenotypeStatement": "Abnormality of the vestibular window", "dateAssigned": "2019-02-05T11:49:34.000-06:00", "objectId": "HGNC:333" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547668" }, "publicationId": "PMID:20042177" }, "phenotypeStatement": "Abnormal posterior segment imaging", "dateAssigned": "2018-03-16T17:49:56.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547518" }, "publicationId": "PMID:19479837" }, "phenotypeStatement": "Arthritis", "dateAssigned": "2018-03-16T12:03:25.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547518" }, "publicationId": "PMID:19479837" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2018-03-16T12:03:25.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000988", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547518" }, "publicationId": "PMID:19479837" }, "phenotypeStatement": "Skin rash", "dateAssigned": "2018-03-16T12:03:25.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547563" }, "publicationId": "PMID:22553514" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-16T16:04:31.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007906", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547563" }, "publicationId": "PMID:22553514" }, "phenotypeStatement": "Ocular hypertension", "dateAssigned": "2018-03-16T16:04:31.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012795", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547563" }, "publicationId": "PMID:22553514" }, "phenotypeStatement": "Abnormal optic disc morphology", "dateAssigned": "2018-03-16T16:04:31.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002078", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12879464" }, "publicationId": "PMID:22011817" }, "phenotypeStatement": "Truncal ataxia", "dateAssigned": "2017-04-21T12:02:31.000-05:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12879464" }, "publicationId": "PMID:22011817" }, "phenotypeStatement": "Hypoglycorrhachia", "dateAssigned": "2017-04-21T12:02:31.000-05:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410377", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902864" }, "publicationId": "PMID:22006977" }, "phenotypeStatement": "Decreased naive CD8+ T cell proportion", "dateAssigned": "2020-12-15T16:27:34.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032183", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902864" }, "publicationId": "PMID:22006977" }, "phenotypeStatement": "Decreased memory T cell proportion", "dateAssigned": "2020-12-15T16:27:34.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031514", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902864" }, "publicationId": "PMID:22006977" }, "phenotypeStatement": "Increased proportion of exhausted T cells", "dateAssigned": "2020-12-15T16:27:34.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902864" }, "publicationId": "PMID:22006977" }, "phenotypeStatement": "Decreased CD4+ T cell proportion", "dateAssigned": "2020-12-15T16:27:34.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547991" }, "publicationId": "PMID:22419850" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2019-05-01T17:29:18.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007797", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547991" }, "publicationId": "PMID:22419850" }, "phenotypeStatement": "Developmental retinal vascular malformation", "dateAssigned": "2019-05-01T17:29:18.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640476621" }, "publicationId": "PMID:32082391" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2026-03-13T13:43:39.000-05:00", "objectId": "HGNC:30696" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410207", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405849355" }, "publicationId": "PMID:28723731" }, "phenotypeStatement": "Positive methadone plasma/serum test", "dateAssigned": "2024-05-23T12:46:35.000-05:00", "objectId": "HGNC:2638" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5686341" }, "publicationId": "PMID:11935318" }, "phenotypeStatement": "Leber optic atrophy", "dateAssigned": "2019-08-12T16:05:56.000-05:00", "objectId": "HGNC:7460" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5686341" }, "publicationId": "PMID:11935318" }, "phenotypeStatement": "Sudden loss of visual acuity", "dateAssigned": "2019-08-12T16:09:42.000-05:00", "objectId": "HGNC:7460" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657125" }, "publicationId": "PMID:24398099" }, "phenotypeStatement": "Leber optic atrophy", "dateAssigned": "2019-08-12T16:13:19.000-05:00", "objectId": "HGNC:7462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688732" }, "publicationId": "PMID:15838728" }, "phenotypeStatement": "Leber optic atrophy", "dateAssigned": "2019-08-12T16:25:58.000-05:00", "objectId": "HGNC:3401" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032186", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5685669" }, "publicationId": "PMID:20622004" }, "phenotypeStatement": "Anal neoplasm", "dateAssigned": "2019-07-31T15:31:46.000-05:00", "objectId": "HGNC:8975" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030082", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696776" }, "publicationId": "PMID:29063269" }, "phenotypeStatement": "Abnormal drinking behavior", "dateAssigned": "2019-07-24T15:49:12.000-05:00", "objectId": "HGNC:404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030082", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696777" }, "publicationId": "PMID:29779728" }, "phenotypeStatement": "Abnormal drinking behavior", "dateAssigned": "2019-07-24T15:53:21.000-05:00", "objectId": "HGNC:404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696777" }, "publicationId": "PMID:29779728" }, "phenotypeStatement": "Increased total bilirubin", "dateAssigned": "2019-07-24T15:53:21.000-05:00", "objectId": "HGNC:404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003282", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696777" }, "publicationId": "PMID:29779728" }, "phenotypeStatement": "Decreased circulating alkaline phosphatase activity", "dateAssigned": "2019-07-24T15:53:21.000-05:00", "objectId": "HGNC:404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696778" }, "publicationId": "PMID:12940444" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-07-24T16:13:45.000-05:00", "objectId": "HGNC:404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483059" }, "publicationId": "PMID:22419519" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-07-24T16:37:07.000-05:00", "objectId": "HGNC:6700" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483059" }, "publicationId": "PMID:22419519" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2019-07-24T16:37:07.000-05:00", "objectId": "HGNC:6700" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484126" }, "publicationId": "PMID:20518747" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2019-08-12T16:55:28.000-05:00", "objectId": "HGNC:9052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548841" }, "publicationId": "PMID:23398946" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2019-08-12T17:06:20.000-05:00", "objectId": "HGNC:6709" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005547", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449419" }, "publicationId": "PMID:23107469" }, "phenotypeStatement": "Myeloproliferative disorder", "dateAssigned": "2019-08-12T17:31:53.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910846" }, "publicationId": "PMID:22882323" }, "phenotypeStatement": "Small for gestational age", "dateAssigned": "2017-06-27T11:29:56.000-05:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0430037", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405849279" }, "publicationId": "PMID:19500157" }, "phenotypeStatement": "Abnormal alcohol consumption", "dateAssigned": "2024-05-21T13:05:55.000-05:00", "objectId": "HGNC:15963" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552977" }, "publicationId": "PMID:17904846" }, "phenotypeStatement": "Obesity", "dateAssigned": "2018-04-04T12:42:38.000-05:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547560" }, "publicationId": "PMID:10677395" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-03-16T15:56:09.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547560" }, "publicationId": "PMID:10677395" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-16T15:56:09.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012190", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429643" }, "publicationId": "PMID:27600764" }, "phenotypeStatement": "T-cell lymphoma", "dateAssigned": "2021-09-10T12:34:41.000-05:00", "objectId": "HGNC:18420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429982" }, "publicationId": "PMID:23524567" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2021-10-08T15:59:44.000-05:00", "objectId": "HGNC:3691" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547991" }, "publicationId": "PMID:22419850" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2019-05-01T17:29:18.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011675", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791277" }, "publicationId": "PMID:25256213" }, "phenotypeStatement": "Arrhythmia", "dateAssigned": "2017-03-03T12:48:31.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12791277" }, "publicationId": "PMID:25256213" }, "phenotypeStatement": "Increased muscle fatiguability", "dateAssigned": "2017-03-03T12:48:31.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10768828" }, "publicationId": "PMID:18081723" }, "phenotypeStatement": "Increased total bilirubin", "dateAssigned": "2018-01-24T09:48:47.000-06:00", "objectId": "HGNC:12530" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001892", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10766469" }, "publicationId": "PMID:16409463" }, "phenotypeStatement": "Abnormal bleeding", "dateAssigned": "2018-01-24T11:09:00.000-06:00", "objectId": "HGNC:6137" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207878" }, "publicationId": "PMID:20479942" }, "phenotypeStatement": "Systemic lupus erythematosus", "dateAssigned": "2019-08-20T14:41:59.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012594", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12879466" }, "publicationId": "PMID:26337659" }, "phenotypeStatement": "Moderate albuminuria", "dateAssigned": "2017-04-21T12:24:40.000-05:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12879466" }, "publicationId": "PMID:26337659" }, "phenotypeStatement": "Elevated circulating creatinine concentration", "dateAssigned": "2017-04-21T12:24:40.000-05:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100660", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12879478" }, "publicationId": "PMID:21832227" }, "phenotypeStatement": "Dyskinesia", "dateAssigned": "2017-04-21T16:15:13.000-05:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002921", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147610" }, "publicationId": "PMID:19616314" }, "phenotypeStatement": "Abnormal cerebrospinal fluid morphology", "dateAssigned": "2018-10-11T13:51:43.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15036794" }, "publicationId": "PMID:23454624" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-11-15T13:07:34.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15036794" }, "publicationId": "PMID:23454624" }, "phenotypeStatement": "Hepatic fibrosis", "dateAssigned": "2019-11-15T13:07:34.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011121", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547886" }, "publicationId": "PMID:17346338" }, "phenotypeStatement": "Abnormal skin morphology", "dateAssigned": "2019-11-21T15:00:21.000-06:00", "objectId": "HGNC:7176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002910", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Elevated circulating hepatic transaminase concentration", "dateAssigned": "2020-04-20T08:24:38.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030948", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Elevated gamma-glutamyltransferase level", "dateAssigned": "2020-04-20T08:24:38.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Increased total bilirubin", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002151", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Increased circulating lactate concentration", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011923", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Decreased activity of mitochondrial complex I", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9587779" }, "publicationId": "PMID:22326837" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "2018-05-24T13:33:40.000-05:00", "objectId": "HGNC:11114" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5685021" }, "publicationId": "PMID:15574195" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2019-11-21T13:43:25.000-06:00", "objectId": "HGNC:11784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Decreased activity of mitochondrial complex IV", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002013", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Vomiting", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Irritability", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001254", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Lethargy", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15036797" }, "publicationId": "PMID:29935355" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-11-15T13:50:45.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000980", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Pallor", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Abdominal distention", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Abnormality of the coagulation cascade", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002239", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Gastrointestinal hemorrhage", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008872", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:25440486" }, "publicationId": "PMID:19732863" }, "phenotypeStatement": "Feeding difficulties in infancy", "dateAssigned": "2020-04-20T08:24:39.000-05:00", "objectId": "HGNC:25481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041787" }, "publicationId": "PMID:24567965" }, "phenotypeStatement": "Abnormal circulating ferritin concentration", "dateAssigned": "2019-11-26T16:19:06.000-06:00", "objectId": "HGNC:5141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011893", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041787" }, "publicationId": "PMID:24567965" }, "phenotypeStatement": "Abnormal leukocyte count", "dateAssigned": "2019-11-26T16:19:06.000-06:00", "objectId": "HGNC:5141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041787" }, "publicationId": "PMID:24567965" }, "phenotypeStatement": "Avascular necrosis of the capital femoral epiphysis", "dateAssigned": "2019-11-26T16:19:06.000-06:00", "objectId": "HGNC:5141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200023", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041787" }, "publicationId": "PMID:24567965" }, "phenotypeStatement": "Priapism", "dateAssigned": "2019-11-26T16:19:06.000-06:00", "objectId": "HGNC:5141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041787" }, "publicationId": "PMID:24567965" }, "phenotypeStatement": "Abnormal mean corpuscular volume", "dateAssigned": "2019-11-26T16:19:06.000-06:00", "objectId": "HGNC:5141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025546", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041787" }, "publicationId": "PMID:24567965" }, "phenotypeStatement": "Abnormal mean corpuscular hemoglobin concentration", "dateAssigned": "2019-11-26T16:19:06.000-06:00", "objectId": "HGNC:5141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041787" }, "publicationId": "PMID:24567965" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2019-11-26T16:19:06.000-06:00", "objectId": "HGNC:5141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884355" }, "publicationId": "PMID:28627441" }, "phenotypeStatement": "Growth delay", "dateAssigned": "2020-05-08T10:50:59.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884355" }, "publicationId": "PMID:28627441" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2020-05-08T10:50:59.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15014792" }, "publicationId": "PMID:19194663" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-11-11T16:48:03.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001626", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207155" }, "publicationId": "PMID:17598818" }, "phenotypeStatement": "Abnormality of the cardiovascular system", "dateAssigned": "2018-09-07T11:23:52.000-05:00", "objectId": "HGNC:20389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012202", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14694979" }, "publicationId": "PMID:22343912" }, "phenotypeStatement": "Increased serum bile acid concentration", "dateAssigned": "2019-06-25T16:01:17.000-05:00", "objectId": "HGNC:45" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15042881" }, "publicationId": "PMID:19119483" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-12-13T15:10:15.000-06:00", "objectId": "HGNC:9232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002185", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10427727" }, "publicationId": "PMID:20574532" }, "phenotypeStatement": "Neurofibrillary tangles", "dateAssigned": "2019-10-11T14:53:34.000-05:00", "objectId": "HGNC:13017" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003712", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12880042" }, "publicationId": "PMID:22158539" }, "phenotypeStatement": "Skeletal muscle hypertrophy", "dateAssigned": "2017-05-02T14:09:50.000-05:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001376", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12880042" }, "publicationId": "PMID:22158539" }, "phenotypeStatement": "Limitation of joint mobility", "dateAssigned": "2017-05-02T14:09:50.000-05:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12880042" }, "publicationId": "PMID:22158539" }, "phenotypeStatement": "Thickened skin", "dateAssigned": "2017-05-02T14:09:50.000-05:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12880042" }, "publicationId": "PMID:22158539" }, "phenotypeStatement": "Short philtrum", "dateAssigned": "2017-05-02T14:09:50.000-05:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012745", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12880042" }, "publicationId": "PMID:22158539" }, "phenotypeStatement": "Short palpebral fissure", "dateAssigned": "2017-05-02T14:09:50.000-05:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12880042" }, "publicationId": "PMID:22158539" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2017-05-02T14:09:50.000-05:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12880042" }, "publicationId": "PMID:22158539" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2017-05-02T14:09:50.000-05:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002684", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12880042" }, "publicationId": "PMID:22158539" }, "phenotypeStatement": "Thickened calvaria", "dateAssigned": "2017-05-02T14:09:50.000-05:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12880042" }, "publicationId": "PMID:22158539" }, "phenotypeStatement": "Short stature", "dateAssigned": "2017-05-02T14:09:50.000-05:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4892274" }, "publicationId": "PMID:19951440" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2026-02-12T17:16:38.000-06:00", "objectId": "HGNC:17024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010794", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10427727" }, "publicationId": "PMID:20574532" }, "phenotypeStatement": "Impaired visuospatial constructive cognition", "dateAssigned": "2019-10-11T14:53:34.000-05:00", "objectId": "HGNC:13017" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:632517869" }, "publicationId": "PMID:30036556" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2026-02-10T14:57:08.000-06:00", "objectId": "HGNC:5981" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10427727" }, "publicationId": "PMID:20574532" }, "phenotypeStatement": "Alzheimer disease", "dateAssigned": "2019-10-11T14:54:16.000-05:00", "objectId": "HGNC:13017" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001297", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041787" }, "publicationId": "PMID:24567965" }, "phenotypeStatement": "Stroke", "dateAssigned": "2019-11-26T16:19:39.000-06:00", "objectId": "HGNC:5141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000740", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5686356" }, "publicationId": "PMID:17123728" }, "phenotypeStatement": "Episodic paroxysmal anxiety", "dateAssigned": "2019-02-07T14:31:31.000-06:00", "objectId": "HGNC:20692" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540333" }, "publicationId": "PMID:32334466" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2022-01-04T13:50:37.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006254", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540333" }, "publicationId": "PMID:32334466" }, "phenotypeStatement": "Elevated circulating alpha-fetoprotein concentration", "dateAssigned": "2022-01-04T13:50:37.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003073", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540333" }, "publicationId": "PMID:32334466" }, "phenotypeStatement": "Hypoalbuminemia", "dateAssigned": "2022-01-04T13:50:37.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034685", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11353778" }, "publicationId": "PMID:23098818" }, "phenotypeStatement": "Abnormal liver enzyme activity or concentration", "dateAssigned": "2026-03-19T13:27:41.000-05:00", "objectId": "HGNC:2625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031950", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429642" }, "publicationId": "PMID:33533494" }, "phenotypeStatement": "Usual interstitial pneumonia", "dateAssigned": "2021-09-10T12:28:12.000-05:00", "objectId": "HGNC:18420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030078", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429649" }, "publicationId": "PMID:27687306" }, "phenotypeStatement": "Lung adenocarcinoma", "dateAssigned": "2021-09-10T12:51:09.000-05:00", "objectId": "HGNC:18420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002160", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14700661" }, "publicationId": "PMID:16825912" }, "phenotypeStatement": "Hyperhomocystinemia", "dateAssigned": "2019-11-20T08:10:36.000-06:00", "objectId": "HGNC:3542" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5685695" }, "publicationId": "PMID:21465128" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2019-11-21T11:15:33.000-06:00", "objectId": "HGNC:10720" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040214", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12880443" }, "publicationId": "PMID:15729572" }, "phenotypeStatement": "Abnormal circulating insulin concentration", "dateAssigned": "2017-05-08T13:58:43.000-05:00", "objectId": "HGNC:18253" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657119" }, "publicationId": "PMID:23665487" }, "phenotypeStatement": "Leber optic atrophy", "dateAssigned": "2019-08-12T16:15:11.000-05:00", "objectId": "HGNC:7462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38676455" }, "publicationId": "PMID:25700262" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2021-08-17T09:31:10.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540333" }, "publicationId": "PMID:32334466" }, "phenotypeStatement": "Abnormal platelet count", "dateAssigned": "2022-01-04T14:07:09.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540333" }, "publicationId": "PMID:32334466" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2022-01-04T14:07:09.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490293" }, "publicationId": "PMID:19026397" }, "phenotypeStatement": "Leber optic atrophy", "dateAssigned": "2019-08-12T16:21:13.000-05:00", "objectId": "HGNC:7414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449412" }, "publicationId": "PMID:10090925" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2019-08-12T17:10:06.000-05:00", "objectId": "HGNC:613" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010876", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5685695" }, "publicationId": "PMID:21465128" }, "phenotypeStatement": "Abnormal circulating protein concentration", "dateAssigned": "2019-11-21T11:16:00.000-06:00", "objectId": "HGNC:10720" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012204", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39938863" }, "publicationId": "PMID:23853597" }, "phenotypeStatement": "Recurrent vulvovaginal candidiasis", "dateAssigned": "2020-10-14T19:17:36.000-05:00", "objectId": "HGNC:6059" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540333" }, "publicationId": "PMID:32334466" }, "phenotypeStatement": "Elevated circulating alkaline phosphatase concentration", "dateAssigned": "2022-01-04T14:07:09.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002097", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640480042" }, "publicationId": "PMID:24735339" }, "phenotypeStatement": "Emphysema", "dateAssigned": "2026-03-25T13:57:47.000-05:00", "objectId": "HGNC:4187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410371", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15036797" }, "publicationId": "PMID:29935355" }, "phenotypeStatement": "Increased hepatitis C virus antibody level", "dateAssigned": "2019-11-15T13:52:09.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002863", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450876" }, "publicationId": "PMID:23099237" }, "phenotypeStatement": "Myelodysplasia", "dateAssigned": "2019-08-12T17:48:01.000-05:00", "objectId": "HGNC:25941" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033350", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640476587" }, "publicationId": "PMID:25048491" }, "phenotypeStatement": "Elevated forced expiratory volume in one second", "dateAssigned": "2026-03-10T16:34:57.000-05:00", "objectId": "HGNC:4187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100766", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662330" }, "publicationId": "PMID:10755383" }, "phenotypeStatement": "Abnormal lymphatic vessel morphology", "dateAssigned": "2019-08-20T12:31:08.000-05:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657123" }, "publicationId": "PMID:19732751" }, "phenotypeStatement": "Leber optic atrophy", "dateAssigned": "2019-08-12T16:14:08.000-05:00", "objectId": "HGNC:7462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7245571" }, "publicationId": "PMID:11607787" }, "phenotypeStatement": "Systemic lupus erythematosus", "dateAssigned": "2019-08-20T14:34:30.000-05:00", "objectId": "HGNC:11892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032260", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147980" }, "publicationId": "PMID:10792385" }, "phenotypeStatement": "Opportunistic bacterial infection", "dateAssigned": "2019-08-20T15:10:03.000-05:00", "objectId": "HGNC:3616" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14392796" }, "publicationId": "PMID:12067277" }, "phenotypeStatement": "Myeloid leukemia", "dateAssigned": "2019-08-21T14:18:21.000-05:00", "objectId": "HGNC:76" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5144221" }, "publicationId": "PMID:11875049" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2019-05-01T15:58:52.000-05:00", "objectId": "HGNC:6052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5144221" }, "publicationId": "PMID:11875049" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2019-05-01T15:58:52.000-05:00", "objectId": "HGNC:6052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5144221" }, "publicationId": "PMID:11875049" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2019-05-01T15:58:52.000-05:00", "objectId": "HGNC:6052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007797", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5144221" }, "publicationId": "PMID:11875049" }, "phenotypeStatement": "Developmental retinal vascular malformation", "dateAssigned": "2019-05-01T15:58:52.000-05:00", "objectId": "HGNC:6052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14700899" }, "publicationId": "PMID:29765251" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-11-19T09:48:40.000-06:00", "objectId": "HGNC:404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001522", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6771369" }, "publicationId": "PMID:20009079" }, "phenotypeStatement": "Death in infancy", "dateAssigned": "2019-11-21T14:44:14.000-06:00", "objectId": "HGNC:11167" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100002", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429647" }, "publicationId": "PMID:26928227" }, "phenotypeStatement": "Pleural mesothelioma", "dateAssigned": "2021-09-10T12:43:48.000-05:00", "objectId": "HGNC:18420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004398", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147609" }, "publicationId": "PMID:20405713" }, "phenotypeStatement": "Peptic ulcer", "dateAssigned": "2019-08-02T11:24:52.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12879870" }, "publicationId": "PMID:25937795" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2017-04-28T12:53:16.000-05:00", "objectId": "HGNC:2928" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7241847" }, "publicationId": "PMID:23269818" }, "phenotypeStatement": "Abnormal liver sonography", "dateAssigned": "2018-01-09T15:03:38.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000152", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588232" }, "publicationId": "PMID:25303977" }, "phenotypeStatement": "Abnormality of head or neck", "dateAssigned": "2018-05-24T16:44:42.000-05:00", "objectId": "HGNC:13726" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005202", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11046273" }, "publicationId": "PMID:23292007" }, "phenotypeStatement": "Helicobacter pylori infection", "dateAssigned": "2018-08-15T16:25:27.000-05:00", "objectId": "HGNC:704" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010876", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11046273" }, "publicationId": "PMID:23292007" }, "phenotypeStatement": "Abnormal circulating protein concentration", "dateAssigned": "2018-08-15T16:25:27.000-05:00", "objectId": "HGNC:704" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9587807" }, "publicationId": "PMID:18697827" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2018-05-24T13:48:33.000-05:00", "objectId": "HGNC:11114" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11056008" }, "publicationId": "PMID:25491489" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2017-07-06T13:42:40.000-05:00", "objectId": "HGNC:9462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11056008" }, "publicationId": "PMID:25491489" }, "phenotypeStatement": "Optic atrophy", "dateAssigned": "2017-07-06T13:42:40.000-05:00", "objectId": "HGNC:9462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11056008" }, "publicationId": "PMID:25491489" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2017-07-06T13:42:40.000-05:00", "objectId": "HGNC:9462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007401", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11056008" }, "publicationId": "PMID:25491489" }, "phenotypeStatement": "Macular atrophy", "dateAssigned": "2017-07-06T13:42:40.000-05:00", "objectId": "HGNC:9462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10768831" }, "publicationId": "PMID:23246290" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2018-08-14T13:16:16.000-05:00", "objectId": "HGNC:11161" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100684", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041796" }, "publicationId": "PMID:21692051" }, "phenotypeStatement": "Salivary gland neoplasm", "dateAssigned": "2018-08-15T15:24:08.000-05:00", "objectId": "HGNC:12836" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242025" }, "publicationId": "PMID:22684233" }, "phenotypeStatement": "Abnormality of urine homeostasis", "dateAssigned": "2018-01-09T17:38:33.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001626", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242032" }, "publicationId": "PMID:18162502" }, "phenotypeStatement": "Abnormality of the cardiovascular system", "dateAssigned": "2018-01-09T17:46:58.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000079", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7241142" }, "publicationId": "PMID:18240004" }, "phenotypeStatement": "Abnormality of the urinary system", "dateAssigned": "2018-01-09T13:32:15.000-06:00", "objectId": "HGNC:9052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657116" }, "publicationId": "PMID:22577081" }, "phenotypeStatement": "Leber optic atrophy", "dateAssigned": "2019-08-12T16:19:31.000-05:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483554" }, "publicationId": "PMID:20036365" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2019-08-12T16:59:58.000-05:00", "objectId": "HGNC:8744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147995" }, "publicationId": "PMID:17082469" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2019-08-12T17:17:14.000-05:00", "objectId": "HGNC:243" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005547", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449376" }, "publicationId": "PMID:23845539" }, "phenotypeStatement": "Myeloproliferative disorder", "dateAssigned": "2019-08-12T17:36:58.000-05:00", "objectId": "HGNC:6192" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012317", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147611" }, "publicationId": "PMID:19565552" }, "phenotypeStatement": "Sacroiliac arthritis", "dateAssigned": "2019-09-26T16:28:22.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7242032" }, "publicationId": "PMID:18162502" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-01-09T17:51:46.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207138" }, "publicationId": "PMID:12473595" }, "phenotypeStatement": "Abnormal breast morphology", "dateAssigned": "2018-01-09T10:05:05.000-06:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000479", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7241840" }, "publicationId": "PMID:23335958" }, "phenotypeStatement": "Abnormal retinal morphology", "dateAssigned": "2018-01-09T14:58:15.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002419", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12911208" }, "publicationId": "PMID:23386033" }, "phenotypeStatement": "Molar tooth sign on MRI", "dateAssigned": "2017-07-06T14:06:32.000-05:00", "objectId": "HGNC:21474" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12911208" }, "publicationId": "PMID:23386033" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2017-07-06T14:06:32.000-05:00", "objectId": "HGNC:21474" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000657", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12911208" }, "publicationId": "PMID:23386033" }, "phenotypeStatement": "Oculomotor apraxia", "dateAssigned": "2017-07-06T14:06:32.000-05:00", "objectId": "HGNC:21474" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207401" }, "publicationId": "PMID:23284801" }, "phenotypeStatement": "Abnormal bladder morphology", "dateAssigned": "2018-01-09T10:21:36.000-06:00", "objectId": "HGNC:7553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030604", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547549" }, "publicationId": "PMID:23538572" }, "phenotypeStatement": "Abnormal fundus fluorescein angiography", "dateAssigned": "2018-03-16T14:54:05.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207432" }, "publicationId": "PMID:18483343" }, "phenotypeStatement": "Abnormal prostate morphology", "dateAssigned": "2018-01-09T10:35:46.000-06:00", "objectId": "HGNC:7553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450491" }, "publicationId": "PMID:8547122" }, "phenotypeStatement": "Increased total bilirubin", "dateAssigned": "2018-08-15T11:30:49.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000952", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450491" }, "publicationId": "PMID:8547122" }, "phenotypeStatement": "Jaundice", "dateAssigned": "2018-08-15T11:30:49.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031197", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147975" }, "publicationId": "PMID:15004265" }, "phenotypeStatement": "Cellular urinary casts", "dateAssigned": "2018-08-16T15:53:38.000-05:00", "objectId": "HGNC:11917" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147975" }, "publicationId": "PMID:15004265" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2018-08-16T15:53:38.000-05:00", "objectId": "HGNC:11917" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001923", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450491" }, "publicationId": "PMID:8547122" }, "phenotypeStatement": "Reticulocytosis", "dateAssigned": "2018-08-15T11:30:49.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031965", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450491" }, "publicationId": "PMID:8547122" }, "phenotypeStatement": "Increased RBC distribution width", "dateAssigned": "2018-08-15T11:30:49.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005502", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10450491" }, "publicationId": "PMID:8547122" }, "phenotypeStatement": "Increased red cell osmotic fragility", "dateAssigned": "2018-08-15T11:30:49.000-05:00", "objectId": "HGNC:11027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003645", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040559" }, "publicationId": "PMID:10602365" }, "phenotypeStatement": "Prolonged partial thromboplastin time", "dateAssigned": "2018-08-15T12:00:40.000-05:00", "objectId": "HGNC:3661" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002524", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147861" }, "publicationId": "PMID:11179016" }, "phenotypeStatement": "Cataplexy", "dateAssigned": "2018-10-26T18:24:40.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001297", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11039048" }, "publicationId": "PMID:11754397" }, "phenotypeStatement": "Stroke", "dateAssigned": "2019-09-27T13:55:33.000-05:00", "objectId": "HGNC:333" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508711" }, "publicationId": "PMID:14623372" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-07-24T17:04:13.000-05:00", "objectId": "HGNC:7459" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684928" }, "publicationId": "PMID:21233146" }, "phenotypeStatement": "Systemic lupus erythematosus", "dateAssigned": "2019-08-20T14:52:40.000-05:00", "objectId": "HGNC:10907" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7241144" }, "publicationId": "PMID:16825821" }, "phenotypeStatement": "Abnormal bladder morphology", "dateAssigned": "2018-01-09T13:36:38.000-06:00", "objectId": "HGNC:9052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901841" }, "publicationId": "PMID:33004870" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2023-06-27T14:23:15.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696780" }, "publicationId": "PMID:15670788" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-07-25T16:11:26.000-05:00", "objectId": "HGNC:21065" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030532", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158051" }, "publicationId": "PMID:19116920" }, "phenotypeStatement": "Visual acuity test abnormality", "dateAssigned": "2018-03-16T11:27:17.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8549541" }, "publicationId": "PMID:19220774" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2018-09-07T12:51:28.000-05:00", "objectId": "HGNC:5973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040217", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7241849" }, "publicationId": "PMID:23251491" }, "phenotypeStatement": "Elevated hemoglobin A1c", "dateAssigned": "2018-01-09T17:23:43.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7241849" }, "publicationId": "PMID:23251491" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-01-09T17:23:43.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007009", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7241018" }, "publicationId": "PMID:11668611" }, "phenotypeStatement": "Central nervous system degeneration", "dateAssigned": "2018-01-09T13:19:38.000-06:00", "objectId": "HGNC:7632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7241018" }, "publicationId": "PMID:11668611" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2018-01-09T13:19:38.000-06:00", "objectId": "HGNC:7632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7241821" }, "publicationId": "PMID:23449621" }, "phenotypeStatement": "Abnormal glucose homeostasis", "dateAssigned": "2018-01-09T14:09:04.000-06:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405866374" }, "publicationId": "PMID:34285142" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2024-07-01T15:43:51.000-05:00", "objectId": "HGNC:13503" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429799" }, "publicationId": "PMID:24520320" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-09-29T20:21:11.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002060", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429801" }, "publicationId": "PMID:17125797" }, "phenotypeStatement": "Abnormal cerebral morphology", "dateAssigned": "2021-09-29T20:24:55.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207838" }, "publicationId": "PMID:10706127" }, "phenotypeStatement": "Abnormal breast morphology", "dateAssigned": "2018-01-09T10:39:35.000-06:00", "objectId": "HGNC:7553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901909" }, "publicationId": "PMID:28750217" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-06-28T11:53:43.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449412" }, "publicationId": "PMID:10090925" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2019-08-12T17:03:55.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005547", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449393" }, "publicationId": "PMID:15858187" }, "phenotypeStatement": "Myeloproliferative disorder", "dateAssigned": "2019-08-12T17:35:32.000-05:00", "objectId": "HGNC:6192" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002863", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10755559" }, "publicationId": "PMID:12624489" }, "phenotypeStatement": "Myelodysplasia", "dateAssigned": "2019-08-12T17:56:53.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003473", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147855" }, "publicationId": "PMID:10593018" }, "phenotypeStatement": "Fatigable weakness", "dateAssigned": "2019-08-21T13:21:44.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684940" }, "publicationId": "PMID:17876529" }, "phenotypeStatement": "Scleroderma", "dateAssigned": "2019-08-22T18:00:05.000-05:00", "objectId": "HGNC:10907" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025389", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684940" }, "publicationId": "PMID:17876529" }, "phenotypeStatement": "Pulmonary interstitial high-resolution computed tomography abnormality", "dateAssigned": "2019-08-22T18:00:05.000-05:00", "objectId": "HGNC:10907" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002792", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684940" }, "publicationId": "PMID:17876529" }, "phenotypeStatement": "Reduced vital capacity", "dateAssigned": "2019-08-22T18:00:05.000-05:00", "objectId": "HGNC:10907" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003438", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601408" }, "publicationId": "PMID:15064763" }, "phenotypeStatement": "Absent Achilles reflex", "dateAssigned": "2018-01-23T16:13:11.000-06:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002460", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601408" }, "publicationId": "PMID:15064763" }, "phenotypeStatement": "Distal muscle weakness", "dateAssigned": "2018-01-23T16:13:11.000-06:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601408" }, "publicationId": "PMID:15064763" }, "phenotypeStatement": "Distal sensory impairment", "dateAssigned": "2018-01-23T16:13:11.000-06:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000575", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657118" }, "publicationId": "PMID:12112111" }, "phenotypeStatement": "Scotoma", "dateAssigned": "2018-12-18T14:48:58.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657118" }, "publicationId": "PMID:12112111" }, "phenotypeStatement": "Temporal optic disc pallor", "dateAssigned": "2018-12-18T14:48:58.000-06:00", "objectId": "HGNC:7455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000153", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7241146" }, "publicationId": "PMID:15356878" }, "phenotypeStatement": "Abnormality of the mouth", "dateAssigned": "2018-01-09T13:40:49.000-06:00", "objectId": "HGNC:9052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012759", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:596936241" }, "publicationId": "PMID:36200388" }, "phenotypeStatement": "Neurodevelopmental abnormality", "dateAssigned": "2025-01-02T11:54:03.000-06:00", "objectId": "HGNC:23386" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:596936241" }, "publicationId": "PMID:36200388" }, "phenotypeStatement": "Abnormal corpus callosum morphology", "dateAssigned": "2025-01-02T11:54:03.000-06:00", "objectId": "HGNC:23386" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002194", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:596936241" }, "publicationId": "PMID:36200388" }, "phenotypeStatement": "Delayed gross motor development", "dateAssigned": "2025-01-02T11:54:04.000-06:00", "objectId": "HGNC:23386" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147611" }, "publicationId": "PMID:19565552" }, "phenotypeStatement": "Back pain", "dateAssigned": "2019-09-26T16:28:22.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410301", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39938866" }, "publicationId": "PMID:32376795" }, "phenotypeStatement": "Partial absence of specific antibody response to unconjugated pneumococcus vaccine", "dateAssigned": "2020-10-14T20:27:38.000-05:00", "objectId": "HGNC:27962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12879864" }, "publicationId": "PMID:9800909" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2017-04-28T11:16:57.000-05:00", "objectId": "HGNC:2928" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483331" }, "publicationId": "PMID:22473874" }, "phenotypeStatement": "Abnormal corpus callosum morphology", "dateAssigned": "2019-07-25T16:57:35.000-05:00", "objectId": "HGNC:2158" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483331" }, "publicationId": "PMID:22473874" }, "phenotypeStatement": "Depression", "dateAssigned": "2019-07-25T16:57:35.000-05:00", "objectId": "HGNC:2158" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012317", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483025" }, "publicationId": "PMID:20627814" }, "phenotypeStatement": "Sacroiliac arthritis", "dateAssigned": "2019-09-26T17:39:54.000-05:00", "objectId": "HGNC:6192" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14401730" }, "publicationId": "PMID:10534150" }, "phenotypeStatement": "Increased blood pressure", "dateAssigned": "2019-05-16T11:56:22.000-05:00", "objectId": "HGNC:1606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21066337" }, "publicationId": "PMID:28164591" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-03-13T10:02:09.000-05:00", "objectId": "HGNC:29" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410371", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:21066337" }, "publicationId": "PMID:28164591" }, "phenotypeStatement": "Increased hepatitis C virus antibody level", "dateAssigned": "2020-03-13T10:02:09.000-05:00", "objectId": "HGNC:29" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8695975" }, "publicationId": "PMID:12029499" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T15:57:40.000-05:00", "objectId": "HGNC:320" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000083", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7247654" }, "publicationId": "PMID:18712049" }, "phenotypeStatement": "Renal insufficiency", "dateAssigned": "2019-07-31T15:25:48.000-05:00", "objectId": "HGNC:12805" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002204", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449427" }, "publicationId": "PMID:25316662" }, "phenotypeStatement": "Pulmonary embolism", "dateAssigned": "2019-07-31T16:25:32.000-05:00", "objectId": "HGNC:3535" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5509088" }, "publicationId": "PMID:17825267" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2019-06-28T12:13:28.000-05:00", "objectId": "HGNC:391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483025" }, "publicationId": "PMID:20627814" }, "phenotypeStatement": "Back pain", "dateAssigned": "2019-09-26T17:39:54.000-05:00", "objectId": "HGNC:6192" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38676455" }, "publicationId": "PMID:25700262" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2021-08-17T09:30:47.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005523", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38676455" }, "publicationId": "PMID:25700262" }, "phenotypeStatement": "Lymphoproliferative disorder", "dateAssigned": "2021-08-17T09:30:59.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490270" }, "publicationId": "PMID:15709156" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2018-09-04T10:49:14.000-05:00", "objectId": "HGNC:7414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490270" }, "publicationId": "PMID:15709156" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2018-09-04T10:49:14.000-05:00", "objectId": "HGNC:7414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001892", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10766468" }, "publicationId": "PMID:15226188" }, "phenotypeStatement": "Abnormal bleeding", "dateAssigned": "2018-01-24T11:26:43.000-06:00", "objectId": "HGNC:6138" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:12910846" }, "publicationId": "PMID:22882323" }, "phenotypeStatement": "Small for gestational age", "dateAssigned": "2017-06-27T11:27:42.000-05:00", "objectId": "HGNC:6922" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012735", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640478523" }, "publicationId": "PMID:30376117" }, "phenotypeStatement": "Cough", "dateAssigned": "2026-03-19T16:57:55.000-05:00", "objectId": "HGNC:4013" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030828", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4889589" }, "publicationId": "PMID:18305139" }, "phenotypeStatement": "Wheezing", "dateAssigned": "2026-03-02T13:43:02.000-06:00", "objectId": "HGNC:23631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38676444" }, "publicationId": "PMID:31863692" }, "phenotypeStatement": "Viremia", "dateAssigned": "2021-08-17T08:54:12.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001328", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11532935" }, "publicationId": "PMID:27100778" }, "phenotypeStatement": "Specific learning disability", "dateAssigned": "2017-06-30T13:22:59.000-05:00", "objectId": "HGNC:18141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429799" }, "publicationId": "PMID:24520320" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2021-09-29T20:21:17.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657119" }, "publicationId": "PMID:23665487" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-12-18T17:35:44.000-06:00", "objectId": "HGNC:7462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696732" }, "publicationId": "PMID:25664255" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2019-07-22T12:12:29.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329951006" }, "publicationId": "PMID:29956005" }, "phenotypeStatement": "Hepatic fibrosis", "dateAssigned": "2023-07-06T16:39:24.000-05:00", "objectId": "HGNC:28396" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001409", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329951005" }, "publicationId": "PMID:29112083" }, "phenotypeStatement": "Portal hypertension", "dateAssigned": "2023-07-06T16:13:42.000-05:00", "objectId": "HGNC:28396" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901841" }, "publicationId": "PMID:33004870" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2023-06-27T14:30:08.000-05:00", "objectId": "HGNC:6619" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340579" }, "publicationId": "PMID:31977279" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-08-17T08:42:23.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6000023", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405866374" }, "publicationId": "PMID:34285142" }, "phenotypeStatement": "Lack of sufficient daily physical activity", "dateAssigned": "2024-07-01T15:44:49.000-05:00", "objectId": "HGNC:13503" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548543" }, "publicationId": "PMID:9810568" }, "phenotypeStatement": "Macular edema", "dateAssigned": "2019-05-15T16:27:27.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548543" }, "publicationId": "PMID:9810568" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2019-05-15T16:27:27.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548543" }, "publicationId": "PMID:9810568" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2019-05-15T16:27:27.000-05:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547527" }, "publicationId": "PMID:23100559" }, "phenotypeStatement": "Abnormal circulating interleukin concentration", "dateAssigned": "2018-03-16T12:31:03.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003237", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547527" }, "publicationId": "PMID:23100559" }, "phenotypeStatement": "Increased circulating IgG concentration", "dateAssigned": "2018-03-16T12:31:03.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000532", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547527" }, "publicationId": "PMID:23100559" }, "phenotypeStatement": "Abnormal chorioretinal morphology", "dateAssigned": "2018-03-16T12:31:03.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4889589" }, "publicationId": "PMID:18305139" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2026-03-02T13:33:14.000-06:00", "objectId": "HGNC:23631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410296", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429803" }, "publicationId": "PMID:31243853" }, "phenotypeStatement": "Complete or near-complete absence of specific antibody response to hepatitis B vaccine", "dateAssigned": "2021-09-29T20:28:17.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000992", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14700886" }, "publicationId": "PMID:10942404" }, "phenotypeStatement": "Cutaneous photosensitivity", "dateAssigned": "2019-08-22T15:08:40.000-05:00", "objectId": "HGNC:3647" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14700886" }, "publicationId": "PMID:10942404" }, "phenotypeStatement": "Increased erythrocyte protoporphyrin concentration", "dateAssigned": "2019-08-22T15:08:40.000-05:00", "objectId": "HGNC:3647" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002354", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405866368" }, "publicationId": "PMID:32736537" }, "phenotypeStatement": "Memory impairment", "dateAssigned": "2024-06-27T21:05:06.000-05:00", "objectId": "HGNC:2689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100710", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:407424616" }, "publicationId": "PMID:24966714" }, "phenotypeStatement": "Impulsivity", "dateAssigned": "2024-08-05T12:27:35.000-05:00", "objectId": "HGNC:644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100614", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661720" }, "publicationId": "PMID:24632671" }, "phenotypeStatement": "Myositis", "dateAssigned": "2019-08-02T10:21:40.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696734" }, "publicationId": "PMID:22676358" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2019-07-22T13:53:11.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025188", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491394" }, "publicationId": "PMID:16799040" }, "phenotypeStatement": "Retinal vasculitis", "dateAssigned": "2019-07-31T15:20:55.000-05:00", "objectId": "HGNC:2558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147807" }, "publicationId": "PMID:11798899" }, "phenotypeStatement": "Lacunar stroke", "dateAssigned": "2019-09-30T14:24:00.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410296", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429804" }, "publicationId": "PMID:23739870" }, "phenotypeStatement": "Complete or near-complete absence of specific antibody response to hepatitis B vaccine", "dateAssigned": "2021-09-29T20:29:26.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902821" }, "publicationId": "PMID:30431214" }, "phenotypeStatement": "Viremia", "dateAssigned": "2020-12-11T20:45:37.000-06:00", "objectId": "HGNC:7797" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012796", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547552" }, "publicationId": "PMID:16411107" }, "phenotypeStatement": "Increased cup-to-disc ratio", "dateAssigned": "2018-03-16T15:48:34.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547552" }, "publicationId": "PMID:16411107" }, "phenotypeStatement": "Visual field defect", "dateAssigned": "2018-03-16T15:48:34.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030604", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547547" }, "publicationId": "PMID:23441121" }, "phenotypeStatement": "Abnormal fundus fluorescein angiography", "dateAssigned": "2018-03-16T12:50:39.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429807" }, "publicationId": "PMID:22737229" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-09-29T20:37:05.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007305", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429801" }, "publicationId": "PMID:17125797" }, "phenotypeStatement": "CNS demyelination", "dateAssigned": "2021-09-29T20:24:48.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11079504" }, "publicationId": "PMID:26233486" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-11T14:45:09.000-05:00", "objectId": "HGNC:8156" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11079504" }, "publicationId": "PMID:26233486" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-11T14:42:09.000-05:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7800708" }, "publicationId": "PMID:16513463" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2018-12-11T17:52:21.000-06:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601085" }, "publicationId": "PMID:16461442" }, "phenotypeStatement": "Nephritis", "dateAssigned": "2019-08-09T13:00:50.000-05:00", "objectId": "HGNC:270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003002", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158057" }, "publicationId": "PMID:9613456" }, "phenotypeStatement": "Breast carcinoma", "dateAssigned": "2019-08-09T13:23:54.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14974232" }, "publicationId": "PMID:28267888" }, "phenotypeStatement": "Chronic hepatitis", "dateAssigned": "2021-09-29T20:45:30.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010980", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696734" }, "publicationId": "PMID:22676358" }, "phenotypeStatement": "Hyperlipoproteinemia", "dateAssigned": "2019-07-22T13:52:25.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901835" }, "publicationId": "PMID:21208426" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-06-27T12:48:08.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000100", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7244138" }, "publicationId": "PMID:12900808" }, "phenotypeStatement": "Nephrotic syndrome", "dateAssigned": "2019-08-09T09:57:09.000-05:00", "objectId": "HGNC:11368" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537847" }, "publicationId": "PMID:26308704" }, "phenotypeStatement": "Abnormal platelet aggregation", "dateAssigned": "2023-09-18T13:43:48.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005268", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11537847" }, "publicationId": "PMID:26308704" }, "phenotypeStatement": "Miscarriage", "dateAssigned": "2023-09-18T13:43:48.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902999" }, "publicationId": "PMID:12651073" }, "phenotypeStatement": "Glomerulonephritis", "dateAssigned": "2020-12-22T12:33:56.000-06:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039387" }, "publicationId": "PMID:28457473" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-12-04T07:57:22.000-06:00", "objectId": "HGNC:9179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901909" }, "publicationId": "PMID:28750217" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2023-06-28T12:07:12.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150383340" }, "publicationId": "PMID:17582598" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2021-09-01T16:17:36.000-05:00", "objectId": "HGNC:795" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000090", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329951006" }, "publicationId": "PMID:29956005" }, "phenotypeStatement": "Nephronophthisis", "dateAssigned": "2023-07-06T16:39:07.000-05:00", "objectId": "HGNC:28396" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000992", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547886" }, "publicationId": "PMID:17346338" }, "phenotypeStatement": "Cutaneous photosensitivity", "dateAssigned": "2018-09-05T13:18:55.000-05:00", "objectId": "HGNC:7176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661768" }, "publicationId": "PMID:22402147" }, "phenotypeStatement": "Scleroderma", "dateAssigned": "2019-07-26T15:43:08.000-05:00", "objectId": "HGNC:1527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012384", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8549518" }, "publicationId": "PMID:22852128" }, "phenotypeStatement": "Rhinitis", "dateAssigned": "2019-06-21T17:02:26.000-05:00", "objectId": "HGNC:5973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100582", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147813" }, "publicationId": "PMID:10718431" }, "phenotypeStatement": "Nasal polyposis", "dateAssigned": "2019-08-09T16:32:04.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100582", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147813" }, "publicationId": "PMID:10718431" }, "phenotypeStatement": "Nasal polyposis", "dateAssigned": "2019-08-09T17:13:00.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100582", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147813" }, "publicationId": "PMID:10718431" }, "phenotypeStatement": "Nasal polyposis", "dateAssigned": "2019-08-09T17:15:54.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13703112" }, "publicationId": "PMID:24073860" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2018-08-02T14:49:41.000-05:00", "objectId": "HGNC:29832" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4889589" }, "publicationId": "PMID:18305139" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2026-03-02T13:32:14.000-06:00", "objectId": "HGNC:5318" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003002", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655899" }, "publicationId": "PMID:19152241" }, "phenotypeStatement": "Breast carcinoma", "dateAssigned": "2019-08-09T16:10:58.000-05:00", "objectId": "HGNC:5986" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246887" }, "publicationId": "PMID:21908957" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2018-01-26T13:14:22.000-06:00", "objectId": "HGNC:15633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246887" }, "publicationId": "PMID:21908957" }, "phenotypeStatement": "Abnormality of urine homeostasis", "dateAssigned": "2018-01-26T13:14:22.000-06:00", "objectId": "HGNC:15633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012056", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547886" }, "publicationId": "PMID:17346338" }, "phenotypeStatement": "Cutaneous melanoma", "dateAssigned": "2019-08-09T14:23:54.000-05:00", "objectId": "HGNC:7176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005584", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6907406" }, "publicationId": "PMID:16831169" }, "phenotypeStatement": "Renal cell carcinoma", "dateAssigned": "2019-08-09T14:38:02.000-05:00", "objectId": "HGNC:6156" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012089", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827100" }, "publicationId": "PMID:17428358" }, "phenotypeStatement": "Arteritis", "dateAssigned": "2023-09-20T10:33:58.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012089", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401824641" }, "publicationId": "PMID:23830516" }, "phenotypeStatement": "Arteritis", "dateAssigned": "2023-09-18T13:11:23.000-05:00", "objectId": "HGNC:11645" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6906881" }, "publicationId": "PMID:22795294" }, "phenotypeStatement": "Decreased glomerular filtration rate", "dateAssigned": "2019-04-12T11:15:29.000-05:00", "objectId": "HGNC:5992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000539", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901760" }, "publicationId": "PMID:22355252" }, "phenotypeStatement": "Abnormality of refraction", "dateAssigned": "2023-06-30T15:55:12.000-05:00", "objectId": "HGNC:29021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008046", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901760" }, "publicationId": "PMID:22355252" }, "phenotypeStatement": "Abnormal retinal vascular morphology", "dateAssigned": "2023-06-30T15:55:12.000-05:00", "objectId": "HGNC:29021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007703", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901760" }, "publicationId": "PMID:22355252" }, "phenotypeStatement": "Abnormal retinal pigmentation", "dateAssigned": "2023-06-30T15:55:12.000-05:00", "objectId": "HGNC:29021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003493", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661701" }, "publicationId": "PMID:23755762" }, "phenotypeStatement": "Antinuclear antibody positivity", "dateAssigned": "2019-07-26T14:06:14.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661701" }, "publicationId": "PMID:23755762" }, "phenotypeStatement": "Scleroderma", "dateAssigned": "2019-07-26T14:06:14.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011838", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661701" }, "publicationId": "PMID:23755762" }, "phenotypeStatement": "Sclerodactyly", "dateAssigned": "2019-07-26T14:06:14.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003254", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150383340" }, "publicationId": "PMID:17582598" }, "phenotypeStatement": "Abnormality of DNA repair", "dateAssigned": "2021-09-01T16:18:49.000-05:00", "objectId": "HGNC:795" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012210", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246885" }, "publicationId": "PMID:22251233" }, "phenotypeStatement": "Abnormal renal morphology", "dateAssigned": "2018-01-26T13:08:01.000-06:00", "objectId": "HGNC:15633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7246885" }, "publicationId": "PMID:22251233" }, "phenotypeStatement": "Elevated circulating creatinine concentration", "dateAssigned": "2018-01-26T13:08:01.000-06:00", "objectId": "HGNC:15633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508410" }, "publicationId": "PMID:20818610" }, "phenotypeStatement": "Neoplasm", "dateAssigned": "2019-08-09T13:09:36.000-05:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001633", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147643" }, "publicationId": "PMID:16426242" }, "phenotypeStatement": "Abnormal mitral valve morphology", "dateAssigned": "2019-06-21T12:32:35.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031417", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688262" }, "publicationId": "PMID:16879240" }, "phenotypeStatement": "Rhinorrhea", "dateAssigned": "2019-06-21T14:12:21.000-05:00", "objectId": "HGNC:1323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001742", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688262" }, "publicationId": "PMID:16879240" }, "phenotypeStatement": "Nasal congestion", "dateAssigned": "2019-06-21T14:12:21.000-05:00", "objectId": "HGNC:1323" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147813" }, "publicationId": "PMID:10718431" }, "phenotypeStatement": "Asthma", "dateAssigned": "2018-10-30T16:32:59.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147813" }, "publicationId": "PMID:10718431" }, "phenotypeStatement": "Asthma", "dateAssigned": "2018-10-30T16:12:33.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147813" }, "publicationId": "PMID:10718431" }, "phenotypeStatement": "Asthma", "dateAssigned": "2019-08-09T17:31:22.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025020", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657136" }, "publicationId": "PMID:24649009" }, "phenotypeStatement": "Elevated prostate-specific antigen level", "dateAssigned": "2019-03-18T12:28:19.000-05:00", "objectId": "HGNC:8125" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14985240" }, "publicationId": "PMID:26918371" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2019-10-15T12:44:04.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14985240" }, "publicationId": "PMID:26918371" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2019-10-15T12:44:04.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0045057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14985240" }, "publicationId": "PMID:26918371" }, "phenotypeStatement": "Decreased circulating alpha-fetoprotein concentration", "dateAssigned": "2019-10-15T12:44:04.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031691", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340583" }, "publicationId": "PMID:32524212" }, "phenotypeStatement": "Severe viral infection", "dateAssigned": "2021-08-17T09:05:20.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340577" }, "publicationId": "PMID:23486513" }, "phenotypeStatement": "Viremia", "dateAssigned": "2021-08-17T07:53:14.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14985240" }, "publicationId": "PMID:26918371" }, "phenotypeStatement": "Abnormal lymph node morphology", "dateAssigned": "2019-10-15T12:44:04.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429660" }, "publicationId": "PMID:21274863" }, "phenotypeStatement": "Increased hepatitis B virus antibody level", "dateAssigned": "2021-09-14T13:59:21.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829791" }, "publicationId": "PMID:18422436" }, "phenotypeStatement": "Recurrent Staphylococcus aureus infections", "dateAssigned": "2019-09-27T11:20:13.000-05:00", "objectId": "HGNC:6014" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688760" }, "publicationId": "PMID:18278190" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2019-09-30T13:54:02.000-05:00", "objectId": "HGNC:3662" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025020", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657378" }, "publicationId": "PMID:19914098" }, "phenotypeStatement": "Elevated prostate-specific antigen level", "dateAssigned": "2019-03-18T12:49:23.000-05:00", "objectId": "HGNC:8125" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031215", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893649" }, "publicationId": "PMID:16617014" }, "phenotypeStatement": "Decreased circulating dehydroepiandrosterone-sulfate concentration", "dateAssigned": "2019-03-18T14:53:12.000-05:00", "objectId": "HGNC:11458" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884366" }, "publicationId": "PMID:24381110" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2020-05-08T14:57:42.000-05:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884366" }, "publicationId": "PMID:24381110" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-05-08T14:57:43.000-05:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884366" }, "publicationId": "PMID:24381110" }, "phenotypeStatement": "Hepatic fibrosis", "dateAssigned": "2020-05-08T14:57:43.000-05:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0045081", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640476654" }, "publicationId": "PMID:28957450" }, "phenotypeStatement": "Abnormality of body mass index", "dateAssigned": "2026-03-18T11:56:46.000-05:00", "objectId": "HGNC:25257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640476655" }, "publicationId": "PMID:27118560" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2026-03-18T12:46:50.000-05:00", "objectId": "HGNC:24678" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14700669" }, "publicationId": "PMID:30066360" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2019-08-09T13:17:15.000-05:00", "objectId": "HGNC:11920" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14700669" }, "publicationId": "PMID:30066360" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2019-08-09T13:17:15.000-05:00", "objectId": "HGNC:11920" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886279" }, "publicationId": "PMID:28732143" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-04T10:47:04.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000550", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901760" }, "publicationId": "PMID:22355252" }, "phenotypeStatement": "Undetectable electroretinogram", "dateAssigned": "2023-06-30T15:55:12.000-05:00", "objectId": "HGNC:29021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884354" }, "publicationId": "PMID:8733134" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2020-05-08T10:48:22.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884354" }, "publicationId": "PMID:8733134" }, "phenotypeStatement": "Growth delay", "dateAssigned": "2020-05-08T10:48:22.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884354" }, "publicationId": "PMID:8733134" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2020-05-08T10:48:22.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002910", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884354" }, "publicationId": "PMID:8733134" }, "phenotypeStatement": "Elevated circulating hepatic transaminase concentration", "dateAssigned": "2020-05-08T10:48:22.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003281", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10755320" }, "publicationId": "PMID:19838709" }, "phenotypeStatement": "Increased circulating ferritin concentration", "dateAssigned": "2017-08-30T14:26:16.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003452", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10755320" }, "publicationId": "PMID:19838709" }, "phenotypeStatement": "Increased circulating iron concentration", "dateAssigned": "2017-08-30T14:26:16.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002301", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147804" }, "publicationId": "PMID:12373032" }, "phenotypeStatement": "Hemiplegia", "dateAssigned": "2019-09-30T15:44:08.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901841" }, "publicationId": "PMID:33004870" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2023-06-27T14:25:33.000-05:00", "objectId": "HGNC:2548" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553233" }, "publicationId": "PMID:20021257" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2018-04-06T16:51:49.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553233" }, "publicationId": "PMID:20021257" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2018-04-06T16:51:49.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553233" }, "publicationId": "PMID:20021257" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2018-04-06T16:51:49.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8553233" }, "publicationId": "PMID:20021257" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2018-04-06T16:51:49.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100710", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402528883" }, "publicationId": "PMID:21676558" }, "phenotypeStatement": "Impulsivity", "dateAssigned": "2024-03-14T16:45:02.000-05:00", "objectId": "HGNC:8010" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884353" }, "publicationId": "PMID:28283841" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2020-05-08T10:46:09.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001943", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884353" }, "publicationId": "PMID:28283841" }, "phenotypeStatement": "Hypoglycemia", "dateAssigned": "2020-05-08T10:46:09.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884353" }, "publicationId": "PMID:28283841" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2020-05-08T10:46:09.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884353" }, "publicationId": "PMID:28283841" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2020-05-08T10:46:09.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:26884353" }, "publicationId": "PMID:28283841" }, "phenotypeStatement": "Increased hepatic glycogen content", "dateAssigned": "2020-05-08T10:46:09.000-05:00", "objectId": "HGNC:8926" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429807" }, "publicationId": "PMID:22737229" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2021-09-29T20:37:16.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032241", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429811" }, "publicationId": "PMID:17349874" }, "phenotypeStatement": "Cervical neoplasm", "dateAssigned": "2021-09-29T20:46:56.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402525444" }, "publicationId": "PMID:17440936" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2024-03-12T17:50:15.000-05:00", "objectId": "HGNC:4087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402528370" }, "publicationId": "PMID:22954510" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-03-13T12:02:55.000-05:00", "objectId": "HGNC:8154" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:4000112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402528370" }, "publicationId": "PMID:22954510" }, "phenotypeStatement": "Medication history", "dateAssigned": "2024-03-13T12:02:55.000-05:00", "objectId": "HGNC:8154" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402528370" }, "publicationId": "PMID:22954510" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-13T12:02:55.000-05:00", "objectId": "HGNC:8154" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429808" }, "publicationId": "PMID:19349983" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2021-09-29T20:38:53.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901909" }, "publicationId": "PMID:28750217" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2023-06-28T12:07:12.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003287", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039387" }, "publicationId": "PMID:28457473" }, "phenotypeStatement": "Abnormality of mitochondrial metabolism", "dateAssigned": "2019-12-04T07:57:44.000-06:00", "objectId": "HGNC:9179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11353457" }, "publicationId": "PMID:26671915" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2023-06-28T10:27:17.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001901", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449376" }, "publicationId": "PMID:23845539" }, "phenotypeStatement": "Polycythemia", "dateAssigned": "2018-10-16T12:39:04.000-05:00", "objectId": "HGNC:6192" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449376" }, "publicationId": "PMID:23845539" }, "phenotypeStatement": "Myelofibrosis", "dateAssigned": "2018-10-16T12:39:04.000-05:00", "objectId": "HGNC:6192" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14985240" }, "publicationId": "PMID:26918371" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-10-15T12:42:12.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11076606" }, "publicationId": "PMID:25920557" }, "phenotypeStatement": "Motor stereotypy", "dateAssigned": "2019-09-18T13:52:25.000-05:00", "objectId": "HGNC:3091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000490", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11076606" }, "publicationId": "PMID:25920557" }, "phenotypeStatement": "Deeply set eye", "dateAssigned": "2019-09-18T13:52:25.000-05:00", "objectId": "HGNC:3091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11076606" }, "publicationId": "PMID:25920557" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2019-09-18T13:52:25.000-05:00", "objectId": "HGNC:3091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11076606" }, "publicationId": "PMID:25920557" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2019-09-18T13:52:25.000-05:00", "objectId": "HGNC:3091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11076606" }, "publicationId": "PMID:25920557" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2019-09-18T13:52:25.000-05:00", "objectId": "HGNC:3091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:407419875" }, "publicationId": "PMID:11509018" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-07-24T11:34:54.000-05:00", "objectId": "HGNC:1569" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011121", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364846" }, "publicationId": "PMID:21357384" }, "phenotypeStatement": "Abnormal skin morphology", "dateAssigned": "2019-09-19T11:48:30.000-05:00", "objectId": "HGNC:320" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033519", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:407419878" }, "publicationId": "PMID:15982448" }, "phenotypeStatement": "Addictive methamphetamine use", "dateAssigned": "2024-07-24T13:10:20.000-05:00", "objectId": "HGNC:391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688760" }, "publicationId": "PMID:18278190" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2019-09-30T14:12:56.000-05:00", "objectId": "HGNC:3694" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002910", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429808" }, "publicationId": "PMID:19349983" }, "phenotypeStatement": "Elevated circulating hepatic transaminase concentration", "dateAssigned": "2021-09-29T20:38:59.000-05:00", "objectId": "HGNC:4940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429775" }, "publicationId": "PMID:31164891" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2021-09-28T15:21:55.000-05:00", "objectId": "HGNC:6693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031417", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147411" }, "publicationId": "PMID:19393422" }, "phenotypeStatement": "Rhinorrhea", "dateAssigned": "2019-06-21T16:00:38.000-05:00", "objectId": "HGNC:13700" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14985244" }, "publicationId": "PMID:24018491" }, "phenotypeStatement": "Hepatic fibrosis", "dateAssigned": "2019-11-11T15:57:20.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012056", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552276" }, "publicationId": "PMID:20653773" }, "phenotypeStatement": "Cutaneous melanoma", "dateAssigned": "2019-08-14T15:06:24.000-05:00", "objectId": "HGNC:1787" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100495", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8549523" }, "publicationId": "PMID:19178408" }, "phenotypeStatement": "Mastocytosis", "dateAssigned": "2019-08-14T15:26:52.000-05:00", "objectId": "HGNC:5973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688363" }, "publicationId": "PMID:18086949" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2019-09-27T15:12:50.000-05:00", "objectId": "HGNC:3402" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001742", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147411" }, "publicationId": "PMID:19393422" }, "phenotypeStatement": "Nasal congestion", "dateAssigned": "2019-06-21T16:00:38.000-05:00", "objectId": "HGNC:13700" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886281" }, "publicationId": "PMID:24376784" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-04T12:56:47.000-06:00", "objectId": "HGNC:18365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011121", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364846" }, "publicationId": "PMID:21357384" }, "phenotypeStatement": "Abnormal skin morphology", "dateAssigned": "2019-09-19T11:28:49.000-05:00", "objectId": "HGNC:11892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005558", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11075089" }, "publicationId": "PMID:22806436" }, "phenotypeStatement": "Chronic leukemia", "dateAssigned": "2019-08-02T12:11:01.000-05:00", "objectId": "HGNC:8803" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Myocarditis", "dateAssigned": "2019-06-21T11:31:06.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Arthritis", "dateAssigned": "2019-06-21T11:31:06.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Chorea", "dateAssigned": "2019-06-21T11:31:06.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694465" }, "publicationId": "PMID:22387454" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-15T11:02:28.000-05:00", "objectId": "HGNC:24040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010783", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Erythema", "dateAssigned": "2019-06-21T11:31:06.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Subcutaneous nodule", "dateAssigned": "2019-06-21T11:31:06.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031417", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655914" }, "publicationId": "PMID:22840759" }, "phenotypeStatement": "Rhinorrhea", "dateAssigned": "2019-06-21T17:31:36.000-05:00", "objectId": "HGNC:5986" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001742", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655914" }, "publicationId": "PMID:22840759" }, "phenotypeStatement": "Nasal congestion", "dateAssigned": "2019-06-21T17:31:36.000-05:00", "objectId": "HGNC:5986" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025095", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655914" }, "publicationId": "PMID:22840759" }, "phenotypeStatement": "Sneeze", "dateAssigned": "2019-06-21T17:31:36.000-05:00", "objectId": "HGNC:5986" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8655914" }, "publicationId": "PMID:22840759" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2019-06-21T17:31:36.000-05:00", "objectId": "HGNC:5986" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002092", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329955464" }, "publicationId": "PMID:30527955" }, "phenotypeStatement": "Pulmonary arterial hypertension", "dateAssigned": "2023-07-12T17:44:53.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688362" }, "publicationId": "PMID:18323494" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2019-09-27T14:39:11.000-05:00", "objectId": "HGNC:3402" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147804" }, "publicationId": "PMID:12373032" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2019-09-30T14:47:52.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002301", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147804" }, "publicationId": "PMID:12373032" }, "phenotypeStatement": "Hemiplegia", "dateAssigned": "2019-09-30T14:47:52.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14985238" }, "publicationId": "PMID:29682247" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2019-10-15T11:24:13.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147920" }, "publicationId": "PMID:20034444" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2019-09-27T16:44:08.000-05:00", "objectId": "HGNC:3616" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147924" }, "publicationId": "PMID:19357503" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2019-09-27T16:57:19.000-05:00", "objectId": "HGNC:3616" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640476655" }, "publicationId": "PMID:27118560" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2026-03-18T12:47:24.000-05:00", "objectId": "HGNC:6932" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886287" }, "publicationId": "PMID:29866411" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-04T23:07:48.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Myocarditis", "dateAssigned": "2019-06-21T11:40:18.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Arthritis", "dateAssigned": "2019-06-21T11:40:18.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Chorea", "dateAssigned": "2019-06-21T11:40:18.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010783", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Erythema", "dateAssigned": "2019-06-21T11:40:18.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147792" }, "publicationId": "PMID:17559688" }, "phenotypeStatement": "Subcutaneous nodule", "dateAssigned": "2019-06-21T11:40:18.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449402" }, "publicationId": "PMID:23665953" }, "phenotypeStatement": "Recurrent aphthous stomatitis", "dateAssigned": "2019-09-27T12:31:51.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000992", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14700883" }, "publicationId": "PMID:26280465" }, "phenotypeStatement": "Cutaneous photosensitivity", "dateAssigned": "2019-08-22T14:25:12.000-05:00", "objectId": "HGNC:3647" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7401222" }, "publicationId": "PMID:21653279" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2019-09-27T11:59:52.000-05:00", "objectId": "HGNC:5992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688727" }, "publicationId": "PMID:20065888" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2019-09-27T14:48:41.000-05:00", "objectId": "HGNC:3402" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640476655" }, "publicationId": "PMID:27118560" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2026-03-18T12:46:25.000-05:00", "objectId": "HGNC:25257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031417", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147798" }, "publicationId": "PMID:14990915" }, "phenotypeStatement": "Rhinorrhea", "dateAssigned": "2019-06-21T15:32:24.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001742", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147798" }, "publicationId": "PMID:14990915" }, "phenotypeStatement": "Nasal congestion", "dateAssigned": "2019-06-21T15:32:24.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147798" }, "publicationId": "PMID:14990915" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2019-06-21T15:32:24.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002577", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147609" }, "publicationId": "PMID:20405713" }, "phenotypeStatement": "Abnormal stomach morphology", "dateAssigned": "2019-09-27T11:50:53.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8695936" }, "publicationId": "PMID:16046581" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2018-05-04T11:37:02.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14985243" }, "publicationId": "PMID:22502666" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2019-10-15T13:13:56.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031417", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8549501" }, "publicationId": "PMID:23996716" }, "phenotypeStatement": "Rhinorrhea", "dateAssigned": "2019-06-21T16:31:51.000-05:00", "objectId": "HGNC:5973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001742", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8549501" }, "publicationId": "PMID:23996716" }, "phenotypeStatement": "Nasal congestion", "dateAssigned": "2019-06-21T16:31:51.000-05:00", "objectId": "HGNC:5973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025095", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8549501" }, "publicationId": "PMID:23996716" }, "phenotypeStatement": "Sneeze", "dateAssigned": "2019-06-21T16:31:51.000-05:00", "objectId": "HGNC:5973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1581452" }, "publicationId": "PMID:16137826" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2019-09-27T12:17:26.000-05:00", "objectId": "HGNC:11453" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031417", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147798" }, "publicationId": "PMID:14990915" }, "phenotypeStatement": "Rhinorrhea", "dateAssigned": "2019-06-21T15:16:45.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001742", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147798" }, "publicationId": "PMID:14990915" }, "phenotypeStatement": "Nasal congestion", "dateAssigned": "2019-06-21T15:16:45.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147798" }, "publicationId": "PMID:14990915" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2019-06-21T15:16:45.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025020", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657378" }, "publicationId": "PMID:19914098" }, "phenotypeStatement": "Elevated prostate-specific antigen level", "dateAssigned": "2019-03-18T14:38:01.000-05:00", "objectId": "HGNC:11458" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5509574" }, "publicationId": "PMID:20691427" }, "phenotypeStatement": "Brain imaging abnormality", "dateAssigned": "2019-06-28T12:54:57.000-05:00", "objectId": "HGNC:1951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200042", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547865" }, "publicationId": "PMID:21455563" }, "phenotypeStatement": "Skin ulcer", "dateAssigned": "2019-09-19T12:04:22.000-05:00", "objectId": "HGNC:7176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011121", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7364846" }, "publicationId": "PMID:21357384" }, "phenotypeStatement": "Abnormal skin morphology", "dateAssigned": "2019-09-18T17:52:41.000-05:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041748" }, "publicationId": "PMID:18689790" }, "phenotypeStatement": "Anemia", "dateAssigned": "2019-04-12T10:18:19.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010702", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041748" }, "publicationId": "PMID:18689790" }, "phenotypeStatement": "Increased circulating immunoglobulin concentration", "dateAssigned": "2019-04-12T10:18:19.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041748" }, "publicationId": "PMID:18689790" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2019-04-12T10:18:19.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001403", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694420" }, "publicationId": "PMID:9453491" }, "phenotypeStatement": "Macrovesicular hepatic steatosis", "dateAssigned": "2018-05-04T11:27:24.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694420" }, "publicationId": "PMID:9453491" }, "phenotypeStatement": "Hepatitis", "dateAssigned": "2018-05-04T11:27:24.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11085239" }, "publicationId": "PMID:25917671" }, "phenotypeStatement": "Lacunar stroke", "dateAssigned": "2023-07-13T16:23:44.000-05:00", "objectId": "HGNC:4814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000639", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491821" }, "publicationId": "PMID:20019752" }, "phenotypeStatement": "Nystagmus", "dateAssigned": "2018-05-17T10:13:40.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000613", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491821" }, "publicationId": "PMID:20019752" }, "phenotypeStatement": "Photophobia", "dateAssigned": "2018-05-17T10:13:40.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000505", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491821" }, "publicationId": "PMID:20019752" }, "phenotypeStatement": "Visual impairment", "dateAssigned": "2018-05-17T10:13:40.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491821" }, "publicationId": "PMID:20019752" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2018-05-17T10:13:40.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901812" }, "publicationId": "PMID:31825269" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2023-06-26T14:26:53.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901812" }, "publicationId": "PMID:31825269" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2023-06-26T14:26:53.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901812" }, "publicationId": "PMID:31825269" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2023-06-26T14:26:53.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003138", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901812" }, "publicationId": "PMID:31825269" }, "phenotypeStatement": "Increased blood urea nitrogen", "dateAssigned": "2023-06-26T14:26:53.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901812" }, "publicationId": "PMID:31825269" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2023-06-26T14:26:53.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901812" }, "publicationId": "PMID:31825269" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2023-06-26T14:26:53.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901812" }, "publicationId": "PMID:31825269" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2023-06-26T14:26:53.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040217", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901812" }, "publicationId": "PMID:31825269" }, "phenotypeStatement": "Elevated hemoglobin A1c", "dateAssigned": "2023-06-26T14:26:53.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002659", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045832" }, "publicationId": "PMID:22807154" }, "phenotypeStatement": "Increased susceptibility to fractures", "dateAssigned": "2019-01-29T15:05:32.000-06:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11040909" }, "publicationId": "PMID:10632111" }, "phenotypeStatement": "Seizure", "dateAssigned": "2018-09-06T13:23:11.000-05:00", "objectId": "HGNC:886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40886288" }, "publicationId": "PMID:24367041" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-12-04T23:17:52.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025020", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207899" }, "publicationId": "PMID:22311043" }, "phenotypeStatement": "Elevated prostate-specific antigen level", "dateAssigned": "2019-03-18T15:37:54.000-05:00", "objectId": "HGNC:11848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000399", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491826" }, "publicationId": "PMID:22575033" }, "phenotypeStatement": "Prelingual sensorineural hearing impairment", "dateAssigned": "2018-05-17T14:37:34.000-05:00", "objectId": "HGNC:8515" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002321", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829747" }, "publicationId": "PMID:19780033" }, "phenotypeStatement": "Vertigo", "dateAssigned": "2018-09-06T11:00:13.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829747" }, "publicationId": "PMID:19780033" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2018-09-06T11:00:13.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484270" }, "publicationId": "PMID:21595954" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-02T12:38:50.000-05:00", "objectId": "HGNC:9237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5687197" }, "publicationId": "PMID:19345444" }, "phenotypeStatement": "Lewy bodies", "dateAssigned": "2019-02-11T13:56:56.000-06:00", "objectId": "HGNC:3342" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5687197" }, "publicationId": "PMID:19345444" }, "phenotypeStatement": "Neurodegeneration", "dateAssigned": "2019-02-11T13:56:56.000-06:00", "objectId": "HGNC:3342" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490541" }, "publicationId": "PMID:20473910" }, "phenotypeStatement": "Lymphoma", "dateAssigned": "2019-08-15T12:38:52.000-05:00", "objectId": "HGNC:11919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030828", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:4889589" }, "publicationId": "PMID:18305139" }, "phenotypeStatement": "Wheezing", "dateAssigned": "2026-03-02T13:43:24.000-06:00", "objectId": "HGNC:5318" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000505", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491836" }, "publicationId": "PMID:12469324" }, "phenotypeStatement": "Visual impairment", "dateAssigned": "2018-05-18T15:23:41.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005599", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491836" }, "publicationId": "PMID:12469324" }, "phenotypeStatement": "Hypopigmentation of hair", "dateAssigned": "2018-05-18T15:23:41.000-05:00", "objectId": "HGNC:8101" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662462" }, "publicationId": "PMID:23666708" }, "phenotypeStatement": "Age-related cataract", "dateAssigned": "2019-08-26T17:15:22.000-05:00", "objectId": "HGNC:5233" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662462" }, "publicationId": "PMID:23666708" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2019-08-26T17:15:22.000-05:00", "objectId": "HGNC:5233" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827096" }, "publicationId": "PMID:24767290" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-09-20T09:06:58.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827098" }, "publicationId": "PMID:19727231" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2023-09-20T09:45:07.000-05:00", "objectId": "HGNC:4931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100705", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358568" }, "publicationId": "PMID:12540498" }, "phenotypeStatement": "Abnormal glial cell morphology", "dateAssigned": "2017-08-30T15:35:00.000-05:00", "objectId": "HGNC:2631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000759", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358568" }, "publicationId": "PMID:12540498" }, "phenotypeStatement": "Abnormal peripheral nervous system morphology", "dateAssigned": "2017-08-30T15:50:53.000-05:00", "objectId": "HGNC:2631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8157635" }, "publicationId": "PMID:24320988" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-07-31T17:24:18.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158072" }, "publicationId": "PMID:15864137" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-07-31T17:17:03.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002861", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429775" }, "publicationId": "PMID:31164891" }, "phenotypeStatement": "Melanoma", "dateAssigned": "2021-09-28T15:21:49.000-05:00", "objectId": "HGNC:6693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012214", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696732" }, "publicationId": "PMID:25664255" }, "phenotypeStatement": "Increased glomerular filtration rate", "dateAssigned": "2019-07-22T12:12:12.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147797" }, "publicationId": "PMID:15009387" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T14:05:57.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012125", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694410" }, "publicationId": "PMID:21397927" }, "phenotypeStatement": "Prostate cancer", "dateAssigned": "2019-08-01T17:16:05.000-05:00", "objectId": "HGNC:13633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6483459" }, "publicationId": "PMID:21445332" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2019-08-01T17:45:07.000-05:00", "objectId": "HGNC:6953" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1547879" }, "publicationId": "PMID:15153543" }, "phenotypeStatement": "Arthritis", "dateAssigned": "2017-08-30T18:08:51.000-05:00", "objectId": "HGNC:3618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003493", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1547879" }, "publicationId": "PMID:15153543" }, "phenotypeStatement": "Antinuclear antibody positivity", "dateAssigned": "2017-08-30T18:08:51.000-05:00", "objectId": "HGNC:3618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002715", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1547879" }, "publicationId": "PMID:15153543" }, "phenotypeStatement": "Abnormality of the immune system", "dateAssigned": "2017-08-30T18:08:51.000-05:00", "objectId": "HGNC:3618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175279" }, "publicationId": "PMID:21115670" }, "phenotypeStatement": "Polycystic kidney dysplasia", "dateAssigned": "2019-08-02T10:54:43.000-05:00", "objectId": "HGNC:9009" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175279" }, "publicationId": "PMID:21115670" }, "phenotypeStatement": "Polycystic kidney dysplasia", "dateAssigned": "2019-08-02T10:59:34.000-05:00", "objectId": "HGNC:9008" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073691" }, "publicationId": "PMID:18314446" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-02T12:54:17.000-05:00", "objectId": "HGNC:7856" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588626" }, "publicationId": "PMID:21327084" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2018-06-12T11:44:07.000-05:00", "objectId": "HGNC:6518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588626" }, "publicationId": "PMID:21327084" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2018-06-12T11:44:07.000-05:00", "objectId": "HGNC:6518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010766", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588626" }, "publicationId": "PMID:21327084" }, "phenotypeStatement": "Ectopic calcification", "dateAssigned": "2018-06-12T11:44:07.000-05:00", "objectId": "HGNC:6518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9588626" }, "publicationId": "PMID:21327084" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2018-06-12T11:44:07.000-05:00", "objectId": "HGNC:6518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358615" }, "publicationId": "PMID:11129341" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2017-08-30T15:58:52.000-05:00", "objectId": "HGNC:11920" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011400", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358622" }, "publicationId": "PMID:11438180" }, "phenotypeStatement": "Abnormal CNS myelination", "dateAssigned": "2017-08-30T16:36:37.000-05:00", "objectId": "HGNC:11936" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1547880" }, "publicationId": "PMID:15895258" }, "phenotypeStatement": "Arthritis", "dateAssigned": "2017-08-30T18:17:31.000-05:00", "objectId": "HGNC:3618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003493", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1547880" }, "publicationId": "PMID:15895258" }, "phenotypeStatement": "Antinuclear antibody positivity", "dateAssigned": "2017-08-30T18:17:31.000-05:00", "objectId": "HGNC:3618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002715", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1547880" }, "publicationId": "PMID:15895258" }, "phenotypeStatement": "Abnormality of the immune system", "dateAssigned": "2017-08-30T18:17:31.000-05:00", "objectId": "HGNC:3618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025569", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411694" }, "publicationId": "PMID:22232432" }, "phenotypeStatement": "Polypoidal choroidal vasculopathy", "dateAssigned": "2018-08-27T12:57:21.000-05:00", "objectId": "HGNC:1037" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601085" }, "publicationId": "PMID:16461442" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2018-10-31T14:58:05.000-05:00", "objectId": "HGNC:270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147995" }, "publicationId": "PMID:17082469" }, "phenotypeStatement": "Increased carotid artery intimal medial thickness", "dateAssigned": "2018-10-22T14:20:49.000-05:00", "objectId": "HGNC:243" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411713" }, "publicationId": "PMID:18806293" }, "phenotypeStatement": "Drusen", "dateAssigned": "2018-08-27T13:14:46.000-05:00", "objectId": "HGNC:1037" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041748" }, "publicationId": "PMID:18689790" }, "phenotypeStatement": "Reticulocytopenia", "dateAssigned": "2019-04-12T10:21:09.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041748" }, "publicationId": "PMID:18689790" }, "phenotypeStatement": "Anemia", "dateAssigned": "2019-04-12T10:21:09.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010702", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041748" }, "publicationId": "PMID:18689790" }, "phenotypeStatement": "Increased circulating immunoglobulin concentration", "dateAssigned": "2019-04-12T10:21:09.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031700", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041793" }, "publicationId": "PMID:24478401" }, "phenotypeStatement": "Invasive parasitic infection", "dateAssigned": "2018-08-31T15:03:23.000-05:00", "objectId": "HGNC:5141" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031700", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449111" }, "publicationId": "PMID:25015414" }, "phenotypeStatement": "Invasive parasitic infection", "dateAssigned": "2018-08-31T12:05:22.000-05:00", "objectId": "HGNC:4057" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449111" }, "publicationId": "PMID:25015414" }, "phenotypeStatement": "Fever", "dateAssigned": "2018-08-31T12:05:22.000-05:00", "objectId": "HGNC:4057" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147927" }, "publicationId": "PMID:18194515" }, "phenotypeStatement": "Fever", "dateAssigned": "2018-08-31T12:51:37.000-05:00", "objectId": "HGNC:3616" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031700", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147927" }, "publicationId": "PMID:18194515" }, "phenotypeStatement": "Invasive parasitic infection", "dateAssigned": "2018-08-31T12:51:37.000-05:00", "objectId": "HGNC:3616" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031700", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449115" }, "publicationId": "PMID:24615128" }, "phenotypeStatement": "Invasive parasitic infection", "dateAssigned": "2018-08-31T12:28:35.000-05:00", "objectId": "HGNC:4057" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449115" }, "publicationId": "PMID:24615128" }, "phenotypeStatement": "Fever", "dateAssigned": "2018-08-31T12:28:35.000-05:00", "objectId": "HGNC:4057" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10401083" }, "publicationId": "PMID:21599457" }, "phenotypeStatement": "Age-related cataract", "dateAssigned": "2019-08-26T18:01:02.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045665" }, "publicationId": "PMID:23137636" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-22T12:13:09.000-06:00", "objectId": "HGNC:1043" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045826" }, "publicationId": "PMID:20116372" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-23T15:20:34.000-06:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045664" }, "publicationId": "PMID:17325140" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T16:18:26.000-05:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411715" }, "publicationId": "PMID:20157618" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-15T10:16:54.000-05:00", "objectId": "HGNC:1318" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661711" }, "publicationId": "PMID:19950257" }, "phenotypeStatement": "Scleroderma", "dateAssigned": "2019-08-23T10:23:32.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041180" }, "publicationId": "PMID:19143970" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-22T13:15:43.000-06:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045665" }, "publicationId": "PMID:23137636" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-23T12:55:30.000-06:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11038717" }, "publicationId": "PMID:16217763" }, "phenotypeStatement": "Lymphoma", "dateAssigned": "2019-08-15T12:35:27.000-05:00", "objectId": "HGNC:11904" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411720" }, "publicationId": "PMID:23233260" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-15T10:05:23.000-05:00", "objectId": "HGNC:1037" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411720" }, "publicationId": "PMID:23233260" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-15T10:56:24.000-05:00", "objectId": "HGNC:1248" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000532", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411728" }, "publicationId": "PMID:19001225" }, "phenotypeStatement": "Abnormal chorioretinal morphology", "dateAssigned": "2018-09-12T13:46:11.000-05:00", "objectId": "HGNC:4883" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411728" }, "publicationId": "PMID:19001225" }, "phenotypeStatement": "Uveitis", "dateAssigned": "2018-09-12T13:46:11.000-05:00", "objectId": "HGNC:4883" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5686816" }, "publicationId": "PMID:19065146" }, "phenotypeStatement": "Brain imaging abnormality", "dateAssigned": "2019-06-28T12:43:50.000-05:00", "objectId": "HGNC:21035" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200127", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40902867" }, "publicationId": "PMID:29080865" }, "phenotypeStatement": "Atrial cardiomyopathy", "dateAssigned": "2021-02-04T14:09:31.000-06:00", "objectId": "HGNC:7585" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001271", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147579" }, "publicationId": "PMID:20211906" }, "phenotypeStatement": "Polyneuropathy", "dateAssigned": "2019-08-02T10:13:23.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7175273" }, "publicationId": "PMID:22863349" }, "phenotypeStatement": "Polycystic kidney dysplasia", "dateAssigned": "2019-08-02T10:56:13.000-05:00", "objectId": "HGNC:9009" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031678", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688389" }, "publicationId": "PMID:16545818" }, "phenotypeStatement": "Atherosclerotic lesion", "dateAssigned": "2019-08-02T11:11:57.000-05:00", "objectId": "HGNC:3402" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012056", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8549726" }, "publicationId": "PMID:20655738" }, "phenotypeStatement": "Cutaneous melanoma", "dateAssigned": "2019-08-13T17:56:39.000-05:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012056", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8547698" }, "publicationId": "PMID:16313300" }, "phenotypeStatement": "Cutaneous melanoma", "dateAssigned": "2019-08-14T12:38:24.000-05:00", "objectId": "HGNC:5344" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11041888" }, "publicationId": "PMID:11307152" }, "phenotypeStatement": "Multiple myeloma", "dateAssigned": "2019-08-13T16:16:33.000-05:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000979", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147830" }, "publicationId": "PMID:11836690" }, "phenotypeStatement": "Purpura", "dateAssigned": "2019-07-31T16:18:47.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100847", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548804" }, "publicationId": "PMID:12691703" }, "phenotypeStatement": "Palmoplantar pustulosis", "dateAssigned": "2019-07-31T18:07:46.000-05:00", "objectId": "HGNC:11892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012125", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:734811" }, "publicationId": "PMID:11752579" }, "phenotypeStatement": "Prostate cancer", "dateAssigned": "2019-08-01T16:51:53.000-05:00", "objectId": "HGNC:2235" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012125", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5688739" }, "publicationId": "PMID:17695467" }, "phenotypeStatement": "Prostate cancer", "dateAssigned": "2019-08-01T16:55:28.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012125", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8694410" }, "publicationId": "PMID:21397927" }, "phenotypeStatement": "Prostate cancer", "dateAssigned": "2019-08-01T17:03:12.000-05:00", "objectId": "HGNC:24040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:737707" }, "publicationId": "PMID:11826024" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2019-08-01T17:35:37.000-05:00", "objectId": "HGNC:4638" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640480043" }, "publicationId": "PMID:20562129" }, "phenotypeStatement": "Reduced forced expiratory volume in one second", "dateAssigned": "2026-03-25T14:30:47.000-05:00", "objectId": "HGNC:4187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045839" }, "publicationId": "PMID:17953702" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-23T15:58:44.000-06:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045847" }, "publicationId": "PMID:17945165" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-25T14:37:18.000-06:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045825" }, "publicationId": "PMID:16530497" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-25T12:10:11.000-06:00", "objectId": "HGNC:8001" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045838" }, "publicationId": "PMID:16972020" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-25T14:07:52.000-06:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661638" }, "publicationId": "PMID:20576771" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T15:54:22.000-05:00", "objectId": "HGNC:1228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11051973" }, "publicationId": "PMID:17926179" }, "phenotypeStatement": "Multiple myeloma", "dateAssigned": "2019-08-13T15:38:56.000-05:00", "objectId": "HGNC:5992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005523", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684949" }, "publicationId": "PMID:16734634" }, "phenotypeStatement": "Lymphoproliferative disorder", "dateAssigned": "2019-08-15T11:19:03.000-05:00", "objectId": "HGNC:10907" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005558", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11075089" }, "publicationId": "PMID:22806436" }, "phenotypeStatement": "Chronic leukemia", "dateAssigned": "2019-08-02T12:13:26.000-05:00", "objectId": "HGNC:19124" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012184", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901816" }, "publicationId": "PMID:27087001" }, "phenotypeStatement": "Increased HDL cholesterol concentration", "dateAssigned": "2023-06-27T11:29:57.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010980", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901837" }, "publicationId": "PMID:28035729" }, "phenotypeStatement": "Hyperlipoproteinemia", "dateAssigned": "2023-06-27T13:20:18.000-05:00", "objectId": "HGNC:11621" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000093", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7244138" }, "publicationId": "PMID:12900808" }, "phenotypeStatement": "Proteinuria", "dateAssigned": "2018-11-29T15:50:33.000-06:00", "objectId": "HGNC:11368" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003073", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7244138" }, "publicationId": "PMID:12900808" }, "phenotypeStatement": "Hypoalbuminemia", "dateAssigned": "2018-11-29T15:50:33.000-06:00", "objectId": "HGNC:11368" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002060", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463963" }, "publicationId": "PMID:23427138" }, "phenotypeStatement": "Abnormal cerebral morphology", "dateAssigned": "2024-03-08T15:39:40.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030860", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463963" }, "publicationId": "PMID:23427138" }, "phenotypeStatement": "Abnormal CSF amyloid concentration", "dateAssigned": "2024-03-08T15:39:40.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045825" }, "publicationId": "PMID:16530497" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-23T14:15:51.000-06:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449397" }, "publicationId": "PMID:24839819" }, "phenotypeStatement": "Multiple myeloma", "dateAssigned": "2019-08-13T15:30:59.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11051973" }, "publicationId": "PMID:17926179" }, "phenotypeStatement": "Multiple myeloma", "dateAssigned": "2019-08-13T15:34:12.000-05:00", "objectId": "HGNC:6000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696696" }, "publicationId": "PMID:23278404" }, "phenotypeStatement": "Hepatic fibrosis", "dateAssigned": "2019-07-15T17:20:38.000-05:00", "objectId": "HGNC:6554" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827277" }, "publicationId": "PMID:17131345" }, "phenotypeStatement": "Multiple myeloma", "dateAssigned": "2023-09-27T14:59:27.000-05:00", "objectId": "HGNC:24219" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045825" }, "publicationId": "PMID:16530497" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-23T17:12:39.000-06:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10043197" }, "publicationId": "PMID:14667136" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2019-01-25T15:52:47.000-06:00", "objectId": "HGNC:644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002659", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10043197" }, "publicationId": "PMID:14667136" }, "phenotypeStatement": "Increased susceptibility to fractures", "dateAssigned": "2019-01-25T15:52:47.000-06:00", "objectId": "HGNC:644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002206", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661701" }, "publicationId": "PMID:23755762" }, "phenotypeStatement": "Pulmonary fibrosis", "dateAssigned": "2019-07-26T13:53:54.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147581" }, "publicationId": "PMID:20191587" }, "phenotypeStatement": "Systemic lupus erythematosus", "dateAssigned": "2019-08-13T12:41:48.000-05:00", "objectId": "HGNC:4948" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11049156" }, "publicationId": "PMID:25469832" }, "phenotypeStatement": "Multiple myeloma", "dateAssigned": "2019-08-13T15:45:02.000-05:00", "objectId": "HGNC:5991" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012056", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8157629" }, "publicationId": "PMID:16990805" }, "phenotypeStatement": "Cutaneous melanoma", "dateAssigned": "2019-08-13T17:52:10.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012056", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8549727" }, "publicationId": "PMID:22198560" }, "phenotypeStatement": "Cutaneous melanoma", "dateAssigned": "2019-08-13T17:54:44.000-05:00", "objectId": "HGNC:7155" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012056", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552302" }, "publicationId": "PMID:10338331" }, "phenotypeStatement": "Cutaneous melanoma", "dateAssigned": "2019-08-14T14:46:49.000-05:00", "objectId": "HGNC:1787" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012056", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491398" }, "publicationId": "PMID:17169533" }, "phenotypeStatement": "Cutaneous melanoma", "dateAssigned": "2019-08-14T15:20:58.000-05:00", "objectId": "HGNC:10618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508704" }, "publicationId": "PMID:19434233" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T16:08:43.000-05:00", "objectId": "HGNC:7459" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9479078" }, "publicationId": "PMID:15944936" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T16:27:26.000-05:00", "objectId": "HGNC:2558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662313" }, "publicationId": "PMID:23685748" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T16:46:05.000-05:00", "objectId": "HGNC:5394" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411691" }, "publicationId": "PMID:23112567" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-15T10:11:04.000-05:00", "objectId": "HGNC:1037" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411692" }, "publicationId": "PMID:17576744" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-15T10:45:44.000-05:00", "objectId": "HGNC:1248" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14389730" }, "publicationId": "PMID:19925850" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-02T12:34:54.000-05:00", "objectId": "HGNC:11741" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045828" }, "publicationId": "PMID:17896124" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-23T15:47:31.000-06:00", "objectId": "HGNC:3467" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158082" }, "publicationId": "PMID:16604479" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-01-29T13:55:42.000-06:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001300", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482733" }, "publicationId": "PMID:20938027" }, "phenotypeStatement": "Parkinsonism", "dateAssigned": "2019-08-02T12:50:17.000-05:00", "objectId": "HGNC:9039" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030859", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661701" }, "publicationId": "PMID:23755762" }, "phenotypeStatement": "Anti-topoisomerase I antibody positivity", "dateAssigned": "2019-07-26T13:53:11.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100847", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548804" }, "publicationId": "PMID:12691703" }, "phenotypeStatement": "Palmoplantar pustulosis", "dateAssigned": "2019-03-22T10:04:11.000-05:00", "objectId": "HGNC:6709" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045849" }, "publicationId": "PMID:22335445" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-02-01T12:19:58.000-06:00", "objectId": "HGNC:3468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039399" }, "publicationId": "PMID:28452232" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2020-02-28T15:16:36.000-06:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012202", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14402415" }, "publicationId": "PMID:29755014" }, "phenotypeStatement": "Increased serum bile acid concentration", "dateAssigned": "2019-05-31T11:19:28.000-05:00", "objectId": "HGNC:42" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030965", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14700976" }, "publicationId": "PMID:29452132" }, "phenotypeStatement": "Aortic stiffness", "dateAssigned": "2019-08-30T12:22:16.000-05:00", "objectId": "HGNC:4632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14348951" }, "publicationId": "PMID:30013441" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2019-02-01T09:57:31.000-06:00", "objectId": "HGNC:369" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11035299" }, "publicationId": "PMID:26336112" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-02-01T10:53:46.000-06:00", "objectId": "HGNC:11180" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5509076" }, "publicationId": "PMID:18395980" }, "phenotypeStatement": "Neurodegeneration", "dateAssigned": "2019-02-08T12:16:08.000-06:00", "objectId": "HGNC:391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5509076" }, "publicationId": "PMID:18395980" }, "phenotypeStatement": "Lewy bodies", "dateAssigned": "2019-02-08T12:16:08.000-06:00", "objectId": "HGNC:391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012125", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6893648" }, "publicationId": "PMID:22542949" }, "phenotypeStatement": "Prostate cancer", "dateAssigned": "2019-08-01T16:43:54.000-05:00", "objectId": "HGNC:11458" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012125", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657136" }, "publicationId": "PMID:24649009" }, "phenotypeStatement": "Prostate cancer", "dateAssigned": "2019-08-01T16:48:21.000-05:00", "objectId": "HGNC:8125" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6892707" }, "publicationId": "PMID:22190368" }, "phenotypeStatement": "Bradykinesia", "dateAssigned": "2019-02-08T12:39:45.000-06:00", "objectId": "HGNC:483" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8157633" }, "publicationId": "PMID:17763859" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-07-31T17:28:47.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032306", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14696817" }, "publicationId": "PMID:18592362" }, "phenotypeStatement": "Elevated circulating mannose-binding protein concentration", "dateAssigned": "2019-07-29T15:32:28.000-05:00", "objectId": "HGNC:6922" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045849" }, "publicationId": "PMID:22335445" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-02-01T11:22:03.000-06:00", "objectId": "HGNC:1068" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004944", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329955465" }, "publicationId": "PMID:20364137" }, "phenotypeStatement": "Dilatation of the cerebral artery", "dateAssigned": "2023-07-12T18:14:03.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827912" }, "publicationId": "PMID:12752570" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2023-10-05T16:05:16.000-05:00", "objectId": "HGNC:11289" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827912" }, "publicationId": "PMID:12752570" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2023-10-05T16:05:16.000-05:00", "objectId": "HGNC:11289" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:596948391" }, "publicationId": "PMID:31711042" }, "phenotypeStatement": "Ventriculomegaly", "dateAssigned": "2025-01-07T12:18:47.000-06:00", "objectId": "HGNC:16443" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039399" }, "publicationId": "PMID:28452232" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2020-02-28T15:19:19.000-06:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039399" }, "publicationId": "PMID:28452232" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2020-02-28T15:19:19.000-06:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039399" }, "publicationId": "PMID:28452232" }, "phenotypeStatement": "Increased total bilirubin", "dateAssigned": "2020-02-28T15:19:19.000-06:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039399" }, "publicationId": "PMID:28452232" }, "phenotypeStatement": "Hyperalbuminemia", "dateAssigned": "2020-02-28T15:19:19.000-06:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410371", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039399" }, "publicationId": "PMID:28452232" }, "phenotypeStatement": "Increased hepatitis C virus antibody level", "dateAssigned": "2020-02-28T15:19:19.000-06:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006254", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039399" }, "publicationId": "PMID:28452232" }, "phenotypeStatement": "Elevated circulating alpha-fetoprotein concentration", "dateAssigned": "2020-02-28T15:19:19.000-06:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005542", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:15039399" }, "publicationId": "PMID:28452232" }, "phenotypeStatement": "Prolonged whole-blood clotting time", "dateAssigned": "2020-02-28T15:19:19.000-06:00", "objectId": "HGNC:6553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827275" }, "publicationId": "PMID:30472145" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-09-27T13:16:54.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000488", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827275" }, "publicationId": "PMID:30472145" }, "phenotypeStatement": "Retinopathy", "dateAssigned": "2023-09-27T13:16:54.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000939", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10045849" }, "publicationId": "PMID:22335445" }, "phenotypeStatement": "Osteoporosis", "dateAssigned": "2019-02-01T12:26:12.000-06:00", "objectId": "HGNC:8001" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001679", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794441" }, "publicationId": "PMID:30354298" }, "phenotypeStatement": "Abnormal aortic morphology", "dateAssigned": "2023-09-15T12:46:00.000-05:00", "objectId": "HGNC:11645" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10449450" }, "publicationId": "PMID:12200397" }, "phenotypeStatement": "Multiple myeloma", "dateAssigned": "2019-08-13T13:28:43.000-05:00", "objectId": "HGNC:11892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10769348" }, "publicationId": "PMID:18156703" }, "phenotypeStatement": "Multiple myeloma", "dateAssigned": "2019-08-13T15:22:03.000-05:00", "objectId": "HGNC:2874" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002083", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490245" }, "publicationId": "PMID:12873747" }, "phenotypeStatement": "Migraine without aura", "dateAssigned": "2019-08-13T16:30:39.000-05:00", "objectId": "HGNC:6547" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600504" }, "publicationId": "PMID:15004558" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2019-08-13T17:24:00.000-05:00", "objectId": "HGNC:20893" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11051973" }, "publicationId": "PMID:17926179" }, "phenotypeStatement": "Multiple myeloma", "dateAssigned": "2019-08-13T15:40:58.000-05:00", "objectId": "HGNC:5991" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012056", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8158068" }, "publicationId": "PMID:10690530" }, "phenotypeStatement": "Cutaneous melanoma", "dateAssigned": "2019-08-14T14:33:24.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661640" }, "publicationId": "PMID:20606025" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T15:47:41.000-05:00", "objectId": "HGNC:1228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411714" }, "publicationId": "PMID:19696172" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-15T10:08:18.000-05:00", "objectId": "HGNC:1037" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025569", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411726" }, "publicationId": "PMID:18515590" }, "phenotypeStatement": "Polypoidal choroidal vasculopathy", "dateAssigned": "2019-08-01T17:53:53.000-05:00", "objectId": "HGNC:4883" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033678", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827273" }, "publicationId": "PMID:23368530" }, "phenotypeStatement": "Acute coronary syndrome", "dateAssigned": "2023-09-27T11:46:17.000-05:00", "objectId": "HGNC:8125" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827273" }, "publicationId": "PMID:23368530" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2023-09-27T11:28:46.000-05:00", "objectId": "HGNC:12830" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827274" }, "publicationId": "PMID:18330515" }, "phenotypeStatement": "Glioma", "dateAssigned": "2023-09-27T13:04:39.000-05:00", "objectId": "HGNC:12830" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002858", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827274" }, "publicationId": "PMID:18330515" }, "phenotypeStatement": "Meningioma", "dateAssigned": "2023-09-27T13:04:39.000-05:00", "objectId": "HGNC:12830" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827819" }, "publicationId": "PMID:25529925" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2023-09-28T16:30:19.000-05:00", "objectId": "HGNC:2874" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552306" }, "publicationId": "PMID:20118908" }, "phenotypeStatement": "Lymphoma", "dateAssigned": "2019-08-15T12:28:29.000-05:00", "objectId": "HGNC:1788" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8552306" }, "publicationId": "PMID:20118908" }, "phenotypeStatement": "Lymphoma", "dateAssigned": "2019-08-15T12:29:56.000-05:00", "objectId": "HGNC:1787" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771558" }, "publicationId": "PMID:23276910" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T16:01:37.000-05:00", "objectId": "HGNC:2874" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7771558" }, "publicationId": "PMID:23276910" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T16:04:35.000-05:00", "objectId": "HGNC:7782" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657039" }, "publicationId": "PMID:18359774" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T16:15:37.000-05:00", "objectId": "HGNC:7166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005523", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482811" }, "publicationId": "PMID:20019066" }, "phenotypeStatement": "Lymphoproliferative disorder", "dateAssigned": "2019-08-15T11:15:19.000-05:00", "objectId": "HGNC:9360" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827274" }, "publicationId": "PMID:18330515" }, "phenotypeStatement": "Glioma", "dateAssigned": "2023-09-27T12:32:39.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002858", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827274" }, "publicationId": "PMID:18330515" }, "phenotypeStatement": "Meningioma", "dateAssigned": "2023-09-27T12:32:39.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827277" }, "publicationId": "PMID:17131345" }, "phenotypeStatement": "Multiple myeloma", "dateAssigned": "2023-09-27T14:42:59.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401827277" }, "publicationId": "PMID:17131345" }, "phenotypeStatement": "Multiple myeloma", "dateAssigned": "2023-09-27T17:41:40.000-05:00", "objectId": "HGNC:12830" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8548775" }, "publicationId": "PMID:12709814" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T13:19:40.000-05:00", "objectId": "HGNC:6709" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829764" }, "publicationId": "PMID:18923449" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T13:05:42.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829762" }, "publicationId": "PMID:18341666" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T13:09:53.000-05:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8549593" }, "publicationId": "PMID:23617596" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T13:32:51.000-05:00", "objectId": "HGNC:5973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012125", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207899" }, "publicationId": "PMID:22311043" }, "phenotypeStatement": "Prostate cancer", "dateAssigned": "2019-08-01T16:30:28.000-05:00", "objectId": "HGNC:11848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7829824" }, "publicationId": "PMID:11298547" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T13:48:28.000-05:00", "objectId": "HGNC:5962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491384" }, "publicationId": "PMID:17002687" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T14:12:00.000-05:00", "objectId": "HGNC:2558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661715" }, "publicationId": "PMID:19500629" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T12:55:58.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147797" }, "publicationId": "PMID:15009387" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T14:04:11.000-05:00", "objectId": "HGNC:4944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147677" }, "publicationId": "PMID:12713578" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T14:09:00.000-05:00", "objectId": "HGNC:2595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7411727" }, "publicationId": "PMID:6559061" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T15:11:51.000-05:00", "objectId": "HGNC:1037" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5490300" }, "publicationId": "PMID:21645569" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2019-08-01T15:14:03.000-05:00", "objectId": "HGNC:11919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012125", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8657378" }, "publicationId": "PMID:19914098" }, "phenotypeStatement": "Prostate cancer", "dateAssigned": "2019-08-01T16:47:09.000-05:00", "objectId": "HGNC:8125" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10401085" }, "publicationId": "PMID:20375340" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T16:20:31.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662321" }, "publicationId": "PMID:22815349" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T16:42:26.000-05:00", "objectId": "HGNC:5394" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:9491390" }, "publicationId": "PMID:15208270" }, "phenotypeStatement": "Macular degeneration", "dateAssigned": "2019-08-14T16:25:18.000-05:00", "objectId": "HGNC:2558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640209581" }, "publicationId": "PMID:15764725" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2026-03-05T12:13:12.000-06:00", "objectId": "HGNC:23631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012125", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6906901" }, "publicationId": "PMID:20663522" }, "phenotypeStatement": "Prostate cancer", "dateAssigned": "2019-08-01T16:58:32.000-05:00", "objectId": "HGNC:1929" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012125", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5509093" }, "publicationId": "PMID:21430300" }, "phenotypeStatement": "Prostate cancer", "dateAssigned": "2019-08-01T17:06:51.000-05:00", "objectId": "HGNC:391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10755491" }, "publicationId": "PMID:19258483" }, "phenotypeStatement": "Myelofibrosis", "dateAssigned": "2019-08-01T17:25:57.000-05:00", "objectId": "HGNC:4886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6001277", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:634726643" }, "publicationId": "PMID:19996348" }, "phenotypeStatement": "Abnormal methacholine challenge test", "dateAssigned": "2026-03-03T14:51:15.000-06:00", "objectId": "HGNC:15478" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8661700" }, "publicationId": "PMID:19644887" }, "phenotypeStatement": "Scleroderma", "dateAssigned": "2019-08-23T10:19:05.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6482720" }, "publicationId": "PMID:20463618" }, "phenotypeStatement": "Neonatal sepsis", "dateAssigned": "2019-08-28T13:25:29.000-05:00", "objectId": "HGNC:9031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10401084" }, "publicationId": "PMID:24868140" }, "phenotypeStatement": "Age-related cataract", "dateAssigned": "2019-08-26T16:49:58.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000504", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10401084" }, "publicationId": "PMID:24868140" }, "phenotypeStatement": "Abnormality of vision", "dateAssigned": "2019-08-26T16:49:58.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147794" }, "publicationId": "PMID:16234023" }, "phenotypeStatement": "Lymphoma", "dateAssigned": "2019-08-15T12:47:54.000-05:00", "objectId": "HGNC:4942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5686347" }, "publicationId": "PMID:18794762" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2019-08-23T10:38:29.000-05:00", "objectId": "HGNC:12008" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10042984" }, "publicationId": "PMID:23334603" }, "phenotypeStatement": "Age-related cataract", "dateAssigned": "2019-08-26T17:29:53.000-05:00", "objectId": "HGNC:12791" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10042984" }, "publicationId": "PMID:23334603" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2019-08-26T17:29:53.000-05:00", "objectId": "HGNC:12791" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10401084" }, "publicationId": "PMID:24868140" }, "phenotypeStatement": "Age-related cataract", "dateAssigned": "2019-08-26T17:22:48.000-05:00", "objectId": "HGNC:8125" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000504", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:10401084" }, "publicationId": "PMID:24868140" }, "phenotypeStatement": "Abnormality of vision", "dateAssigned": "2019-08-26T17:22:48.000-05:00", "objectId": "HGNC:8125" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200042", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340581" }, "publicationId": "PMID:22958291" }, "phenotypeStatement": "Skin ulcer", "dateAssigned": "2021-08-17T08:51:15.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662866" }, "publicationId": "PMID:19420365" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2019-08-28T13:53:04.000-05:00", "objectId": "HGNC:6256" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662866" }, "publicationId": "PMID:19420365" }, "phenotypeStatement": "Seizure", "dateAssigned": "2019-08-28T13:53:04.000-05:00", "objectId": "HGNC:6256" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662866" }, "publicationId": "PMID:19420365" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2019-08-28T13:53:04.000-05:00", "objectId": "HGNC:6256" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001960", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662866" }, "publicationId": "PMID:19420365" }, "phenotypeStatement": "Hypokalemic metabolic alkalosis", "dateAssigned": "2019-08-28T13:53:04.000-05:00", "objectId": "HGNC:6256" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002917", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662866" }, "publicationId": "PMID:19420365" }, "phenotypeStatement": "Hypomagnesemia", "dateAssigned": "2019-08-28T13:53:04.000-05:00", "objectId": "HGNC:6256" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003127", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:8662866" }, "publicationId": "PMID:19420365" }, "phenotypeStatement": "Hypocalciuria", "dateAssigned": "2019-08-28T13:53:04.000-05:00", "objectId": "HGNC:6256" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6903268" }, "publicationId": "PMID:17202308" }, "phenotypeStatement": "Shock", "dateAssigned": "2019-08-28T17:55:04.000-05:00", "objectId": "HGNC:6922" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032262", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340584" }, "publicationId": "PMID:26542219" }, "phenotypeStatement": "Pulmonary tuberculosis", "dateAssigned": "2021-08-17T09:10:11.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100806", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508752" }, "publicationId": "PMID:21460759" }, "phenotypeStatement": "Sepsis", "dateAssigned": "2019-08-28T12:36:26.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5147601" }, "publicationId": "PMID:12771604" }, "phenotypeStatement": "Shock", "dateAssigned": "2019-08-28T17:34:25.000-05:00", "objectId": "HGNC:5233" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410371", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38676455" }, "publicationId": "PMID:25700262" }, "phenotypeStatement": "Increased hepatitis C virus antibody level", "dateAssigned": "2021-08-17T09:30:37.000-05:00", "objectId": "HGNC:6340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025521", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640476581" }, "publicationId": "PMID:29311636" }, "phenotypeStatement": "Increased body fat percentage", "dateAssigned": "2026-03-09T15:59:47.000-05:00", "objectId": "HGNC:234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640476581" }, "publicationId": "PMID:29311636" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2026-03-09T15:59:47.000-05:00", "objectId": "HGNC:234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640476581" }, "publicationId": "PMID:29311636" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2026-03-09T15:59:47.000-05:00", "objectId": "HGNC:234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640476581" }, "publicationId": "PMID:29311636" }, "phenotypeStatement": "Abnormal circulating lipid concentration", "dateAssigned": "2026-03-09T15:59:47.000-05:00", "objectId": "HGNC:234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:635259248" }, "publicationId": "PMID:17210045" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2026-03-03T16:54:23.000-06:00", "objectId": "HGNC:23631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030828", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:635417250" }, "publicationId": "PMID:19237393" }, "phenotypeStatement": "Wheezing", "dateAssigned": "2026-03-03T17:31:00.000-06:00", "objectId": "HGNC:23631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030357", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150383339" }, "publicationId": "PMID:28642860" }, "phenotypeStatement": "Small cell lung carcinoma", "dateAssigned": "2021-08-31T23:04:06.000-05:00", "objectId": "HGNC:795" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640476581" }, "publicationId": "PMID:29311636" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2026-03-09T15:59:47.000-05:00", "objectId": "HGNC:234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007408", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340717" }, "publicationId": "PMID:32023240" }, "phenotypeStatement": "Tegumentary leishmaniasis susceptibility", "dateAssigned": "2021-08-31T07:36:29.000-05:00", "objectId": "HGNC:16830" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358749" }, "publicationId": "PMID:11425005" }, "phenotypeStatement": "Alzheimer disease", "dateAssigned": "2020-08-11T11:31:41.000-05:00", "objectId": "HGNC:6701" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150340747" }, "publicationId": "PMID:26358252" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2021-08-31T13:36:38.000-05:00", "objectId": "HGNC:16830" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032933", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:634938794" }, "publicationId": "PMID:16522461" }, "phenotypeStatement": "Airway hyperresponsiveness", "dateAssigned": "2026-03-03T15:31:42.000-06:00", "objectId": "HGNC:23631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030828", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:635417250" }, "publicationId": "PMID:19237393" }, "phenotypeStatement": "Wheezing", "dateAssigned": "2026-03-05T10:54:45.000-06:00", "objectId": "HGNC:20823" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:635174445" }, "publicationId": "PMID:19624525" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2026-03-03T16:16:22.000-06:00", "objectId": "HGNC:23631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901919" }, "publicationId": "PMID:21622477" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "2023-06-28T14:27:28.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901929" }, "publicationId": "PMID:23869418" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2023-06-28T14:48:26.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901929" }, "publicationId": "PMID:23869418" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2023-06-28T14:48:26.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901929" }, "publicationId": "PMID:23869418" }, "phenotypeStatement": "Diabetes mellitus", "dateAssigned": "2023-06-28T14:48:26.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901929" }, "publicationId": "PMID:23869418" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2023-06-28T14:48:26.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38599181" }, "publicationId": "PMID:29867955" }, "phenotypeStatement": "Respiratory distress", "dateAssigned": "2020-09-12T00:06:08.000-05:00", "objectId": "HGNC:8978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031413", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152993554" }, "publicationId": "PMID:28495916" }, "phenotypeStatement": "Short telomere length", "dateAssigned": "2022-06-09T09:39:03.000-05:00", "objectId": "HGNC:15888" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:35673321" }, "publicationId": "PMID:19113921" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2020-07-13T16:35:55.000-05:00", "objectId": "HGNC:1862" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38599181" }, "publicationId": "PMID:29867955" }, "phenotypeStatement": "Fever", "dateAssigned": "2020-09-12T00:06:07.000-05:00", "objectId": "HGNC:8978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38599181" }, "publicationId": "PMID:29867955" }, "phenotypeStatement": "Hypoxemia", "dateAssigned": "2020-09-12T00:06:08.000-05:00", "objectId": "HGNC:8978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002094", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:38599181" }, "publicationId": "PMID:29867955" }, "phenotypeStatement": "Dyspnea", "dateAssigned": "2020-09-12T00:06:08.000-05:00", "objectId": "HGNC:8978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530620" }, "publicationId": "PMID:24345911" }, "phenotypeStatement": "Esophageal carcinoma", "dateAssigned": "2022-01-25T08:33:00.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347638" }, "publicationId": "PMID:32859741" }, "phenotypeStatement": "Middle age onset", "dateAssigned": "2022-01-31T13:53:35.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347649" }, "publicationId": "PMID:28404093" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2022-01-31T14:09:02.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347640" }, "publicationId": "PMID:27612425" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2022-01-31T13:57:55.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152023636" }, "publicationId": "PMID:19428376" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-04-26T13:19:49.000-05:00", "objectId": "HGNC:4553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11086231" }, "publicationId": "PMID:26033426" }, "phenotypeStatement": "Diarrhea", "dateAssigned": "2022-01-21T13:12:26.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001888", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11086231" }, "publicationId": "PMID:26033426" }, "phenotypeStatement": "Decreased total lymphocyte count", "dateAssigned": "2022-01-21T13:12:26.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347172" }, "publicationId": "PMID:17952468" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-01-18T11:19:20.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347416" }, "publicationId": "PMID:19061777" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-01-20T09:49:19.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347422" }, "publicationId": "PMID:20003463" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-01-20T13:10:24.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347427" }, "publicationId": "PMID:15301704" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-20T14:22:57.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347597" }, "publicationId": "PMID:25354935" }, "phenotypeStatement": "Esophageal carcinoma", "dateAssigned": "2022-01-27T12:09:35.000-06:00", "objectId": "HGNC:11896" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031499", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152025217" }, "publicationId": "PMID:30962504" }, "phenotypeStatement": "Appendiceal mucinous neoplasm", "dateAssigned": "2022-04-29T10:43:49.000-05:00", "objectId": "HGNC:2681" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347583" }, "publicationId": "PMID:32063627" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-01-27T09:18:38.000-06:00", "objectId": "HGNC:12003" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347589" }, "publicationId": "PMID:21965272" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-27T10:01:28.000-06:00", "objectId": "HGNC:12003" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347649" }, "publicationId": "PMID:28404093" }, "phenotypeStatement": "Middle age onset", "dateAssigned": "2022-01-31T14:08:56.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152025199" }, "publicationId": "PMID:30342802" }, "phenotypeStatement": "Neoplasm of the liver", "dateAssigned": "2022-04-28T16:31:53.000-05:00", "objectId": "HGNC:2681" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100634", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152025199" }, "publicationId": "PMID:30342802" }, "phenotypeStatement": "Neuroendocrine neoplasm", "dateAssigned": "2022-04-28T16:31:53.000-05:00", "objectId": "HGNC:2681" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901909" }, "publicationId": "PMID:28750217" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2023-06-28T11:54:10.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T11:35:52.000-05:00", "objectId": "HGNC:12371" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097268" }, "publicationId": "PMID:24446315" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-20T05:35:52.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329902062" }, "publicationId": "PMID:32453474" }, "phenotypeStatement": "Nephropathy", "dateAssigned": "2023-06-29T16:09:32.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012547", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901760" }, "publicationId": "PMID:22355252" }, "phenotypeStatement": "Abnormal involuntary eye movements", "dateAssigned": "2023-06-30T15:55:12.000-05:00", "objectId": "HGNC:29021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001483", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901760" }, "publicationId": "PMID:22355252" }, "phenotypeStatement": "Eye poking", "dateAssigned": "2023-06-30T15:55:12.000-05:00", "objectId": "HGNC:29021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901760" }, "publicationId": "PMID:22355252" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2023-06-30T15:55:12.000-05:00", "objectId": "HGNC:29021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901926" }, "publicationId": "PMID:23659736" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2023-06-28T14:44:39.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573805" }, "publicationId": "PMID:21636554" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-12T06:48:11.000-06:00", "objectId": "HGNC:6848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13217411" }, "publicationId": "PMID:23027623" }, "phenotypeStatement": "Neoplasm of the rectum", "dateAssigned": "2022-01-12T07:09:50.000-06:00", "objectId": "HGNC:6848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010832", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151676716" }, "publicationId": "PMID:29384852" }, "phenotypeStatement": "Abnormality of pain sensation", "dateAssigned": "2022-04-13T11:14:37.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012114", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347856" }, "publicationId": "PMID:23528559" }, "phenotypeStatement": "Endometrial carcinoma", "dateAssigned": "2022-02-04T10:32:56.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003146", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11353457" }, "publicationId": "PMID:26671915" }, "phenotypeStatement": "Hypocholesterolemia", "dateAssigned": "2023-06-28T10:34:53.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11353457" }, "publicationId": "PMID:26671915" }, "phenotypeStatement": "Diabetes mellitus", "dateAssigned": "2023-06-28T10:34:53.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11251107" }, "publicationId": "PMID:26345972" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-19T12:47:18.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329902062" }, "publicationId": "PMID:32453474" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2023-06-29T16:23:12.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002092", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329902062" }, "publicationId": "PMID:32453474" }, "phenotypeStatement": "Pulmonary arterial hypertension", "dateAssigned": "2023-06-29T16:23:12.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100630", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573698" }, "publicationId": "PMID:24175791" }, "phenotypeStatement": "Neoplasia of the nasopharynx", "dateAssigned": "2022-01-10T11:42:09.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150539450" }, "publicationId": "PMID:33106877" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-02-01T12:56:08.000-06:00", "objectId": "HGNC:3595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T10:22:48.000-05:00", "objectId": "HGNC:9765" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347410" }, "publicationId": "PMID:24782167" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-19T12:03:41.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001882", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347428" }, "publicationId": "PMID:22982660" }, "phenotypeStatement": "Decreased total leukocyte count", "dateAssigned": "2022-01-20T14:52:45.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001875", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347428" }, "publicationId": "PMID:22982660" }, "phenotypeStatement": "Decreased total neutrophil count", "dateAssigned": "2022-01-20T14:52:45.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001873", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347428" }, "publicationId": "PMID:22982660" }, "phenotypeStatement": "Thrombocytopenia", "dateAssigned": "2022-01-20T14:52:45.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329845517" }, "publicationId": "PMID:32641001" }, "phenotypeStatement": "Pseudoexfoliation", "dateAssigned": "2023-05-24T13:10:40.000-05:00", "objectId": "HGNC:171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11056906" }, "publicationId": "PMID:24935603" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-01-17T12:53:55.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151232295" }, "publicationId": "PMID:25308691" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-17T12:14:51.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005227", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347835" }, "publicationId": "PMID:16537708" }, "phenotypeStatement": "Adenomatous colonic polyposis", "dateAssigned": "2022-02-02T14:02:02.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150530501" }, "publicationId": "PMID:25710005" }, "phenotypeStatement": "Esophageal neoplasm", "dateAssigned": "2022-01-24T12:54:35.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011227", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207860" }, "publicationId": "PMID:22325052" }, "phenotypeStatement": "Elevated circulating C-reactive protein concentration", "dateAssigned": "2021-11-10T10:58:11.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329902060" }, "publicationId": "PMID:15452033" }, "phenotypeStatement": "Abnormal systemic blood pressure", "dateAssigned": "2023-06-29T15:18:39.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151356738" }, "publicationId": "PMID:32619164" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-02-10T14:52:41.000-06:00", "objectId": "HGNC:6943" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665750" }, "publicationId": "PMID:22371331" }, "phenotypeStatement": "Neoplasm of the rectum", "dateAssigned": "2022-03-30T18:36:50.000-05:00", "objectId": "HGNC:4555" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329901919" }, "publicationId": "PMID:21622477" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2023-06-28T14:25:45.000-05:00", "objectId": "HGNC:5208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T11:56:25.000-05:00", "objectId": "HGNC:5331" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T12:22:11.000-05:00", "objectId": "HGNC:4285" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573820" }, "publicationId": "PMID:19908066" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-01-16T23:53:42.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T08:39:21.000-05:00", "objectId": "HGNC:25032" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100630", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573697" }, "publicationId": "PMID:27356695" }, "phenotypeStatement": "Neoplasia of the nasopharynx", "dateAssigned": "2022-01-10T09:44:19.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573706" }, "publicationId": "PMID:22549274" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-01-10T22:24:53.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151236316" }, "publicationId": "PMID:27323144" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-01-18T11:07:04.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T12:10:05.000-05:00", "objectId": "HGNC:12020" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347175" }, "publicationId": "PMID:19958624" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-18T12:47:31.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347407" }, "publicationId": "PMID:25584213" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-01-19T11:28:48.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151232296" }, "publicationId": "PMID:16652158" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-24T12:38:37.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031413", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152995257" }, "publicationId": "PMID:31762827" }, "phenotypeStatement": "Short telomere length", "dateAssigned": "2022-06-09T15:51:09.000-05:00", "objectId": "HGNC:15888" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665498" }, "publicationId": "PMID:28665452" }, "phenotypeStatement": "Abnormality of vitamin D metabolism", "dateAssigned": "2022-04-11T11:51:53.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347402" }, "publicationId": "PMID:19157633" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-19T07:53:37.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T12:18:32.000-05:00", "objectId": "HGNC:17950" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708729" }, "publicationId": "PMID:16510607" }, "phenotypeStatement": "Abnormal circulating ferritin concentration", "dateAssigned": "2022-04-15T20:40:58.000-05:00", "objectId": "HGNC:4553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347638" }, "publicationId": "PMID:32859741" }, "phenotypeStatement": "Abnormal vascular morphology", "dateAssigned": "2022-01-31T13:53:41.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152985527" }, "publicationId": "PMID:32218415" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2022-06-07T11:53:31.000-05:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T09:04:06.000-05:00", "objectId": "HGNC:8746" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T10:54:35.000-05:00", "objectId": "HGNC:32174" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347410" }, "publicationId": "PMID:24782167" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-19T12:05:17.000-06:00", "objectId": "HGNC:3437" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151356953" }, "publicationId": "PMID:27244218" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2022-02-21T12:37:03.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006749", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347580" }, "publicationId": "PMID:30420492" }, "phenotypeStatement": "Malignant gastrointestinal tract tumors", "dateAssigned": "2022-01-27T08:41:09.000-06:00", "objectId": "HGNC:12003" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006749", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347581" }, "publicationId": "PMID:21672615" }, "phenotypeStatement": "Malignant gastrointestinal tract tumors", "dateAssigned": "2022-01-27T08:49:10.000-06:00", "objectId": "HGNC:12003" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030357", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347582" }, "publicationId": "PMID:26168399" }, "phenotypeStatement": "Small cell lung carcinoma", "dateAssigned": "2022-01-27T08:55:14.000-06:00", "objectId": "HGNC:12003" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006749", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347588" }, "publicationId": "PMID:14732927" }, "phenotypeStatement": "Malignant gastrointestinal tract tumors", "dateAssigned": "2022-01-27T09:54:21.000-06:00", "objectId": "HGNC:12003" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003002", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347588" }, "publicationId": "PMID:14732927" }, "phenotypeStatement": "Breast carcinoma", "dateAssigned": "2022-01-27T09:54:21.000-06:00", "objectId": "HGNC:12003" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030079", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347580" }, "publicationId": "PMID:30420492" }, "phenotypeStatement": "Cervix cancer", "dateAssigned": "2022-01-27T08:41:09.000-06:00", "objectId": "HGNC:12003" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:42722613" }, "publicationId": "PMID:17407503" }, "phenotypeStatement": "Elevated circulating homovanillic acid concentration", "dateAssigned": "2021-03-05T10:46:14.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031886", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663671" }, "publicationId": "PMID:20717167" }, "phenotypeStatement": "Abnormal LDL cholesterol concentration", "dateAssigned": "2022-12-02T14:17:25.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031888", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152995255" }, "publicationId": "PMID:15361761" }, "phenotypeStatement": "Abnormal HDL cholesterol concentration", "dateAssigned": "2022-06-09T14:41:59.000-05:00", "objectId": "HGNC:10522" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152025254" }, "publicationId": "PMID:27978548" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-02T09:10:04.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152998959" }, "publicationId": "PMID:26199339" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-07-08T16:31:21.000-05:00", "objectId": "HGNC:37189" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665146" }, "publicationId": "PMID:23246699" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2022-03-11T14:07:14.000-06:00", "objectId": "HGNC:17294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T10:58:31.000-05:00", "objectId": "HGNC:10001" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031413", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152977765" }, "publicationId": "PMID:23959892" }, "phenotypeStatement": "Short telomere length", "dateAssigned": "2022-06-06T15:36:35.000-05:00", "objectId": "HGNC:15888" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T10:44:36.000-05:00", "objectId": "HGNC:5980" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T11:07:25.000-05:00", "objectId": "HGNC:26574" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030405", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152025205" }, "publicationId": "PMID:29212165" }, "phenotypeStatement": "Pancreatic endocrine tumor", "dateAssigned": "2022-04-28T16:55:32.000-05:00", "objectId": "HGNC:2681" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-13T11:34:40.000-05:00", "objectId": "HGNC:2648" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153297804" }, "publicationId": "PMID:32905523" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-07-27T11:16:46.000-05:00", "objectId": "HGNC:591" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031413", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152995257" }, "publicationId": "PMID:31762827" }, "phenotypeStatement": "Short telomere length", "dateAssigned": "2022-06-09T15:52:07.000-05:00", "objectId": "HGNC:270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207860" }, "publicationId": "PMID:22325052" }, "phenotypeStatement": "Bacteriuria", "dateAssigned": "2021-11-10T10:58:05.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002160", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:42722612" }, "publicationId": "PMID:11684547" }, "phenotypeStatement": "Hyperhomocystinemia", "dateAssigned": "2021-03-05T10:07:55.000-06:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:41410818" }, "publicationId": "PMID:24283933" }, "phenotypeStatement": "Viremia", "dateAssigned": "2021-02-16T11:31:39.000-06:00", "objectId": "HGNC:13523" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660346" }, "publicationId": "PMID:21747048" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2022-03-04T09:39:31.000-06:00", "objectId": "HGNC:1957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347689" }, "publicationId": "PMID:31085721" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-02-01T13:36:47.000-06:00", "objectId": "HGNC:3595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100630", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573708" }, "publicationId": "PMID:17630853" }, "phenotypeStatement": "Neoplasia of the nasopharynx", "dateAssigned": "2022-01-10T23:02:53.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150540339" }, "publicationId": "PMID:22580644" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-01-24T12:18:13.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347426" }, "publicationId": "PMID:17531525" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-01-20T13:53:54.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665500" }, "publicationId": "PMID:28362172" }, "phenotypeStatement": "Esophageal carcinoma", "dateAssigned": "2022-03-28T12:35:55.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031888", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152995255" }, "publicationId": "PMID:15361761" }, "phenotypeStatement": "Abnormal HDL cholesterol concentration", "dateAssigned": "2022-06-09T14:41:19.000-05:00", "objectId": "HGNC:18049" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347613" }, "publicationId": "PMID:28784141" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2022-01-28T14:49:27.000-06:00", "objectId": "HGNC:11896" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006749", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347587" }, "publicationId": "PMID:31090204" }, "phenotypeStatement": "Malignant gastrointestinal tract tumors", "dateAssigned": "2022-02-14T08:33:38.000-06:00", "objectId": "HGNC:12003" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153002581" }, "publicationId": "PMID:23144319" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-07-19T18:40:41.000-05:00", "objectId": "HGNC:7669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207860" }, "publicationId": "PMID:22325052" }, "phenotypeStatement": "Fever", "dateAssigned": "2021-11-10T11:49:30.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012288", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150520023" }, "publicationId": "PMID:17084840" }, "phenotypeStatement": "Neoplasm of head and neck", "dateAssigned": "2021-10-21T14:18:04.000-05:00", "objectId": "HGNC:3691" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152177496" }, "publicationId": "PMID:27354594" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-05-12T21:00:18.000-05:00", "objectId": "HGNC:24583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100649", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150520164" }, "publicationId": "PMID:20127014" }, "phenotypeStatement": "Neoplasm of the oral cavity", "dateAssigned": "2021-10-29T15:42:17.000-05:00", "objectId": "HGNC:3691" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030357", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429733" }, "publicationId": "PMID:31199602" }, "phenotypeStatement": "Small cell lung carcinoma", "dateAssigned": "2022-02-01T07:01:15.000-06:00", "objectId": "HGNC:3595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100649", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347687" }, "publicationId": "PMID:28435450" }, "phenotypeStatement": "Neoplasm of the oral cavity", "dateAssigned": "2022-02-01T12:40:04.000-06:00", "objectId": "HGNC:3595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031498", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150520039" }, "publicationId": "PMID:20844967" }, "phenotypeStatement": "Mucinous gastric carcinoma", "dateAssigned": "2021-10-22T14:26:58.000-05:00", "objectId": "HGNC:3691" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150520036" }, "publicationId": "PMID:28977903" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2021-10-22T11:53:57.000-05:00", "objectId": "HGNC:9811" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150520039" }, "publicationId": "PMID:20844967" }, "phenotypeStatement": "Neoplasm of the stomach", "dateAssigned": "2021-10-22T14:26:58.000-05:00", "objectId": "HGNC:3691" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660346" }, "publicationId": "PMID:21747048" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-03-04T09:40:22.000-06:00", "objectId": "HGNC:1957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708718" }, "publicationId": "PMID:31825158" }, "phenotypeStatement": "Short stature", "dateAssigned": "2022-04-15T14:01:49.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000494", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708718" }, "publicationId": "PMID:31825158" }, "phenotypeStatement": "Downslanted palpebral fissures", "dateAssigned": "2022-04-15T14:01:49.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708718" }, "publicationId": "PMID:31825158" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2022-04-15T14:01:49.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001010", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600618" }, "publicationId": "PMID:11030758" }, "phenotypeStatement": "Hypopigmentation of the skin", "dateAssigned": "2020-08-05T11:37:08.000-05:00", "objectId": "HGNC:6929" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601274" }, "publicationId": "PMID:9207799" }, "phenotypeStatement": "Obesity", "dateAssigned": "2020-08-05T13:02:22.000-05:00", "objectId": "HGNC:8743" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708718" }, "publicationId": "PMID:31825158" }, "phenotypeStatement": "Macrocephaly", "dateAssigned": "2022-04-15T14:01:49.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708718" }, "publicationId": "PMID:31825158" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2022-04-15T14:01:49.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708718" }, "publicationId": "PMID:31825158" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "2022-04-15T14:01:49.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708718" }, "publicationId": "PMID:31825158" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2022-04-15T14:01:49.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573715" }, "publicationId": "PMID:23042672" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2022-01-11T16:04:59.000-06:00", "objectId": "HGNC:6848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003584", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573717" }, "publicationId": "PMID:32753933" }, "phenotypeStatement": "Late onset", "dateAssigned": "2022-01-11T16:14:44.000-06:00", "objectId": "HGNC:6848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011039", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708718" }, "publicationId": "PMID:31825158" }, "phenotypeStatement": "Abnormal helix morphology", "dateAssigned": "2022-04-15T14:01:49.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708718" }, "publicationId": "PMID:31825158" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2022-04-15T14:01:49.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708718" }, "publicationId": "PMID:31825158" }, "phenotypeStatement": "High palate", "dateAssigned": "2022-04-15T14:01:49.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40400752" }, "publicationId": "PMID:25740255" }, "phenotypeStatement": "Hepatic fibrosis", "dateAssigned": "2020-11-04T14:22:11.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40400891" }, "publicationId": "PMID:28739427" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-11-05T13:29:22.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11538163" }, "publicationId": "PMID:26097609" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-18T06:11:22.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533013" }, "publicationId": "PMID:26990426" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2022-04-15T19:39:26.000-05:00", "objectId": "HGNC:4553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11533013" }, "publicationId": "PMID:26990426" }, "phenotypeStatement": "Hepatic fibrosis", "dateAssigned": "2022-04-15T19:39:26.000-05:00", "objectId": "HGNC:4553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030948", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40400752" }, "publicationId": "PMID:25740255" }, "phenotypeStatement": "Elevated gamma-glutamyltransferase level", "dateAssigned": "2020-11-04T14:33:44.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003573", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40400752" }, "publicationId": "PMID:25740255" }, "phenotypeStatement": "Increased total bilirubin", "dateAssigned": "2020-11-04T14:33:44.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005537", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40400752" }, "publicationId": "PMID:25740255" }, "phenotypeStatement": "Decreased mean platelet volume", "dateAssigned": "2020-11-04T14:33:44.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40400752" }, "publicationId": "PMID:25740255" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2020-11-04T14:33:44.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40400752" }, "publicationId": "PMID:25740255" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2020-11-04T14:33:44.000-06:00", "objectId": "HGNC:44480" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347645" }, "publicationId": "PMID:25224212" }, "phenotypeStatement": "Abnormal endometrium morphology", "dateAssigned": "2022-01-31T14:02:51.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151232297" }, "publicationId": "PMID:22152690" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-01-17T12:57:36.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708729" }, "publicationId": "PMID:16510607" }, "phenotypeStatement": "Hepatocellular carcinoma", "dateAssigned": "2022-04-15T20:34:01.000-05:00", "objectId": "HGNC:4553" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347611" }, "publicationId": "PMID:22843550" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-01-28T14:23:44.000-06:00", "objectId": "HGNC:11896" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573806" }, "publicationId": "PMID:25227862" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-01-13T06:35:02.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665338" }, "publicationId": "PMID:31740231" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2022-03-22T09:25:02.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030357", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665340" }, "publicationId": "PMID:31264381" }, "phenotypeStatement": "Small cell lung carcinoma", "dateAssigned": "2022-03-22T09:30:16.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012184", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580227" }, "publicationId": "PMID:7749820" }, "phenotypeStatement": "Increased HDL cholesterol concentration", "dateAssigned": "2020-08-04T17:13:35.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007378", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361217" }, "publicationId": "PMID:32236609" }, "phenotypeStatement": "Neoplasm of the gastrointestinal tract", "dateAssigned": "2022-03-01T12:33:34.000-06:00", "objectId": "HGNC:18505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100723", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152995424" }, "publicationId": "PMID:29054076" }, "phenotypeStatement": "Gastrointestinal stroma tumor", "dateAssigned": "2022-06-21T11:16:47.000-05:00", "objectId": "HGNC:10961" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030078", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150429981" }, "publicationId": "PMID:19296538" }, "phenotypeStatement": "Lung adenocarcinoma", "dateAssigned": "2022-05-20T18:08:16.000-05:00", "objectId": "HGNC:3691" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11075880" }, "publicationId": "PMID:26598072" }, "phenotypeStatement": "Esophageal carcinoma", "dateAssigned": "2022-01-28T15:32:13.000-06:00", "objectId": "HGNC:11896" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152995405" }, "publicationId": "PMID:33470690" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-06-17T12:14:17.000-05:00", "objectId": "HGNC:8827" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031798", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580226" }, "publicationId": "PMID:12006394" }, "phenotypeStatement": "Elevated circulating apolipoprotein B concentration", "dateAssigned": "2020-08-04T13:49:05.000-05:00", "objectId": "HGNC:9232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152995362" }, "publicationId": "PMID:27617218" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-06-15T21:44:37.000-05:00", "objectId": "HGNC:20754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152995405" }, "publicationId": "PMID:33470690" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-06-17T11:33:14.000-05:00", "objectId": "HGNC:14897" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152995405" }, "publicationId": "PMID:33470690" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-06-17T11:27:16.000-05:00", "objectId": "HGNC:11386" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031691", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:30296684" }, "publicationId": "PMID:32348495" }, "phenotypeStatement": "Severe viral infection", "dateAssigned": "2020-06-23T11:24:02.000-05:00", "objectId": "HGNC:5414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39939060" }, "publicationId": "PMID:24797508" }, "phenotypeStatement": "Headache", "dateAssigned": "2020-10-25T23:44:16.000-05:00", "objectId": "HGNC:1641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005059", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39939060" }, "publicationId": "PMID:24797508" }, "phenotypeStatement": "Arthralgia/arthritis", "dateAssigned": "2020-10-25T23:44:16.000-05:00", "objectId": "HGNC:1641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152995443" }, "publicationId": "PMID:24782339" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-06-22T15:50:42.000-05:00", "objectId": "HGNC:11026" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708714" }, "publicationId": "PMID:33504116" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-04-18T13:14:43.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:152995362" }, "publicationId": "PMID:27617218" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-06-15T21:43:33.000-05:00", "objectId": "HGNC:12336" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005202", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40400710" }, "publicationId": "PMID:28746216" }, "phenotypeStatement": "Helicobacter pylori infection", "dateAssigned": "2020-11-02T16:35:33.000-06:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361163" }, "publicationId": "PMID:32653938" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-02-27T18:02:31.000-06:00", "objectId": "HGNC:777" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361161" }, "publicationId": "PMID:29245274" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-02-25T19:37:06.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001875", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151232292" }, "publicationId": "PMID:22343920" }, "phenotypeStatement": "Decreased total neutrophil count", "dateAssigned": "2022-01-14T11:08:38.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347450" }, "publicationId": "PMID:25038912" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-01-25T13:23:55.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030078", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361163" }, "publicationId": "PMID:32653938" }, "phenotypeStatement": "Lung adenocarcinoma", "dateAssigned": "2022-02-27T18:04:06.000-06:00", "objectId": "HGNC:777" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347445" }, "publicationId": "PMID:33363385" }, "phenotypeStatement": "Esophageal neoplasm", "dateAssigned": "2022-01-25T09:45:34.000-06:00", "objectId": "HGNC:17575" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150520201" }, "publicationId": "PMID:24609754" }, "phenotypeStatement": "Abnormal blood glucose concentration", "dateAssigned": "2021-11-05T13:18:33.000-05:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665501" }, "publicationId": "PMID:24562971" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-03-28T12:37:29.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708739" }, "publicationId": "PMID:29726119" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-04-18T13:10:29.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708739" }, "publicationId": "PMID:29726119" }, "phenotypeStatement": "Abnormality of vitamin D metabolism", "dateAssigned": "2022-04-18T13:10:33.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361155" }, "publicationId": "PMID:29416783" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-02-25T11:34:25.000-06:00", "objectId": "HGNC:1957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012787", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207860" }, "publicationId": "PMID:22325052" }, "phenotypeStatement": "Recurrent pyelonephritis", "dateAssigned": "2021-11-10T10:57:58.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665339" }, "publicationId": "PMID:28821819" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-03-22T09:27:40.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100649", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665337" }, "publicationId": "PMID:22612324" }, "phenotypeStatement": "Neoplasm of the oral cavity", "dateAssigned": "2022-03-22T09:23:40.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012432", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36947383" }, "publicationId": "PMID:14592408" }, "phenotypeStatement": "Chronic fatigue", "dateAssigned": "2020-07-30T18:37:56.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003565", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:7207860" }, "publicationId": "PMID:22325052" }, "phenotypeStatement": "Elevated erythrocyte sedimentation rate", "dateAssigned": "2021-11-10T10:58:18.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:408346758" }, "publicationId": "PMID:18240651" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-10-31T08:19:13.000-05:00", "objectId": "HGNC:2690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:408345238" }, "publicationId": "PMID:18849153" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-10-29T14:01:36.000-05:00", "objectId": "HGNC:4037" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030499", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:408395147" }, "publicationId": "PMID:32407518" }, "phenotypeStatement": "Macular drusen", "dateAssigned": "2024-11-12T14:34:44.000-06:00", "objectId": "HGNC:1318" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:408346759" }, "publicationId": "PMID:24818357" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-10-31T09:39:23.000-05:00", "objectId": "HGNC:2690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032436", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150520201" }, "publicationId": "PMID:24609754" }, "phenotypeStatement": "Abnormal circulating C-reactive protein concentration", "dateAssigned": "2021-11-05T13:18:28.000-05:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402528370" }, "publicationId": "PMID:22954510" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-03-13T12:01:52.000-05:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:4000112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402528370" }, "publicationId": "PMID:22954510" }, "phenotypeStatement": "Medication history", "dateAssigned": "2024-03-13T12:01:52.000-05:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402528370" }, "publicationId": "PMID:22954510" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-13T12:01:52.000-05:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0430133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402528880" }, "publicationId": "PMID:22716474" }, "phenotypeStatement": "Tobacco use history", "dateAssigned": "2024-03-14T15:22:33.000-05:00", "objectId": "HGNC:8010" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033519", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402528887" }, "publicationId": "PMID:14569258" }, "phenotypeStatement": "Addictive methamphetamine use", "dateAssigned": "2024-03-14T18:23:04.000-05:00", "objectId": "HGNC:4087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11079504" }, "publicationId": "PMID:26233486" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-11T14:40:38.000-05:00", "objectId": "HGNC:8154" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031798", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1642625" }, "publicationId": "PMID:16776623" }, "phenotypeStatement": "Elevated circulating apolipoprotein B concentration", "dateAssigned": "2020-08-04T16:34:46.000-05:00", "objectId": "HGNC:9205" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665789" }, "publicationId": "PMID:25544771" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-04-04T14:10:12.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5684911" }, "publicationId": "PMID:19844206" }, "phenotypeStatement": "Depression", "dateAssigned": "2020-07-30T19:23:17.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100753", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358753" }, "publicationId": "PMID:14732589" }, "phenotypeStatement": "Schizophrenia", "dateAssigned": "2020-08-05T12:32:46.000-05:00", "objectId": "HGNC:7884" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36947381" }, "publicationId": "PMID:10484962" }, "phenotypeStatement": "Depression", "dateAssigned": "2020-07-30T18:43:37.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36947877" }, "publicationId": "PMID:22134442" }, "phenotypeStatement": "Depression", "dateAssigned": "2020-08-05T12:00:48.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580177" }, "publicationId": "PMID:11689216" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2020-08-05T12:57:58.000-05:00", "objectId": "HGNC:7955" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580177" }, "publicationId": "PMID:11689216" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2020-08-05T12:57:58.000-05:00", "objectId": "HGNC:7955" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2301876" }, "publicationId": "PMID:15173029" }, "phenotypeStatement": "Impaired glucose tolerance", "dateAssigned": "2020-08-06T14:54:54.000-05:00", "objectId": "HGNC:4195" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033626", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580227" }, "publicationId": "PMID:7749820" }, "phenotypeStatement": "Increased non-HDL cholesterol concentration", "dateAssigned": "2021-02-16T17:10:54.000-06:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573807" }, "publicationId": "PMID:23859041" }, "phenotypeStatement": "Neoplasm of the rectum", "dateAssigned": "2022-04-04T14:17:06.000-05:00", "objectId": "HGNC:6876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1641832" }, "publicationId": "PMID:14691196" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2020-08-03T18:02:58.000-05:00", "objectId": "HGNC:4464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1641832" }, "publicationId": "PMID:14691196" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2020-08-03T18:02:58.000-05:00", "objectId": "HGNC:4464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580204" }, "publicationId": "PMID:12621166" }, "phenotypeStatement": "Hypoinsulinemia", "dateAssigned": "2020-08-05T13:22:36.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031820", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580204" }, "publicationId": "PMID:12621166" }, "phenotypeStatement": "Decreased waist to hip ratio", "dateAssigned": "2020-08-05T13:22:36.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599541" }, "publicationId": "PMID:12496757" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2020-08-03T16:12:45.000-05:00", "objectId": "HGNC:19440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580484" }, "publicationId": "PMID:15969253" }, "phenotypeStatement": "Increased carotid artery intimal medial thickness", "dateAssigned": "2020-08-05T09:09:03.000-05:00", "objectId": "HGNC:6018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36947871" }, "publicationId": "PMID:24679990" }, "phenotypeStatement": "Depression", "dateAssigned": "2020-08-05T10:13:09.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625179" }, "publicationId": "PMID:17192297" }, "phenotypeStatement": "Hypoinsulinemia", "dateAssigned": "2020-08-05T11:59:44.000-05:00", "objectId": "HGNC:6931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003581", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:6484692" }, "publicationId": "PMID:21873553" }, "phenotypeStatement": "Adult onset", "dateAssigned": "2022-07-26T11:35:21.000-05:00", "objectId": "HGNC:29605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000492", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150520200" }, "publicationId": "PMID:20015396" }, "phenotypeStatement": "Abnormal eyelid morphology", "dateAssigned": "2021-11-05T13:12:46.000-05:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003074", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625179" }, "publicationId": "PMID:17192297" }, "phenotypeStatement": "Hyperglycemia", "dateAssigned": "2020-08-05T11:59:44.000-05:00", "objectId": "HGNC:6931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031798", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580227" }, "publicationId": "PMID:7749820" }, "phenotypeStatement": "Elevated circulating apolipoprotein B concentration", "dateAssigned": "2020-08-04T17:02:32.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580227" }, "publicationId": "PMID:7749820" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2020-08-04T17:02:32.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358747" }, "publicationId": "PMID:9635959" }, "phenotypeStatement": "Alzheimer disease", "dateAssigned": "2020-08-05T11:09:25.000-05:00", "objectId": "HGNC:6692" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1580226" }, "publicationId": "PMID:12006394" }, "phenotypeStatement": "Elevated circulating apolipoprotein C-III concentration", "dateAssigned": "2021-02-16T17:19:04.000-06:00", "objectId": "HGNC:9232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39938989" }, "publicationId": "PMID:20217198" }, "phenotypeStatement": "Viremia", "dateAssigned": "2021-02-16T09:47:44.000-06:00", "objectId": "HGNC:13523" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003236", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358626" }, "publicationId": "PMID:14652796" }, "phenotypeStatement": "Elevated circulating creatine kinase concentration", "dateAssigned": "2020-08-05T14:54:29.000-05:00", "objectId": "HGNC:17997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001371", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358626" }, "publicationId": "PMID:14652796" }, "phenotypeStatement": "Flexion contracture", "dateAssigned": "2020-08-05T14:54:29.000-05:00", "objectId": "HGNC:17997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358626" }, "publicationId": "PMID:14652796" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2020-08-05T14:54:29.000-05:00", "objectId": "HGNC:17997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002350", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358626" }, "publicationId": "PMID:14652796" }, "phenotypeStatement": "Cerebellar cyst", "dateAssigned": "2020-08-05T14:54:29.000-05:00", "objectId": "HGNC:17997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006817", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358626" }, "publicationId": "PMID:14652796" }, "phenotypeStatement": "Aplasia/Hypoplasia of the cerebellar vermis", "dateAssigned": "2020-08-05T14:54:29.000-05:00", "objectId": "HGNC:17997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601218" }, "publicationId": "PMID:15601967" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2020-08-05T15:32:30.000-05:00", "objectId": "HGNC:3801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007018", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36947879" }, "publicationId": "PMID:27430630" }, "phenotypeStatement": "Attention deficit hyperactivity disorder", "dateAssigned": "2020-08-05T12:21:15.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001288", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5508407" }, "publicationId": "PMID:21280089" }, "phenotypeStatement": "Gait disturbance", "dateAssigned": "2020-08-05T12:12:08.000-05:00", "objectId": "HGNC:18618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36947396" }, "publicationId": "PMID:11236836" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2020-08-04T18:51:53.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601218" }, "publicationId": "PMID:15601967" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2020-08-05T15:32:03.000-05:00", "objectId": "HGNC:3801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600309" }, "publicationId": "PMID:11917274" }, "phenotypeStatement": "Cataract", "dateAssigned": "2020-08-05T10:45:05.000-05:00", "objectId": "HGNC:6610" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031589", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36947880" }, "publicationId": "PMID:28743254" }, "phenotypeStatement": "Suicidal ideation", "dateAssigned": "2020-08-05T12:29:11.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599405" }, "publicationId": "PMID:12652298" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2020-08-03T17:40:35.000-05:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599405" }, "publicationId": "PMID:12652298" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2020-08-03T17:40:35.000-05:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032521", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599405" }, "publicationId": "PMID:12652298" }, "phenotypeStatement": "Self hugging", "dateAssigned": "2020-08-03T17:40:35.000-05:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032509", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599405" }, "publicationId": "PMID:12652298" }, "phenotypeStatement": "Onychotillomania", "dateAssigned": "2020-08-03T17:40:35.000-05:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1599405" }, "publicationId": "PMID:12652298" }, "phenotypeStatement": "Polyembolokoilamania", "dateAssigned": "2020-08-03T17:40:35.000-05:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040299", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625179" }, "publicationId": "PMID:17192297" }, "phenotypeStatement": "Decreased circulating free fatty acid level", "dateAssigned": "2020-08-05T11:56:31.000-05:00", "objectId": "HGNC:6931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100851", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1358728" }, "publicationId": "PMID:12216017" }, "phenotypeStatement": "Abnormal emotional state", "dateAssigned": "2020-08-05T12:24:09.000-05:00", "objectId": "HGNC:11957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:36947869" }, "publicationId": "PMID:20664233" }, "phenotypeStatement": "Depression", "dateAssigned": "2020-08-05T09:56:10.000-05:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031793", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601429" }, "publicationId": "PMID:15812563" }, "phenotypeStatement": "Increased serum leptin", "dateAssigned": "2020-08-05T13:10:39.000-05:00", "objectId": "HGNC:9201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601429" }, "publicationId": "PMID:15812563" }, "phenotypeStatement": "Increased waist to hip ratio", "dateAssigned": "2020-08-05T13:10:39.000-05:00", "objectId": "HGNC:9201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1601429" }, "publicationId": "PMID:15812563" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2020-08-05T13:10:39.000-05:00", "objectId": "HGNC:9201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000842", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1625179" }, "publicationId": "PMID:17192297" }, "phenotypeStatement": "Hyperinsulinemia", "dateAssigned": "2020-08-05T11:57:20.000-05:00", "objectId": "HGNC:6931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151356758" }, "publicationId": "PMID:27264345" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-02-15T14:41:36.000-06:00", "objectId": "HGNC:6943" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347631" }, "publicationId": "PMID:24786325" }, "phenotypeStatement": "Abnormal mean corpuscular volume", "dateAssigned": "2022-01-31T13:40:41.000-06:00", "objectId": "HGNC:13176" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012114", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347648" }, "publicationId": "PMID:29505428" }, "phenotypeStatement": "Endometrial carcinoma", "dateAssigned": "2022-01-31T14:05:31.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347651" }, "publicationId": "PMID:33125191" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2022-01-31T14:12:25.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002814", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663562" }, "publicationId": "PMID:15854058" }, "phenotypeStatement": "Abnormality of the lower limb", "dateAssigned": "2022-11-29T12:58:07.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030078", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665791" }, "publicationId": "PMID:22797725" }, "phenotypeStatement": "Lung adenocarcinoma", "dateAssigned": "2022-04-04T14:13:43.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573807" }, "publicationId": "PMID:23859041" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2022-04-04T14:15:39.000-05:00", "objectId": "HGNC:6876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030359", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665791" }, "publicationId": "PMID:22797725" }, "phenotypeStatement": "Squamous cell lung carcinoma", "dateAssigned": "2022-04-04T14:13:48.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151356951" }, "publicationId": "PMID:33021522" }, "phenotypeStatement": "Abnormal cell morphology", "dateAssigned": "2022-02-21T12:31:38.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11567235" }, "publicationId": "PMID:17855454" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-02-21T12:38:43.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361155" }, "publicationId": "PMID:29416783" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-02-25T11:28:31.000-06:00", "objectId": "HGNC:1964" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025379", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153297780" }, "publicationId": "PMID:21829393" }, "phenotypeStatement": "Anti-thyroid peroxidase antibody positivity", "dateAssigned": "2022-07-26T11:37:50.000-05:00", "objectId": "HGNC:29605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573803" }, "publicationId": "PMID:27686263" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-01-12T06:36:47.000-06:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40400891" }, "publicationId": "PMID:28739427" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-11-05T13:12:35.000-06:00", "objectId": "HGNC:18365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11057080" }, "publicationId": "PMID:25860955" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2021-10-22T16:43:25.000-05:00", "objectId": "HGNC:3691" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006562", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39939007" }, "publicationId": "PMID:27348632" }, "phenotypeStatement": "Viral hepatitis", "dateAssigned": "2020-10-20T00:44:05.000-05:00", "objectId": "HGNC:1641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39939007" }, "publicationId": "PMID:27348632" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2020-10-20T00:44:05.000-05:00", "objectId": "HGNC:1641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031481", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:40400724" }, "publicationId": "PMID:14765837" }, "phenotypeStatement": "Abnormal mitral valve physiology", "dateAssigned": "2020-11-03T17:04:58.000-06:00", "objectId": "HGNC:2707" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573717" }, "publicationId": "PMID:32753933" }, "phenotypeStatement": "Esophageal carcinoma", "dateAssigned": "2022-01-11T16:13:51.000-06:00", "objectId": "HGNC:6848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011893", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150520201" }, "publicationId": "PMID:24609754" }, "phenotypeStatement": "Abnormal leukocyte count", "dateAssigned": "2021-11-05T13:18:22.000-05:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150520191" }, "publicationId": "PMID:25967969" }, "phenotypeStatement": "Esophageal carcinoma", "dateAssigned": "2021-11-04T12:39:33.000-05:00", "objectId": "HGNC:9682" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150520201" }, "publicationId": "PMID:24609754" }, "phenotypeStatement": "Fever", "dateAssigned": "2021-11-05T13:18:15.000-05:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660351" }, "publicationId": "PMID:18449888" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-03-04T15:13:26.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030357", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665791" }, "publicationId": "PMID:22797725" }, "phenotypeStatement": "Small cell lung carcinoma", "dateAssigned": "2022-04-04T14:13:38.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663661" }, "publicationId": "PMID:7795583" }, "phenotypeStatement": "Midface retrusion", "dateAssigned": "2022-11-30T17:10:55.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640480049" }, "publicationId": "PMID:19996341" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2026-03-26T13:11:11.000-05:00", "objectId": "HGNC:4187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011326", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663661" }, "publicationId": "PMID:7795583" }, "phenotypeStatement": "Anterior plagiocephaly", "dateAssigned": "2022-11-30T17:10:55.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000262", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663661" }, "publicationId": "PMID:7795583" }, "phenotypeStatement": "Turricephaly", "dateAssigned": "2022-11-30T17:10:55.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663661" }, "publicationId": "PMID:7795583" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2022-11-30T17:10:55.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011304", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663661" }, "publicationId": "PMID:7795583" }, "phenotypeStatement": "Broad thumb", "dateAssigned": "2022-11-30T17:10:55.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010055", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663661" }, "publicationId": "PMID:7795583" }, "phenotypeStatement": "Broad hallux", "dateAssigned": "2022-11-30T17:10:55.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640478535" }, "publicationId": "PMID:24007655" }, "phenotypeStatement": "Reduced FEV1/FVC ratio", "dateAssigned": "2026-03-23T16:23:46.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640478535" }, "publicationId": "PMID:24007655" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2026-03-23T16:23:46.000-05:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640478530" }, "publicationId": "PMID:21952719" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2026-03-20T11:01:46.000-05:00", "objectId": "HGNC:25257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640478530" }, "publicationId": "PMID:21952719" }, "phenotypeStatement": "Increased body weight", "dateAssigned": "2026-03-20T11:01:46.000-05:00", "objectId": "HGNC:25257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001638", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:39939013" }, "publicationId": "PMID:22537745" }, "phenotypeStatement": "Cardiomyopathy", "dateAssigned": "2021-10-21T10:36:24.000-05:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640478535" }, "publicationId": "PMID:24007655" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2026-03-23T16:22:49.000-05:00", "objectId": "HGNC:4187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640478535" }, "publicationId": "PMID:24007655" }, "phenotypeStatement": "Reduced FEV1/FVC ratio", "dateAssigned": "2026-03-23T16:22:49.000-05:00", "objectId": "HGNC:4187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640478535" }, "publicationId": "PMID:24007655" }, "phenotypeStatement": "Reduced forced expiratory volume in one second", "dateAssigned": "2026-03-23T16:22:49.000-05:00", "objectId": "HGNC:4187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640478535" }, "publicationId": "PMID:24007655" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2026-03-23T16:22:49.000-05:00", "objectId": "HGNC:4187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640480043" }, "publicationId": "PMID:20562129" }, "phenotypeStatement": "Reduced FEV1/FVC ratio", "dateAssigned": "2026-03-25T14:31:04.000-05:00", "objectId": "HGNC:4187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009593", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708709" }, "publicationId": "PMID:25480913" }, "phenotypeStatement": "Peripheral schwannoma", "dateAssigned": "2022-04-14T15:56:12.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0045051", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:640480042" }, "publicationId": "PMID:24735339" }, "phenotypeStatement": "Decreased DLCO", "dateAssigned": "2026-03-25T13:58:54.000-05:00", "objectId": "HGNC:4187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009590", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151708709" }, "publicationId": "PMID:25480913" }, "phenotypeStatement": "Unilateral vestibular schwannoma", "dateAssigned": "2022-04-14T15:56:12.000-05:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573716" }, "publicationId": "PMID:31686841" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2022-01-11T16:06:21.000-06:00", "objectId": "HGNC:6848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573718" }, "publicationId": "PMID:24759887" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2022-01-11T16:16:41.000-06:00", "objectId": "HGNC:6848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150573807" }, "publicationId": "PMID:23859041" }, "phenotypeStatement": "Neoplasm of the rectum", "dateAssigned": "2022-01-12T07:03:50.000-06:00", "objectId": "HGNC:6848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150523788" }, "publicationId": "PMID:24076593" }, "phenotypeStatement": "Lymphadenopathy", "dateAssigned": "2021-11-22T12:56:40.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853746" }, "publicationId": "PMID:18635682" }, "phenotypeStatement": "Abdominal aortic aneurysm", "dateAssigned": "2023-08-29T11:15:33.000-05:00", "objectId": "HGNC:9204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031888", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:407424615" }, "publicationId": "PMID:15890890" }, "phenotypeStatement": "Abnormal HDL cholesterol concentration", "dateAssigned": "2024-08-05T12:05:26.000-05:00", "objectId": "HGNC:644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002538", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901269" }, "publicationId": "PMID:11130769" }, "phenotypeStatement": "Abnormal cerebral cortex morphology", "dateAssigned": "2023-12-07T13:28:01.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011023", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901271" }, "publicationId": "PMID:15182267" }, "phenotypeStatement": "Abnormal circulating prostaglandin circulation", "dateAssigned": "2023-12-07T13:54:16.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463937" }, "publicationId": "PMID:33953123" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2024-03-06T09:10:04.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794454" }, "publicationId": "PMID:20458436" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-08-29T13:37:03.000-05:00", "objectId": "HGNC:1550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150523788" }, "publicationId": "PMID:24076593" }, "phenotypeStatement": "Malaise", "dateAssigned": "2021-11-22T12:56:28.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976498" }, "publicationId": "PMID:24845178" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2024-02-28T12:23:48.000-06:00", "objectId": "HGNC:3721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463943" }, "publicationId": "PMID:37660978" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2024-03-06T13:23:54.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033514", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940147" }, "publicationId": "PMID:21934638" }, "phenotypeStatement": "Addictive amphetamine use", "dateAssigned": "2024-01-24T16:51:24.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031700", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150523789" }, "publicationId": "PMID:25821028" }, "phenotypeStatement": "Invasive parasitic infection", "dateAssigned": "2021-11-22T12:58:26.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11529413" }, "publicationId": "PMID:27028764" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-09-23T12:03:37.000-05:00", "objectId": "HGNC:6847" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150523785" }, "publicationId": "PMID:22897124" }, "phenotypeStatement": "Hypoxemia", "dateAssigned": "2021-11-22T12:48:59.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020100", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150523787" }, "publicationId": "PMID:17709521" }, "phenotypeStatement": "Unusual fungal infection", "dateAssigned": "2021-11-22T12:53:06.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150523788" }, "publicationId": "PMID:24076593" }, "phenotypeStatement": "Night sweats", "dateAssigned": "2021-11-22T12:56:12.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001824", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150523788" }, "publicationId": "PMID:24076593" }, "phenotypeStatement": "Weight loss", "dateAssigned": "2021-11-22T12:56:23.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004944", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853736" }, "publicationId": "PMID:22961961" }, "phenotypeStatement": "Dilatation of the cerebral artery", "dateAssigned": "2023-07-12T16:39:49.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959296" }, "publicationId": "PMID:21936764" }, "phenotypeStatement": "Hazardous alcohol use", "dateAssigned": "2024-01-18T12:50:51.000-06:00", "objectId": "HGNC:21027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959383" }, "publicationId": "PMID:17070428" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2024-01-23T16:48:33.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004944", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853325" }, "publicationId": "PMID:29191544" }, "phenotypeStatement": "Dilatation of the cerebral artery", "dateAssigned": "2023-07-12T16:39:49.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329337380" }, "publicationId": "PMID:27923400" }, "phenotypeStatement": "Atrial fibrillation", "dateAssigned": "2023-05-02T11:26:45.000-05:00", "objectId": "HGNC:4620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463939" }, "publicationId": "PMID:31689297" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2024-03-06T12:12:03.000-06:00", "objectId": "HGNC:7956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033519", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463941" }, "publicationId": "PMID:19566775" }, "phenotypeStatement": "Addictive methamphetamine use", "dateAssigned": "2024-03-06T13:00:27.000-06:00", "objectId": "HGNC:7956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463943" }, "publicationId": "PMID:37660978" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2024-03-06T13:19:05.000-06:00", "objectId": "HGNC:8156" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:408345249" }, "publicationId": "PMID:14675807" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-10-29T17:21:09.000-05:00", "objectId": "HGNC:4037" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401950497" }, "publicationId": "PMID:11204347" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2024-01-29T11:16:25.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008760", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401950497" }, "publicationId": "PMID:11204347" }, "phenotypeStatement": "Violent behavior", "dateAssigned": "2024-01-29T11:16:25.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200341", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959592" }, "publicationId": "PMID:30790675" }, "phenotypeStatement": "Addictive cannabis use", "dateAssigned": "2024-01-26T09:41:07.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402528883" }, "publicationId": "PMID:21676558" }, "phenotypeStatement": "Addictive substance use", "dateAssigned": "2024-03-14T16:45:44.000-05:00", "objectId": "HGNC:8010" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031888", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401842365" }, "publicationId": "PMID:21903943" }, "phenotypeStatement": "Abnormal HDL cholesterol concentration", "dateAssigned": "2023-10-16T14:09:58.000-05:00", "objectId": "HGNC:7966" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463962" }, "publicationId": "PMID:24126707" }, "phenotypeStatement": "Positive urine opioid test", "dateAssigned": "2024-03-08T15:13:45.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463962" }, "publicationId": "PMID:24126707" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-08T15:13:45.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11534843" }, "publicationId": "PMID:26345603" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2024-01-25T18:13:25.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463962" }, "publicationId": "PMID:24126707" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2024-03-08T15:13:45.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243065149" }, "publicationId": "PMID:23076529" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2023-04-12T14:07:54.000-05:00", "objectId": "HGNC:4214" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329337363" }, "publicationId": "PMID:32727600" }, "phenotypeStatement": "Prolonged QRS complex", "dateAssigned": "2023-04-28T12:06:45.000-05:00", "objectId": "HGNC:171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031546", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329337363" }, "publicationId": "PMID:32727600" }, "phenotypeStatement": "Cardiac conduction abnormality", "dateAssigned": "2023-04-28T12:06:45.000-05:00", "objectId": "HGNC:171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001629", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329337362" }, "publicationId": "PMID:28346832" }, "phenotypeStatement": "Ventricular septal defect", "dateAssigned": "2023-04-28T12:48:44.000-05:00", "objectId": "HGNC:11632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001626", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329337364" }, "publicationId": "PMID:26909569" }, "phenotypeStatement": "Abnormality of the cardiovascular system", "dateAssigned": "2023-04-28T15:09:15.000-05:00", "objectId": "HGNC:11632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959302" }, "publicationId": "PMID:18704099" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2024-01-18T13:45:05.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009600", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Thumb contracture", "dateAssigned": "2022-11-18T12:20:05.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001762", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Talipes equinovarus", "dateAssigned": "2022-11-18T12:20:05.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200329", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940151" }, "publicationId": "PMID:32889058" }, "phenotypeStatement": "Problematic alcohol consumption", "dateAssigned": "2024-01-12T10:35:44.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000718", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:596948397" }, "publicationId": "PMID:27021288" }, "phenotypeStatement": "Aggressive behavior", "dateAssigned": "2025-01-07T15:18:36.000-06:00", "objectId": "HGNC:17941" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020172", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155230814" }, "publicationId": "PMID:27299748" }, "phenotypeStatement": "Adverse drug response", "dateAssigned": "2022-09-21T11:19:44.000-05:00", "objectId": "HGNC:9801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033755", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243065272" }, "publicationId": "PMID:25497880" }, "phenotypeStatement": "Increased left ventricular end-diastolic volume", "dateAssigned": "2023-04-17T15:29:03.000-05:00", "objectId": "HGNC:3036" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243065272" }, "publicationId": "PMID:25497880" }, "phenotypeStatement": "Mildly reduced left ventricular ejection fraction", "dateAssigned": "2023-04-17T15:29:03.000-05:00", "objectId": "HGNC:3036" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010872", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243065272" }, "publicationId": "PMID:25497880" }, "phenotypeStatement": "T-wave inversion", "dateAssigned": "2023-04-17T15:29:03.000-05:00", "objectId": "HGNC:3036" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004308", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243065272" }, "publicationId": "PMID:25497880" }, "phenotypeStatement": "Ventricular arrhythmia", "dateAssigned": "2023-04-17T15:29:03.000-05:00", "objectId": "HGNC:3036" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959400" }, "publicationId": "PMID:28108096" }, "phenotypeStatement": "Arterial stenosis", "dateAssigned": "2024-01-24T12:09:12.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030852", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401938619" }, "publicationId": "PMID:28698188" }, "phenotypeStatement": "High pulse pressure", "dateAssigned": "2023-12-14T09:14:23.000-06:00", "objectId": "HGNC:17294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976443" }, "publicationId": "PMID:31907389" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2024-02-23T10:32:06.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976443" }, "publicationId": "PMID:31907389" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2024-02-23T10:32:06.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040182", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976443" }, "publicationId": "PMID:31907389" }, "phenotypeStatement": "Inappropriate sinus tachycardia", "dateAssigned": "2024-02-23T10:32:06.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003563", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:242905209" }, "publicationId": "PMID:32454910" }, "phenotypeStatement": "Decreased LDL cholesterol concentration", "dateAssigned": "2023-03-28T15:16:06.000-05:00", "objectId": "HGNC:4713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976557" }, "publicationId": "PMID:29173032" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-01T14:48:49.000-06:00", "objectId": "HGNC:40" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794582" }, "publicationId": "PMID:19571538" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-08-31T21:10:10.000-05:00", "objectId": "HGNC:12744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794582" }, "publicationId": "PMID:19571538" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2023-08-31T21:12:22.000-05:00", "objectId": "HGNC:12744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012153", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959376" }, "publicationId": "PMID:20101100" }, "phenotypeStatement": "Hypotriglyceridemia", "dateAssigned": "2024-01-23T15:02:04.000-06:00", "objectId": "HGNC:9642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794577" }, "publicationId": "PMID:27599772" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2023-08-31T19:57:07.000-05:00", "objectId": "HGNC:16891" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007328", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959594" }, "publicationId": "PMID:18991844" }, "phenotypeStatement": "Impaired pain sensation", "dateAssigned": "2024-01-26T10:28:17.000-06:00", "objectId": "HGNC:3025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401977581" }, "publicationId": "PMID:37531661" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2024-03-05T14:51:38.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:407984717" }, "publicationId": "PMID:21430647" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-10-18T09:02:00.000-05:00", "objectId": "HGNC:4132" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000504", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940190" }, "publicationId": "PMID:11900601" }, "phenotypeStatement": "Abnormality of vision", "dateAssigned": "2024-01-09T10:25:41.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000364", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940190" }, "publicationId": "PMID:11900601" }, "phenotypeStatement": "Hearing abnormality", "dateAssigned": "2024-01-09T10:25:42.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004757", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329337356" }, "publicationId": "PMID:35601004" }, "phenotypeStatement": "Paroxysmal atrial fibrillation", "dateAssigned": "2023-04-28T10:34:01.000-05:00", "objectId": "HGNC:11632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001626", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329337364" }, "publicationId": "PMID:26909569" }, "phenotypeStatement": "Abnormality of the cardiovascular system", "dateAssigned": "2023-04-28T15:10:21.000-05:00", "objectId": "HGNC:31533" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:242905209" }, "publicationId": "PMID:32454910" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2023-03-28T15:06:59.000-05:00", "objectId": "HGNC:4713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002367", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11087052" }, "publicationId": "PMID:25697573" }, "phenotypeStatement": "Visual hallucination", "dateAssigned": "2024-02-27T13:13:10.000-06:00", "objectId": "HGNC:17328" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200200", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11087052" }, "publicationId": "PMID:25697573" }, "phenotypeStatement": "Olfactory hallucination", "dateAssigned": "2024-02-27T13:13:10.000-06:00", "objectId": "HGNC:17328" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976481" }, "publicationId": "PMID:24603855" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-27T13:37:50.000-06:00", "objectId": "HGNC:3721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002092", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959406" }, "publicationId": "PMID:24605778" }, "phenotypeStatement": "Pulmonary arterial hypertension", "dateAssigned": "2024-01-24T16:00:31.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976513" }, "publicationId": "PMID:22832851" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2024-02-29T09:47:49.000-06:00", "objectId": "HGNC:8846" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976541" }, "publicationId": "PMID:28632076" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2024-02-29T13:11:03.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002000", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631309" }, "publicationId": "PMID:29222009" }, "phenotypeStatement": "Short columella", "dateAssigned": "2022-11-01T14:27:56.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243049250" }, "publicationId": "PMID:22539340" }, "phenotypeStatement": "Short stature", "dateAssigned": "2023-04-06T13:58:21.000-05:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001156", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243049250" }, "publicationId": "PMID:22539340" }, "phenotypeStatement": "Brachydactyly", "dateAssigned": "2023-04-06T13:58:21.000-05:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001376", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243049250" }, "publicationId": "PMID:22539340" }, "phenotypeStatement": "Limitation of joint mobility", "dateAssigned": "2023-04-06T13:58:21.000-05:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030961", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243049250" }, "publicationId": "PMID:22539340" }, "phenotypeStatement": "Microspherophakia", "dateAssigned": "2023-04-06T13:58:21.000-05:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243049250" }, "publicationId": "PMID:22539340" }, "phenotypeStatement": "High myopia", "dateAssigned": "2023-04-06T13:58:21.000-05:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001083", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243049250" }, "publicationId": "PMID:22539340" }, "phenotypeStatement": "Ectopia lentis", "dateAssigned": "2023-04-06T13:58:21.000-05:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794577" }, "publicationId": "PMID:27599772" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2023-08-31T19:52:27.000-05:00", "objectId": "HGNC:4196" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976505" }, "publicationId": "PMID:24766650" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2025-02-24T15:33:34.000-06:00", "objectId": "HGNC:894" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976505" }, "publicationId": "PMID:24766650" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2025-02-24T15:33:34.000-06:00", "objectId": "HGNC:894" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:242905209" }, "publicationId": "PMID:32454910" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2023-03-28T15:15:40.000-05:00", "objectId": "HGNC:4713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900724" }, "publicationId": "PMID:34906413" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2023-11-16T14:41:43.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901168" }, "publicationId": "PMID:31814925" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2023-11-30T13:00:25.000-06:00", "objectId": "HGNC:4187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012056", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901274" }, "publicationId": "PMID:28510328" }, "phenotypeStatement": "Cutaneous melanoma", "dateAssigned": "2023-12-07T14:53:14.000-06:00", "objectId": "HGNC:29096" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794579" }, "publicationId": "PMID:21726544" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-08-31T20:15:16.000-05:00", "objectId": "HGNC:12744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003146", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794579" }, "publicationId": "PMID:21726544" }, "phenotypeStatement": "Hypocholesterolemia", "dateAssigned": "2023-08-31T20:34:02.000-05:00", "objectId": "HGNC:12744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794579" }, "publicationId": "PMID:21726544" }, "phenotypeStatement": "Decreased circulating apolipoprotein concentration", "dateAssigned": "2023-08-31T20:37:06.000-05:00", "objectId": "HGNC:12744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002633", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961297" }, "publicationId": "PMID:28734234" }, "phenotypeStatement": "Vasculitis", "dateAssigned": "2023-07-20T15:30:27.000-05:00", "objectId": "HGNC:4931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11079504" }, "publicationId": "PMID:26233486" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-11T14:40:09.000-05:00", "objectId": "HGNC:9163" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976557" }, "publicationId": "PMID:29173032" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-01T14:48:16.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901177" }, "publicationId": "PMID:36580284" }, "phenotypeStatement": "Abnormal aortic physiology", "dateAssigned": "2023-11-30T16:34:46.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003563", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959376" }, "publicationId": "PMID:20101100" }, "phenotypeStatement": "Decreased LDL cholesterol concentration", "dateAssigned": "2024-01-23T15:04:08.000-06:00", "objectId": "HGNC:9642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959376" }, "publicationId": "PMID:20101100" }, "phenotypeStatement": "Decreased body weight", "dateAssigned": "2024-01-23T15:09:35.000-06:00", "objectId": "HGNC:9642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004887", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150523785" }, "publicationId": "PMID:22897124" }, "phenotypeStatement": "Respiratory failure requiring assisted ventilation", "dateAssigned": "2021-11-22T12:49:06.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959592" }, "publicationId": "PMID:30790675" }, "phenotypeStatement": "Reduced responsiveness to social cues", "dateAssigned": "2024-01-26T11:30:14.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033630", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959592" }, "publicationId": "PMID:30790675" }, "phenotypeStatement": "Brain fog", "dateAssigned": "2024-01-26T11:30:14.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853746" }, "publicationId": "PMID:18635682" }, "phenotypeStatement": "Abdominal aortic aneurysm", "dateAssigned": "2023-08-29T10:44:29.000-05:00", "objectId": "HGNC:7473" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002160", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853746" }, "publicationId": "PMID:18635682" }, "phenotypeStatement": "Hyperhomocystinemia", "dateAssigned": "2023-08-29T10:56:05.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959589" }, "publicationId": "PMID:27061230" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2024-01-25T19:56:47.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959586" }, "publicationId": "PMID:10577996" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2024-01-25T15:39:40.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030852", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959586" }, "publicationId": "PMID:10577996" }, "phenotypeStatement": "High pulse pressure", "dateAssigned": "2024-01-25T15:39:40.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959589" }, "publicationId": "PMID:27061230" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2024-01-25T20:16:01.000-06:00", "objectId": "HGNC:40" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200341", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959590" }, "publicationId": "PMID:19259017" }, "phenotypeStatement": "Addictive cannabis use", "dateAssigned": "2024-01-25T20:28:54.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:404976878" }, "publicationId": "PMID:24590108" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-03-18T17:55:32.000-05:00", "objectId": "HGNC:5297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005294", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900170" }, "publicationId": "PMID:25420145" }, "phenotypeStatement": "Arterial dissection", "dateAssigned": "2023-11-08T17:46:55.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853746" }, "publicationId": "PMID:18635682" }, "phenotypeStatement": "Abdominal aortic aneurysm", "dateAssigned": "2023-08-29T10:12:34.000-05:00", "objectId": "HGNC:7861" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600504" }, "publicationId": "PMID:15004558" }, "phenotypeStatement": "Radiculomegaly", "dateAssigned": "2022-10-28T13:48:02.000-05:00", "objectId": "HGNC:20893" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153344576" }, "publicationId": "PMID:21893642" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2022-08-29T11:22:25.000-05:00", "objectId": "HGNC:494" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033051", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153344576" }, "publicationId": "PMID:21893642" }, "phenotypeStatement": "Impaired executive functioning", "dateAssigned": "2022-08-29T11:22:25.000-05:00", "objectId": "HGNC:494" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976505" }, "publicationId": "PMID:24766650" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2025-02-24T15:38:41.000-06:00", "objectId": "HGNC:7979" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025211", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597830038" }, "publicationId": "PMID:21799923" }, "phenotypeStatement": "Triggered by ethanol ingestion", "dateAssigned": "2025-02-24T16:28:33.000-06:00", "objectId": "HGNC:427" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976505" }, "publicationId": "PMID:24766650" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2025-02-24T15:38:41.000-06:00", "objectId": "HGNC:7979" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000501", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451377" }, "publicationId": "PMID:20179738" }, "phenotypeStatement": "Glaucoma", "dateAssigned": "2023-03-07T17:21:34.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000485", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451377" }, "publicationId": "PMID:20179738" }, "phenotypeStatement": "Megalocornea", "dateAssigned": "2023-03-07T17:21:34.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100693", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451377" }, "publicationId": "PMID:20179738" }, "phenotypeStatement": "Iridodonesis", "dateAssigned": "2023-03-07T17:21:34.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034375", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451377" }, "publicationId": "PMID:20179738" }, "phenotypeStatement": "Spherophakia", "dateAssigned": "2023-03-07T17:21:34.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012019", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451377" }, "publicationId": "PMID:20179738" }, "phenotypeStatement": "Lens luxation", "dateAssigned": "2023-03-07T17:21:34.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002076", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901172" }, "publicationId": "PMID:28957430" }, "phenotypeStatement": "Migraine", "dateAssigned": "2023-11-30T15:28:42.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031730", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451377" }, "publicationId": "PMID:20179738" }, "phenotypeStatement": "Axial myopia", "dateAssigned": "2023-03-07T17:21:34.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361182" }, "publicationId": "PMID:23435876" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-02-27T19:03:05.000-06:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361184" }, "publicationId": "PMID:23456391" }, "phenotypeStatement": "Abnormality of vitamin D metabolism", "dateAssigned": "2022-02-27T19:07:02.000-06:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200329", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940151" }, "publicationId": "PMID:32889058" }, "phenotypeStatement": "Problematic alcohol consumption", "dateAssigned": "2024-01-12T10:32:53.000-06:00", "objectId": "HGNC:21027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940104" }, "publicationId": "PMID:19763258" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2023-12-27T19:11:57.000-06:00", "objectId": "HGNC:4070" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976452" }, "publicationId": "PMID:37146669" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2024-02-26T11:22:39.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976452" }, "publicationId": "PMID:37146669" }, "phenotypeStatement": "Abnormal circulating metabolite concentration", "dateAssigned": "2024-02-26T11:22:39.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006702", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901175" }, "publicationId": "PMID:32887874" }, "phenotypeStatement": "Coronary artery dissection", "dateAssigned": "2023-11-30T16:07:32.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033522", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961304" }, "publicationId": "PMID:15543491" }, "phenotypeStatement": "Cerebral cavernous malformation", "dateAssigned": "2023-07-20T16:23:16.000-05:00", "objectId": "HGNC:8761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012632", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851036" }, "publicationId": "PMID:34143713" }, "phenotypeStatement": "Abnormal intraocular pressure", "dateAssigned": "2023-10-26T12:47:39.000-05:00", "objectId": "HGNC:11785" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002781", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155782906" }, "publicationId": "PMID:33074973" }, "phenotypeStatement": "Upper airway obstruction", "dateAssigned": "2022-12-08T14:39:53.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000405", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155782906" }, "publicationId": "PMID:33074973" }, "phenotypeStatement": "Conductive hearing impairment", "dateAssigned": "2022-12-08T14:39:53.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000238", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155782906" }, "publicationId": "PMID:33074973" }, "phenotypeStatement": "Hydrocephalus", "dateAssigned": "2022-12-08T14:39:53.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155782906" }, "publicationId": "PMID:33074973" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2022-12-08T14:39:53.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010919", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976429" }, "publicationId": "PMID:19525478" }, "phenotypeStatement": "Abnormal circulating homocysteine concentration", "dateAssigned": "2024-02-22T14:54:22.000-06:00", "objectId": "HGNC:9668" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0430034", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976431" }, "publicationId": "PMID:30237584" }, "phenotypeStatement": "Hypertension resistant to conventional therapy", "dateAssigned": "2024-02-22T15:35:08.000-06:00", "objectId": "HGNC:9668" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976458" }, "publicationId": "PMID:17612790" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-02-26T14:06:06.000-06:00", "objectId": "HGNC:281" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853746" }, "publicationId": "PMID:18635682" }, "phenotypeStatement": "Abdominal aortic aneurysm", "dateAssigned": "2023-08-29T10:58:16.000-05:00", "objectId": "HGNC:343" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200329", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402528883" }, "publicationId": "PMID:21676558" }, "phenotypeStatement": "Problematic alcohol consumption", "dateAssigned": "2024-03-14T16:45:22.000-05:00", "objectId": "HGNC:8010" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463937" }, "publicationId": "PMID:33953123" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-06T09:11:47.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976498" }, "publicationId": "PMID:24845178" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2024-03-06T15:44:30.000-06:00", "objectId": "HGNC:7956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500108", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463938" }, "publicationId": "PMID:33242852" }, "phenotypeStatement": "Positive urine cocaine test", "dateAssigned": "2024-03-06T11:54:36.000-06:00", "objectId": "HGNC:7956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500108", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463960" }, "publicationId": "PMID:27449273" }, "phenotypeStatement": "Positive urine cocaine test", "dateAssigned": "2024-03-08T14:43:37.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463960" }, "publicationId": "PMID:27449273" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2024-03-08T14:43:37.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976460" }, "publicationId": "PMID:21140256" }, "phenotypeStatement": "Addictive substance use", "dateAssigned": "2024-02-26T14:46:28.000-06:00", "objectId": "HGNC:11050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405096433" }, "publicationId": "PMID:23897038" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-03-19T14:51:55.000-05:00", "objectId": "HGNC:5297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794577" }, "publicationId": "PMID:27599772" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2023-08-31T19:49:02.000-05:00", "objectId": "HGNC:12744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000557", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156431215" }, "publicationId": "PMID:32165823" }, "phenotypeStatement": "Buphthalmos", "dateAssigned": "2023-03-07T12:44:07.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451377" }, "publicationId": "PMID:20179738" }, "phenotypeStatement": "High palate", "dateAssigned": "2023-03-07T17:21:34.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401977581" }, "publicationId": "PMID:37531661" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-05T14:52:24.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410207", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401977581" }, "publicationId": "PMID:37531661" }, "phenotypeStatement": "Positive methadone plasma/serum test", "dateAssigned": "2024-03-05T14:52:24.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940189" }, "publicationId": "PMID:16876132" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-01-05T10:36:06.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961321" }, "publicationId": "PMID:33879046" }, "phenotypeStatement": "Elevated circulating aspartate aminotransferase concentration", "dateAssigned": "2023-07-25T10:36:42.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961321" }, "publicationId": "PMID:33879046" }, "phenotypeStatement": "Abnormal systemic blood pressure", "dateAssigned": "2023-07-25T10:36:41.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961321" }, "publicationId": "PMID:33879046" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2023-07-25T10:36:42.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032480", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961321" }, "publicationId": "PMID:33879046" }, "phenotypeStatement": "Beta-aminoisobutyric aciduria", "dateAssigned": "2023-07-25T10:36:42.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034536", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976557" }, "publicationId": "PMID:29173032" }, "phenotypeStatement": "Ameliorated by exposure to medication", "dateAssigned": "2024-03-01T14:49:30.000-06:00", "objectId": "HGNC:712" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900724" }, "publicationId": "PMID:34906413" }, "phenotypeStatement": "Insulin insensitivity", "dateAssigned": "2023-11-16T14:42:02.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005145", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900726" }, "publicationId": "PMID:22745674" }, "phenotypeStatement": "Coronary artery stenosis", "dateAssigned": "2023-11-16T16:45:30.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012632", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851036" }, "publicationId": "PMID:34143713" }, "phenotypeStatement": "Abnormal intraocular pressure", "dateAssigned": "2023-10-26T12:49:01.000-05:00", "objectId": "HGNC:6487" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402464050" }, "publicationId": "PMID:24776921" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2024-03-11T16:58:42.000-05:00", "objectId": "HGNC:4087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901082" }, "publicationId": "PMID:28760944" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2023-11-28T14:53:05.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959331" }, "publicationId": "PMID:32745832" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2024-01-22T15:02:18.000-06:00", "objectId": "HGNC:3023" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0430037", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463959" }, "publicationId": "PMID:15630072" }, "phenotypeStatement": "Abnormal alcohol consumption", "dateAssigned": "2024-03-08T14:22:46.000-06:00", "objectId": "HGNC:4087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463950" }, "publicationId": "PMID:19428381" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2024-03-07T15:51:22.000-06:00", "objectId": "HGNC:4087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200204", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402528883" }, "publicationId": "PMID:21676558" }, "phenotypeStatement": "Disturbed perception with a stimulus", "dateAssigned": "2024-03-14T16:46:06.000-05:00", "objectId": "HGNC:8010" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030872", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401793710" }, "publicationId": "PMID:30596685" }, "phenotypeStatement": "Abnormal cardiac ventricular function", "dateAssigned": "2023-08-14T10:58:11.000-05:00", "objectId": "HGNC:3951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001290", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851041" }, "publicationId": "PMID:23626599" }, "phenotypeStatement": "Generalized hypotonia", "dateAssigned": "2023-10-26T14:11:27.000-05:00", "objectId": "HGNC:2213" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851058" }, "publicationId": "PMID:30226566" }, "phenotypeStatement": "Decreased HDL cholesterol concentration", "dateAssigned": "2023-10-27T11:05:41.000-05:00", "objectId": "HGNC:2213" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851058" }, "publicationId": "PMID:30226566" }, "phenotypeStatement": "Increased LDL cholesterol concentration", "dateAssigned": "2023-10-27T11:05:41.000-05:00", "objectId": "HGNC:2213" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794138" }, "publicationId": "PMID:20227257" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-08-23T17:32:43.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401793749" }, "publicationId": "PMID:11571236" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-08-22T12:09:48.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794138" }, "publicationId": "PMID:20227257" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-08-23T17:48:30.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008320", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794132" }, "publicationId": "PMID:23815599" }, "phenotypeStatement": "Impaired collagen-induced platelet aggregation", "dateAssigned": "2023-08-23T11:39:59.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031128", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794132" }, "publicationId": "PMID:23815599" }, "phenotypeStatement": "Impaired collagen-related peptide-induced platelet aggregation", "dateAssigned": "2023-08-23T11:39:59.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031127", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794132" }, "publicationId": "PMID:23815599" }, "phenotypeStatement": "Impaired convulxin-induced platelet aggregation", "dateAssigned": "2023-08-23T11:39:59.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001892", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794132" }, "publicationId": "PMID:23815599" }, "phenotypeStatement": "Abnormal bleeding", "dateAssigned": "2023-08-23T11:39:59.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850598" }, "publicationId": "PMID:27281273" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-10-24T13:05:47.000-05:00", "objectId": "HGNC:12478" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794443" }, "publicationId": "PMID:23840567" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-08-29T08:31:40.000-05:00", "objectId": "HGNC:17055" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597538604" }, "publicationId": "PMID:37520225" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2025-01-31T19:54:32.000-06:00", "objectId": "HGNC:8529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961321" }, "publicationId": "PMID:33879046" }, "phenotypeStatement": "Abnormal circulating creatine concentration", "dateAssigned": "2023-07-25T10:41:46.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961559" }, "publicationId": "PMID:27021335" }, "phenotypeStatement": "Systemic lupus erythematosus", "dateAssigned": "2023-07-25T11:42:04.000-05:00", "objectId": "HGNC:5358" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001871", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961559" }, "publicationId": "PMID:27021335" }, "phenotypeStatement": "Abnormality of blood and blood-forming tissues", "dateAssigned": "2023-07-25T11:42:04.000-05:00", "objectId": "HGNC:5358" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961566" }, "publicationId": "PMID:23023372" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2023-07-25T15:10:35.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976484" }, "publicationId": "PMID:27527158" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-27T14:00:03.000-06:00", "objectId": "HGNC:3721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001872", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794137" }, "publicationId": "PMID:22821001" }, "phenotypeStatement": "Abnormality of thrombocytes", "dateAssigned": "2023-08-23T15:12:59.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961575" }, "publicationId": "PMID:28942034" }, "phenotypeStatement": "Abnormal blood urea nitrogen concentration", "dateAssigned": "2023-07-25T16:26:10.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012100", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961575" }, "publicationId": "PMID:28942034" }, "phenotypeStatement": "Abnormal circulating creatinine concentration", "dateAssigned": "2023-07-25T16:26:10.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405096438" }, "publicationId": "PMID:35457612" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-03-19T16:59:17.000-05:00", "objectId": "HGNC:5297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:404976878" }, "publicationId": "PMID:24590108" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-03-18T17:45:16.000-05:00", "objectId": "HGNC:5297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405096439" }, "publicationId": "PMID:30405098" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-03-19T17:12:36.000-05:00", "objectId": "HGNC:5297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:5509583" }, "publicationId": "PMID:19500151" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2024-03-20T12:05:57.000-05:00", "objectId": "HGNC:5297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976487" }, "publicationId": "PMID:27709495" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-28T10:04:45.000-06:00", "objectId": "HGNC:3721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959331" }, "publicationId": "PMID:32745832" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2024-01-22T15:07:03.000-06:00", "objectId": "HGNC:5295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004944", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329955569" }, "publicationId": "PMID:18997786" }, "phenotypeStatement": "Dilatation of the cerebral artery", "dateAssigned": "2023-07-17T17:33:06.000-05:00", "objectId": "HGNC:18122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:13217411" }, "publicationId": "PMID:23027623" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2022-04-04T14:22:38.000-05:00", "objectId": "HGNC:6876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005181", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900135" }, "publicationId": "PMID:27517945" }, "phenotypeStatement": "Premature coronary artery atherosclerosis", "dateAssigned": "2023-11-07T17:29:23.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976462" }, "publicationId": "PMID:21070505" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-26T15:17:56.000-06:00", "objectId": "HGNC:11048" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901082" }, "publicationId": "PMID:28760944" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2023-11-28T14:53:42.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959234" }, "publicationId": "PMID:23155402" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2024-01-18T08:18:35.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794435" }, "publicationId": "PMID:28728263" }, "phenotypeStatement": "Abnormal coronary artery morphology", "dateAssigned": "2023-08-28T13:01:02.000-05:00", "objectId": "HGNC:6552" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794417" }, "publicationId": "PMID:28041267" }, "phenotypeStatement": "Abnormal platelet aggregation", "dateAssigned": "2023-08-24T15:25:59.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005268", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794417" }, "publicationId": "PMID:28041267" }, "phenotypeStatement": "Miscarriage", "dateAssigned": "2023-08-24T15:25:59.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959325" }, "publicationId": "PMID:19336370" }, "phenotypeStatement": "Patent ductus arteriosus", "dateAssigned": "2024-01-22T14:29:47.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959331" }, "publicationId": "PMID:32745832" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2024-01-22T15:04:24.000-06:00", "objectId": "HGNC:21027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0430037", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:404976875" }, "publicationId": "PMID:23757001" }, "phenotypeStatement": "Abnormal alcohol consumption", "dateAssigned": "2024-03-18T16:02:02.000-05:00", "objectId": "HGNC:5297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:404976878" }, "publicationId": "PMID:24590108" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2024-03-18T17:50:45.000-05:00", "objectId": "HGNC:5297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959601" }, "publicationId": "PMID:10412185" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-22T13:10:04.000-06:00", "objectId": "HGNC:4070" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11085524" }, "publicationId": "PMID:26425837" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2024-02-22T14:21:58.000-06:00", "objectId": "HGNC:9668" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851037" }, "publicationId": "PMID:17761941" }, "phenotypeStatement": "Increased carotid artery intimal medial thickness", "dateAssigned": "2023-10-26T13:41:48.000-05:00", "objectId": "HGNC:8095" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976452" }, "publicationId": "PMID:37146669" }, "phenotypeStatement": "Depression", "dateAssigned": "2024-02-26T11:24:22.000-06:00", "objectId": "HGNC:8156" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031467", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597830062" }, "publicationId": "PMID:33329073" }, "phenotypeStatement": "Dysregulated negative emotional state", "dateAssigned": "2025-02-28T11:18:10.000-06:00", "objectId": "HGNC:18222" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597830062" }, "publicationId": "PMID:33329073" }, "phenotypeStatement": "Amplification of relationship seeking", "dateAssigned": "2025-02-28T11:19:03.000-06:00", "objectId": "HGNC:18222" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597830074" }, "publicationId": "PMID:20430014" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2025-02-28T20:13:38.000-06:00", "objectId": "HGNC:10000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025269", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851911" }, "publicationId": "PMID:24473444" }, "phenotypeStatement": "Panic attack", "dateAssigned": "2023-10-31T10:02:02.000-05:00", "objectId": "HGNC:21072" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901168" }, "publicationId": "PMID:31814925" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2023-11-30T12:59:55.000-06:00", "objectId": "HGNC:2860" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031888", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901074" }, "publicationId": "PMID:34262949" }, "phenotypeStatement": "Abnormal HDL cholesterol concentration", "dateAssigned": "2023-11-27T16:14:43.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976426" }, "publicationId": "PMID:21767287" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2024-02-22T13:44:15.000-06:00", "objectId": "HGNC:9668" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940140" }, "publicationId": "PMID:21857968" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2023-12-29T18:38:22.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901077" }, "publicationId": "PMID:25003556" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2023-11-28T12:11:06.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012332", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940162" }, "publicationId": "PMID:35970061" }, "phenotypeStatement": "Abnormal autonomic nervous system physiology", "dateAssigned": "2024-01-02T14:29:16.000-06:00", "objectId": "HGNC:9969" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007078", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940162" }, "publicationId": "PMID:35970061" }, "phenotypeStatement": "Decreased amplitude of sensory action potentials", "dateAssigned": "2024-01-02T14:29:16.000-06:00", "objectId": "HGNC:9969" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976504" }, "publicationId": "PMID:20090668" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2024-02-28T13:27:31.000-06:00", "objectId": "HGNC:3721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329970276" }, "publicationId": "PMID:19706030" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-07-28T09:41:54.000-05:00", "objectId": "HGNC:7590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976474" }, "publicationId": "PMID:16740595" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-02-27T11:11:44.000-06:00", "objectId": "HGNC:2719" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976474" }, "publicationId": "PMID:16740595" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-02-27T11:29:52.000-06:00", "objectId": "HGNC:13286" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976477" }, "publicationId": "PMID:15879433" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-02-27T11:44:45.000-06:00", "objectId": "HGNC:2719" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794577" }, "publicationId": "PMID:27599772" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2023-08-31T19:55:50.000-05:00", "objectId": "HGNC:6492" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901082" }, "publicationId": "PMID:28760944" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2023-11-28T14:52:24.000-06:00", "objectId": "HGNC:2860" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901168" }, "publicationId": "PMID:31814925" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2023-11-30T12:59:25.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401842365" }, "publicationId": "PMID:21903943" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-10-16T14:27:45.000-05:00", "objectId": "HGNC:7966" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401842365" }, "publicationId": "PMID:21903943" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-10-16T14:27:45.000-05:00", "objectId": "HGNC:7966" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401842367" }, "publicationId": "PMID:35907563" }, "phenotypeStatement": "Atherosclerosis", "dateAssigned": "2023-10-16T15:10:42.000-05:00", "objectId": "HGNC:7966" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901268" }, "publicationId": "PMID:12040339" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-12-07T13:13:02.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976460" }, "publicationId": "PMID:21140256" }, "phenotypeStatement": "Addictive substance use", "dateAssigned": "2024-02-26T14:36:19.000-06:00", "objectId": "HGNC:281" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976462" }, "publicationId": "PMID:21070505" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-26T15:21:27.000-06:00", "objectId": "HGNC:281" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794455" }, "publicationId": "PMID:22901851" }, "phenotypeStatement": "Abnormal platelet aggregation", "dateAssigned": "2023-08-29T13:35:10.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005268", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794455" }, "publicationId": "PMID:22901851" }, "phenotypeStatement": "Miscarriage", "dateAssigned": "2023-08-29T13:35:10.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002538", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901149" }, "publicationId": "PMID:28478978" }, "phenotypeStatement": "Abnormal cerebral cortex morphology", "dateAssigned": "2023-12-07T13:29:53.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155900760" }, "publicationId": "PMID:28203482" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-02-17T17:56:04.000-06:00", "objectId": "HGNC:4713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850599" }, "publicationId": "PMID:28821857" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-10-24T13:47:19.000-05:00", "objectId": "HGNC:12711" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000488", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850599" }, "publicationId": "PMID:28821857" }, "phenotypeStatement": "Retinopathy", "dateAssigned": "2023-10-24T13:47:19.000-05:00", "objectId": "HGNC:12711" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850599" }, "publicationId": "PMID:28821857" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-10-24T13:51:32.000-05:00", "objectId": "HGNC:12762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000488", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850599" }, "publicationId": "PMID:28821857" }, "phenotypeStatement": "Retinopathy", "dateAssigned": "2023-10-24T13:51:32.000-05:00", "objectId": "HGNC:12762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329956420" }, "publicationId": "PMID:28706949" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2023-07-24T09:20:46.000-05:00", "objectId": "HGNC:4814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959400" }, "publicationId": "PMID:28108096" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2024-01-24T12:09:47.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001717", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11054804" }, "publicationId": "PMID:26789557" }, "phenotypeStatement": "Coronary artery calcification", "dateAssigned": "2023-12-05T17:06:19.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961564" }, "publicationId": "PMID:37120436" }, "phenotypeStatement": "Abnormal circulating glutamine family amino acid concentration", "dateAssigned": "2023-07-25T13:47:51.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959300" }, "publicationId": "PMID:16499480" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-01-29T14:43:53.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794454" }, "publicationId": "PMID:20458436" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-08-29T13:43:33.000-05:00", "objectId": "HGNC:9205" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794428" }, "publicationId": "PMID:25111179" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-08-28T12:07:28.000-05:00", "objectId": "HGNC:3122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401793748" }, "publicationId": "PMID:12560230" }, "phenotypeStatement": "Abnormal platelet aggregation", "dateAssigned": "2023-08-22T11:23:16.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011878", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401793748" }, "publicationId": "PMID:12560230" }, "phenotypeStatement": "Abnormal platelet membrane protein expression", "dateAssigned": "2023-08-22T11:23:16.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597830062" }, "publicationId": "PMID:33329073" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2025-02-28T11:14:25.000-06:00", "objectId": "HGNC:18222" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959233" }, "publicationId": "PMID:21312287" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-01-29T11:41:29.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11070870" }, "publicationId": "PMID:25978827" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-28T18:26:56.000-06:00", "objectId": "HGNC:4600" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961564" }, "publicationId": "PMID:37120436" }, "phenotypeStatement": "Abnormal circulating metabolite concentration", "dateAssigned": "2023-07-25T13:48:32.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794569" }, "publicationId": "PMID:33076381" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-08-30T17:33:07.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959233" }, "publicationId": "PMID:21312287" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-01-29T11:52:55.000-06:00", "objectId": "HGNC:1957" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794440" }, "publicationId": "PMID:17105818" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-08-28T13:43:58.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959300" }, "publicationId": "PMID:16499480" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-01-29T14:49:53.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031845", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976541" }, "publicationId": "PMID:28632076" }, "phenotypeStatement": "Abnormal libido", "dateAssigned": "2024-02-29T13:11:49.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901155" }, "publicationId": "PMID:19327107" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-11-29T17:18:45.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150523785" }, "publicationId": "PMID:22897124" }, "phenotypeStatement": "Acute respiratory distress syndrome", "dateAssigned": "2021-11-22T12:48:53.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001744", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150523788" }, "publicationId": "PMID:24076593" }, "phenotypeStatement": "Splenomegaly", "dateAssigned": "2021-11-22T12:56:34.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959744" }, "publicationId": "PMID:32407152" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2024-01-29T15:24:54.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976452" }, "publicationId": "PMID:37146669" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2024-02-26T11:23:29.000-06:00", "objectId": "HGNC:8153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976461" }, "publicationId": "PMID:22216278" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2024-02-26T14:26:16.000-06:00", "objectId": "HGNC:9668" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11055500" }, "publicationId": "PMID:22152955" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-12-05T16:44:24.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11052168" }, "publicationId": "PMID:23424626" }, "phenotypeStatement": "Abnormality of the menstrual cycle", "dateAssigned": "2023-12-05T17:41:16.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940149" }, "publicationId": "PMID:20860878" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2023-12-30T21:08:32.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000718", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940149" }, "publicationId": "PMID:20860878" }, "phenotypeStatement": "Aggressive behavior", "dateAssigned": "2023-12-30T21:08:32.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940149" }, "publicationId": "PMID:20860878" }, "phenotypeStatement": "Depression", "dateAssigned": "2023-12-30T21:08:33.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940149" }, "publicationId": "PMID:20860878" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-30T21:10:51.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976551" }, "publicationId": "PMID:20554694" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-29T16:34:00.000-06:00", "objectId": "HGNC:12693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900745" }, "publicationId": "PMID:34758666" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2023-11-20T17:29:54.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976462" }, "publicationId": "PMID:21070505" }, "phenotypeStatement": "Family history", "dateAssigned": "2024-02-26T15:21:56.000-06:00", "objectId": "HGNC:281" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976473" }, "publicationId": "PMID:17184203" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-02-27T10:33:17.000-06:00", "objectId": "HGNC:2719" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001710", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940163" }, "publicationId": "PMID:24585533" }, "phenotypeStatement": "Conotruncal defect", "dateAssigned": "2024-01-02T14:48:48.000-06:00", "objectId": "HGNC:9969" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940133" }, "publicationId": "PMID:20517217" }, "phenotypeStatement": "Family history", "dateAssigned": "2023-12-29T14:12:10.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11087052" }, "publicationId": "PMID:25697573" }, "phenotypeStatement": "Auditory hallucination", "dateAssigned": "2024-02-27T13:13:49.000-06:00", "objectId": "HGNC:17328" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012632", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851036" }, "publicationId": "PMID:34143713" }, "phenotypeStatement": "Abnormal intraocular pressure", "dateAssigned": "2023-10-26T12:48:34.000-05:00", "objectId": "HGNC:2213" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0045081", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794569" }, "publicationId": "PMID:33076381" }, "phenotypeStatement": "Abnormality of body mass index", "dateAssigned": "2023-08-30T17:31:48.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976505" }, "publicationId": "PMID:24766650" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2025-02-24T15:37:10.000-06:00", "objectId": "HGNC:4132" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976505" }, "publicationId": "PMID:24766650" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2025-02-24T15:37:10.000-06:00", "objectId": "HGNC:4132" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:2313891" }, "publicationId": "PMID:19046748" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-11-29T16:41:58.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001717", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11057923" }, "publicationId": "PMID:23561647" }, "phenotypeStatement": "Coronary artery calcification", "dateAssigned": "2023-11-30T15:49:37.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008872", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155598678" }, "publicationId": "PMID:30291340" }, "phenotypeStatement": "Feeding difficulties in infancy", "dateAssigned": "2022-10-19T11:45:25.000-05:00", "objectId": "HGNC:7001" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155598680" }, "publicationId": "PMID:24678003" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2022-10-19T12:49:02.000-05:00", "objectId": "HGNC:7001" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001711", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243065272" }, "publicationId": "PMID:25497880" }, "phenotypeStatement": "Abnormal left ventricle morphology", "dateAssigned": "2023-04-17T15:30:14.000-05:00", "objectId": "HGNC:3036" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451378" }, "publicationId": "PMID:19361779" }, "phenotypeStatement": "Primary congenital glaucoma", "dateAssigned": "2023-03-07T17:59:44.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401793749" }, "publicationId": "PMID:11571236" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-08-22T12:15:29.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794413" }, "publicationId": "PMID:23168074" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-08-24T14:52:15.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030402", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794413" }, "publicationId": "PMID:23168074" }, "phenotypeStatement": "Abnormal platelet aggregation", "dateAssigned": "2023-08-24T14:52:15.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:598092485" }, "publicationId": "PMID:28990359" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2025-03-21T13:17:38.000-05:00", "objectId": "HGNC:29349" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976505" }, "publicationId": "PMID:24766650" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2025-02-24T15:35:52.000-06:00", "objectId": "HGNC:2356" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976505" }, "publicationId": "PMID:24766650" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2025-02-24T15:35:52.000-06:00", "objectId": "HGNC:2356" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940136" }, "publicationId": "PMID:20188797" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2023-12-29T14:33:07.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012146", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401938646" }, "publicationId": "PMID:30586737" }, "phenotypeStatement": "Abnormality of von Willebrand factor", "dateAssigned": "2023-12-18T11:39:27.000-06:00", "objectId": "HGNC:17294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401938646" }, "publicationId": "PMID:30586737" }, "phenotypeStatement": "Abnormal factor VIII activity", "dateAssigned": "2023-12-18T11:39:27.000-06:00", "objectId": "HGNC:17294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940148" }, "publicationId": "PMID:25035107" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-29T20:50:19.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959747" }, "publicationId": "PMID:22208661" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-01-29T15:45:04.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329969899" }, "publicationId": "PMID:24186881" }, "phenotypeStatement": "Abnormal circulating glutamine family amino acid concentration", "dateAssigned": "2023-07-26T15:22:05.000-05:00", "objectId": "HGNC:2715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004420", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401793750" }, "publicationId": "PMID:15306180" }, "phenotypeStatement": "Arterial thrombosis", "dateAssigned": "2023-08-22T14:19:44.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401793750" }, "publicationId": "PMID:15306180" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-08-22T14:21:26.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401793754" }, "publicationId": "PMID:12417295" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-08-22T14:51:06.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401938619" }, "publicationId": "PMID:28698188" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2023-12-14T09:15:00.000-06:00", "objectId": "HGNC:11186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901167" }, "publicationId": "PMID:29804528" }, "phenotypeStatement": "Obesity", "dateAssigned": "2023-11-30T12:13:04.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100512", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901167" }, "publicationId": "PMID:29804528" }, "phenotypeStatement": "Decreased circulating vitamin D concentration", "dateAssigned": "2023-11-30T12:13:04.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853746" }, "publicationId": "PMID:18635682" }, "phenotypeStatement": "Abdominal aortic aneurysm", "dateAssigned": "2023-08-29T10:40:45.000-05:00", "objectId": "HGNC:7432" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001717", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901247" }, "publicationId": "PMID:34241534" }, "phenotypeStatement": "Coronary artery calcification", "dateAssigned": "2023-12-06T15:49:48.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901167" }, "publicationId": "PMID:29804528" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-11-30T12:13:04.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853746" }, "publicationId": "PMID:18635682" }, "phenotypeStatement": "Abdominal aortic aneurysm", "dateAssigned": "2023-08-29T11:01:35.000-05:00", "objectId": "HGNC:7468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003124", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794579" }, "publicationId": "PMID:21726544" }, "phenotypeStatement": "Hypercholesterolemia", "dateAssigned": "2023-08-31T20:40:14.000-05:00", "objectId": "HGNC:12744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031798", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794579" }, "publicationId": "PMID:21726544" }, "phenotypeStatement": "Elevated circulating apolipoprotein B concentration", "dateAssigned": "2023-08-31T20:40:14.000-05:00", "objectId": "HGNC:12744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151356991" }, "publicationId": "PMID:21887682" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-02-22T14:23:48.000-06:00", "objectId": "HGNC:6943" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001945", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150523788" }, "publicationId": "PMID:24076593" }, "phenotypeStatement": "Fever", "dateAssigned": "2021-11-22T12:56:06.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794454" }, "publicationId": "PMID:20458436" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-08-29T13:41:39.000-05:00", "objectId": "HGNC:7468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002862", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150527861" }, "publicationId": "PMID:31143301" }, "phenotypeStatement": "Bladder carcinoma", "dateAssigned": "2021-12-06T23:17:36.000-06:00", "objectId": "HGNC:903" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794454" }, "publicationId": "PMID:20458436" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-08-29T13:52:14.000-05:00", "objectId": "HGNC:12441" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794563" }, "publicationId": "PMID:19278955" }, "phenotypeStatement": "Venous thrombosis", "dateAssigned": "2023-08-30T15:09:56.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031418", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401965429" }, "publicationId": "PMID:21676396" }, "phenotypeStatement": "Increased body mass index", "dateAssigned": "2024-02-07T14:08:45.000-06:00", "objectId": "HGNC:9642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401965429" }, "publicationId": "PMID:21676396" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2024-02-07T14:08:45.000-06:00", "objectId": "HGNC:9642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011297", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048418" }, "publicationId": "PMID:32275884" }, "phenotypeStatement": "Abnormal digit morphology", "dateAssigned": "2023-03-29T12:56:38.000-05:00", "objectId": "HGNC:17859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002878", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048418" }, "publicationId": "PMID:32275884" }, "phenotypeStatement": "Respiratory failure", "dateAssigned": "2023-03-29T12:56:38.000-05:00", "objectId": "HGNC:17859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012373", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048418" }, "publicationId": "PMID:32275884" }, "phenotypeStatement": "Abnormal eye physiology", "dateAssigned": "2023-03-29T12:56:38.000-05:00", "objectId": "HGNC:17859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048418" }, "publicationId": "PMID:32275884" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2023-03-29T12:56:38.000-05:00", "objectId": "HGNC:17859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002086", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048418" }, "publicationId": "PMID:32275884" }, "phenotypeStatement": "Abnormality of the respiratory system", "dateAssigned": "2023-03-29T12:56:38.000-05:00", "objectId": "HGNC:17859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010702", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150523788" }, "publicationId": "PMID:24076593" }, "phenotypeStatement": "Increased circulating immunoglobulin concentration", "dateAssigned": "2021-11-22T12:56:45.000-06:00", "objectId": "HGNC:6025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030078", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:150524283" }, "publicationId": "PMID:25144241" }, "phenotypeStatement": "Lung adenocarcinoma", "dateAssigned": "2021-11-24T08:20:51.000-06:00", "objectId": "HGNC:2433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000707", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048418" }, "publicationId": "PMID:32275884" }, "phenotypeStatement": "Abnormality of the nervous system", "dateAssigned": "2023-03-29T12:56:38.000-05:00", "objectId": "HGNC:17859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048418" }, "publicationId": "PMID:32275884" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2023-03-29T12:56:38.000-05:00", "objectId": "HGNC:17859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048418" }, "publicationId": "PMID:32275884" }, "phenotypeStatement": "Thin corpus callosum", "dateAssigned": "2023-03-29T12:56:38.000-05:00", "objectId": "HGNC:17859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048418" }, "publicationId": "PMID:32275884" }, "phenotypeStatement": "Ventriculomegaly", "dateAssigned": "2023-03-29T12:56:38.000-05:00", "objectId": "HGNC:17859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048418" }, "publicationId": "PMID:32275884" }, "phenotypeStatement": "Small for gestational age", "dateAssigned": "2023-03-29T12:56:38.000-05:00", "objectId": "HGNC:17859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002092", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901150" }, "publicationId": "PMID:32236489" }, "phenotypeStatement": "Pulmonary arterial hypertension", "dateAssigned": "2023-11-29T15:32:58.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976551" }, "publicationId": "PMID:20554694" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-29T16:50:43.000-06:00", "objectId": "HGNC:2082" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976551" }, "publicationId": "PMID:20554694" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-29T16:54:20.000-06:00", "objectId": "HGNC:90" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976551" }, "publicationId": "PMID:20554694" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-29T16:55:58.000-06:00", "objectId": "HGNC:11813" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901149" }, "publicationId": "PMID:28478978" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-11-29T15:04:33.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853746" }, "publicationId": "PMID:18635682" }, "phenotypeStatement": "Abdominal aortic aneurysm", "dateAssigned": "2023-08-29T11:10:49.000-05:00", "objectId": "HGNC:12441" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794454" }, "publicationId": "PMID:20458436" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-08-29T13:38:37.000-05:00", "objectId": "HGNC:3788" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012125", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153305950" }, "publicationId": "PMID:21603658" }, "phenotypeStatement": "Prostate cancer", "dateAssigned": "2022-08-10T15:07:15.000-05:00", "objectId": "HGNC:3392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003745", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153305950" }, "publicationId": "PMID:21603658" }, "phenotypeStatement": "Sporadic", "dateAssigned": "2022-08-10T15:07:15.000-05:00", "objectId": "HGNC:3392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901243" }, "publicationId": "PMID:27066539" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-12-06T14:15:08.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155804265" }, "publicationId": "PMID:35348676" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "2023-01-12T10:19:31.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155804265" }, "publicationId": "PMID:35348676" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2023-01-12T10:19:31.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008070", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071178" }, "publicationId": "PMID:20882035" }, "phenotypeStatement": "Sparse hair", "dateAssigned": "2023-01-11T11:32:56.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071178" }, "publicationId": "PMID:20882035" }, "phenotypeStatement": "Short neck", "dateAssigned": "2023-01-11T11:32:56.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071178" }, "publicationId": "PMID:20882035" }, "phenotypeStatement": "Short stature", "dateAssigned": "2023-01-11T11:32:56.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004719", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155791686" }, "publicationId": "PMID:19177160" }, "phenotypeStatement": "Hyperechogenic kidneys", "dateAssigned": "2023-01-06T12:14:25.000-06:00", "objectId": "HGNC:7907" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006702", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901252" }, "publicationId": "PMID:32374345" }, "phenotypeStatement": "Coronary artery dissection", "dateAssigned": "2023-12-06T16:15:01.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794137" }, "publicationId": "PMID:22821001" }, "phenotypeStatement": "Venous thrombosis", "dateAssigned": "2023-08-23T15:17:40.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071178" }, "publicationId": "PMID:20882035" }, "phenotypeStatement": "High palate", "dateAssigned": "2023-01-11T11:32:56.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071178" }, "publicationId": "PMID:20882035" }, "phenotypeStatement": "Delayed ability to walk", "dateAssigned": "2023-01-11T11:32:56.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071178" }, "publicationId": "PMID:20882035" }, "phenotypeStatement": "Relative macrocephaly", "dateAssigned": "2023-01-11T11:32:56.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071178" }, "publicationId": "PMID:20882035" }, "phenotypeStatement": "Low-set ears", "dateAssigned": "2023-01-11T11:32:56.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071178" }, "publicationId": "PMID:20882035" }, "phenotypeStatement": "Broad forehead", "dateAssigned": "2023-01-11T11:32:56.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155804265" }, "publicationId": "PMID:35348676" }, "phenotypeStatement": "Relative macrocephaly", "dateAssigned": "2023-01-12T10:19:31.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560855" }, "publicationId": "PMID:27545676" }, "phenotypeStatement": "Failure to thrive", "dateAssigned": "2022-11-08T10:04:47.000-06:00", "objectId": "HGNC:11183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560855" }, "publicationId": "PMID:27545676" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2022-11-08T10:04:47.000-06:00", "objectId": "HGNC:11183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560855" }, "publicationId": "PMID:27545676" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "2022-11-08T10:04:47.000-06:00", "objectId": "HGNC:11183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329950498" }, "publicationId": "PMID:36869404" }, "phenotypeStatement": "Abnormal systemic blood pressure", "dateAssigned": "2023-12-18T15:58:35.000-06:00", "objectId": "HGNC:15983" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329950498" }, "publicationId": "PMID:36869404" }, "phenotypeStatement": "Abnormal systemic blood pressure", "dateAssigned": "2023-12-18T15:58:36.000-06:00", "objectId": "HGNC:2209" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048420" }, "publicationId": "PMID:20802478" }, "phenotypeStatement": "Elevated circulating alkaline phosphatase concentration", "dateAssigned": "2023-03-29T16:22:15.000-05:00", "objectId": "HGNC:26031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048420" }, "publicationId": "PMID:20802478" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2023-03-29T16:22:15.000-05:00", "objectId": "HGNC:26031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048420" }, "publicationId": "PMID:20802478" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2023-03-29T16:22:15.000-05:00", "objectId": "HGNC:26031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048420" }, "publicationId": "PMID:20802478" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2023-03-29T16:22:15.000-05:00", "objectId": "HGNC:26031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000637", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048420" }, "publicationId": "PMID:20802478" }, "phenotypeStatement": "Long palpebral fissure", "dateAssigned": "2023-03-29T16:22:15.000-05:00", "objectId": "HGNC:26031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001711", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401793753" }, "publicationId": "PMID:18028454" }, "phenotypeStatement": "Abnormal left ventricle morphology", "dateAssigned": "2023-08-22T14:28:49.000-05:00", "objectId": "HGNC:16067" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012190", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048423" }, "publicationId": "PMID:34077009" }, "phenotypeStatement": "T-cell lymphoma", "dateAssigned": "2023-03-29T17:52:51.000-05:00", "objectId": "HGNC:4713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002714", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048420" }, "publicationId": "PMID:20802478" }, "phenotypeStatement": "Downturned corners of mouth", "dateAssigned": "2023-03-29T16:22:15.000-05:00", "objectId": "HGNC:26031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009882", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048420" }, "publicationId": "PMID:20802478" }, "phenotypeStatement": "Short distal phalanx of finger", "dateAssigned": "2023-03-29T16:22:15.000-05:00", "objectId": "HGNC:26031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001792", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048420" }, "publicationId": "PMID:20802478" }, "phenotypeStatement": "Small nail", "dateAssigned": "2023-03-29T16:22:15.000-05:00", "objectId": "HGNC:26031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000431", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048420" }, "publicationId": "PMID:20802478" }, "phenotypeStatement": "Wide nasal bridge", "dateAssigned": "2023-03-29T16:22:15.000-05:00", "objectId": "HGNC:26031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401793749" }, "publicationId": "PMID:11571236" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-08-22T12:09:57.000-05:00", "objectId": "HGNC:14388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959228" }, "publicationId": "PMID:27644662" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2024-01-17T14:20:23.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002076", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901243" }, "publicationId": "PMID:27066539" }, "phenotypeStatement": "Migraine", "dateAssigned": "2023-12-06T14:20:00.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959230" }, "publicationId": "PMID:17206495" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-01-17T15:31:38.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000271", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155791562" }, "publicationId": "PMID:20358587" }, "phenotypeStatement": "Abnormality of the face", "dateAssigned": "2022-12-20T13:35:04.000-06:00", "objectId": "HGNC:6842" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012311", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959216" }, "publicationId": "PMID:23314186" }, "phenotypeStatement": "Increased total monocyte count", "dateAssigned": "2024-01-16T14:11:41.000-06:00", "objectId": "HGNC:18429" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048423" }, "publicationId": "PMID:34077009" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2023-03-29T17:50:18.000-05:00", "objectId": "HGNC:4713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243048423" }, "publicationId": "PMID:34077009" }, "phenotypeStatement": "Diabetes mellitus", "dateAssigned": "2023-03-29T17:50:18.000-05:00", "objectId": "HGNC:4713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976551" }, "publicationId": "PMID:20554694" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-29T16:29:26.000-06:00", "objectId": "HGNC:701" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976551" }, "publicationId": "PMID:20554694" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-29T16:37:19.000-06:00", "objectId": "HGNC:18984" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020169", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:407445199" }, "publicationId": "PMID:25065544" }, "phenotypeStatement": "Abnormal drug response", "dateAssigned": "2024-08-21T16:23:54.000-05:00", "objectId": "HGNC:391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001635", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329349356" }, "publicationId": "PMID:15135700" }, "phenotypeStatement": "Congestive heart failure", "dateAssigned": "2023-05-09T14:16:48.000-05:00", "objectId": "HGNC:468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008151", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:158013770" }, "publicationId": "PMID:31041585" }, "phenotypeStatement": "Prolonged prothrombin time", "dateAssigned": "2023-03-16T14:32:05.000-05:00", "objectId": "HGNC:4713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401901147" }, "publicationId": "PMID:19040046" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-11-29T14:30:59.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Paranoia", "dateAssigned": "2023-10-31T14:07:27.000-05:00", "objectId": "HGNC:2952" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001574", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155791562" }, "publicationId": "PMID:20358587" }, "phenotypeStatement": "Abnormality of the integument", "dateAssigned": "2022-12-20T13:35:04.000-06:00", "objectId": "HGNC:6842" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008070", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155791562" }, "publicationId": "PMID:20358587" }, "phenotypeStatement": "Sparse hair", "dateAssigned": "2022-12-20T13:35:04.000-06:00", "objectId": "HGNC:6842" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155791562" }, "publicationId": "PMID:20358587" }, "phenotypeStatement": "Curly hair", "dateAssigned": "2022-12-20T13:35:04.000-06:00", "objectId": "HGNC:6842" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100840", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155791562" }, "publicationId": "PMID:20358587" }, "phenotypeStatement": "Aplasia/Hypoplasia of the eyebrow", "dateAssigned": "2022-12-20T13:35:04.000-06:00", "objectId": "HGNC:6842" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007367", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329956416" }, "publicationId": "PMID:30232674" }, "phenotypeStatement": "Atrophy/Degeneration affecting the central nervous system", "dateAssigned": "2023-07-19T11:30:57.000-05:00", "objectId": "HGNC:4814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002160", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:158013770" }, "publicationId": "PMID:31041585" }, "phenotypeStatement": "Hyperhomocystinemia", "dateAssigned": "2023-03-16T14:36:27.000-05:00", "objectId": "HGNC:4713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005202", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153305954" }, "publicationId": "PMID:11398794" }, "phenotypeStatement": "Helicobacter pylori infection", "dateAssigned": "2022-08-10T18:22:21.000-05:00", "objectId": "HGNC:591" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0045038", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153305955" }, "publicationId": "PMID:21465313" }, "phenotypeStatement": "Gastric lymphoma", "dateAssigned": "2022-08-10T18:36:46.000-05:00", "objectId": "HGNC:591" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853746" }, "publicationId": "PMID:18635682" }, "phenotypeStatement": "Abdominal aortic aneurysm", "dateAssigned": "2023-08-29T11:05:48.000-05:00", "objectId": "HGNC:10937" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850599" }, "publicationId": "PMID:28821857" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-10-24T13:53:03.000-05:00", "objectId": "HGNC:21050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000488", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850599" }, "publicationId": "PMID:28821857" }, "phenotypeStatement": "Retinopathy", "dateAssigned": "2023-10-24T13:53:03.000-05:00", "objectId": "HGNC:21050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062353" }, "publicationId": "PMID:22541558" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2023-01-16T15:55:24.000-06:00", "objectId": "HGNC:10771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000494", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062353" }, "publicationId": "PMID:22541558" }, "phenotypeStatement": "Downslanted palpebral fissures", "dateAssigned": "2023-01-16T15:55:24.000-06:00", "objectId": "HGNC:10771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:158013770" }, "publicationId": "PMID:31041585" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2023-03-16T13:58:10.000-05:00", "objectId": "HGNC:4713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794454" }, "publicationId": "PMID:20458436" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-08-29T13:32:49.000-05:00", "objectId": "HGNC:1047" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463942" }, "publicationId": "PMID:32757697" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2024-03-06T13:14:27.000-06:00", "objectId": "HGNC:7956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463945" }, "publicationId": "PMID:22309839" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-03-06T14:42:58.000-06:00", "objectId": "HGNC:7956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463944" }, "publicationId": "PMID:29465008" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2024-03-06T13:45:52.000-06:00", "objectId": "HGNC:7956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552967" }, "publicationId": "PMID:27426734" }, "phenotypeStatement": "Slanting of the palpebral fissure", "dateAssigned": "2022-12-19T16:09:42.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000293", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552967" }, "publicationId": "PMID:27426734" }, "phenotypeStatement": "Full cheeks", "dateAssigned": "2022-12-19T16:09:42.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552967" }, "publicationId": "PMID:27426734" }, "phenotypeStatement": "Posteriorly rotated ears", "dateAssigned": "2022-12-19T16:09:42.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552967" }, "publicationId": "PMID:27426734" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2022-12-19T16:09:42.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552967" }, "publicationId": "PMID:27426734" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2022-12-19T16:09:42.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009815", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552967" }, "publicationId": "PMID:27426734" }, "phenotypeStatement": "Aplasia/hypoplasia of the extremities", "dateAssigned": "2022-12-19T16:09:42.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010761", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631309" }, "publicationId": "PMID:29222009" }, "phenotypeStatement": "Broad columella", "dateAssigned": "2022-11-01T14:27:57.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000431", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631309" }, "publicationId": "PMID:29222009" }, "phenotypeStatement": "Wide nasal bridge", "dateAssigned": "2022-11-01T14:27:57.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012811", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631309" }, "publicationId": "PMID:29222009" }, "phenotypeStatement": "Wide nasal ridge", "dateAssigned": "2022-11-01T14:27:57.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001172", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062353" }, "publicationId": "PMID:22541558" }, "phenotypeStatement": "Abnormal thumb morphology", "dateAssigned": "2023-01-16T15:55:24.000-06:00", "objectId": "HGNC:10771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001156", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552967" }, "publicationId": "PMID:27426734" }, "phenotypeStatement": "Brachydactyly", "dateAssigned": "2022-12-19T16:09:42.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002949", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552967" }, "publicationId": "PMID:27426734" }, "phenotypeStatement": "Fused cervical vertebrae", "dateAssigned": "2022-12-19T16:09:42.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001654", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552967" }, "publicationId": "PMID:27426734" }, "phenotypeStatement": "Abnormal heart valve morphology", "dateAssigned": "2022-12-19T16:09:42.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552967" }, "publicationId": "PMID:27426734" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2022-12-19T16:09:42.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001525", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552967" }, "publicationId": "PMID:27426734" }, "phenotypeStatement": "Severe failure to thrive", "dateAssigned": "2022-12-19T16:09:42.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005112", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329853746" }, "publicationId": "PMID:18635682" }, "phenotypeStatement": "Abdominal aortic aneurysm", "dateAssigned": "2023-08-29T11:17:26.000-05:00", "objectId": "HGNC:3788" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552967" }, "publicationId": "PMID:27426734" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2022-12-19T16:09:42.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033519", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940150" }, "publicationId": "PMID:17187009" }, "phenotypeStatement": "Addictive methamphetamine use", "dateAssigned": "2023-12-31T19:04:45.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940154" }, "publicationId": "PMID:12476424" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2023-12-31T19:32:20.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033519", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940124" }, "publicationId": "PMID:15274053" }, "phenotypeStatement": "Addictive methamphetamine use", "dateAssigned": "2023-12-29T11:09:35.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401965404" }, "publicationId": "PMID:15715684" }, "phenotypeStatement": "Hypertriglyceridemia", "dateAssigned": "2024-02-05T16:27:53.000-06:00", "objectId": "HGNC:9642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552767" }, "publicationId": "PMID:26727527" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-27T08:46:56.000-06:00", "objectId": "HGNC:4070" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940190" }, "publicationId": "PMID:11900601" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-01-09T09:37:55.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641229" }, "publicationId": "PMID:29393965" }, "phenotypeStatement": "Language impairment", "dateAssigned": "2022-11-02T11:05:44.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323305" }, "publicationId": "PMID:25407497" }, "phenotypeStatement": "Neoplasm of the rectum", "dateAssigned": "2022-08-12T11:56:57.000-05:00", "objectId": "HGNC:1919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001875", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323316" }, "publicationId": "PMID:28924235" }, "phenotypeStatement": "Decreased total neutrophil count", "dateAssigned": "2022-08-12T16:35:44.000-05:00", "objectId": "HGNC:9175" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033051", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940139" }, "publicationId": "PMID:31301644" }, "phenotypeStatement": "Impaired executive functioning", "dateAssigned": "2024-01-24T15:18:05.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959308" }, "publicationId": "PMID:19023276" }, "phenotypeStatement": "Elevated systolic blood pressure", "dateAssigned": "2024-01-25T17:12:53.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959308" }, "publicationId": "PMID:19023276" }, "phenotypeStatement": "Elevated diastolic blood pressure", "dateAssigned": "2024-01-25T17:12:53.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959376" }, "publicationId": "PMID:20101100" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2024-01-23T14:54:11.000-06:00", "objectId": "HGNC:9642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959373" }, "publicationId": "PMID:25415204" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2024-01-22T17:06:16.000-06:00", "objectId": "HGNC:21027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451372" }, "publicationId": "PMID:28384041" }, "phenotypeStatement": "Primary congenital glaucoma", "dateAssigned": "2023-03-07T13:25:54.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000709", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153344593" }, "publicationId": "PMID:31553412" }, "phenotypeStatement": "Psychosis", "dateAssigned": "2022-08-30T10:31:32.000-05:00", "objectId": "HGNC:494" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007957", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156431215" }, "publicationId": "PMID:32165823" }, "phenotypeStatement": "Corneal opacity", "dateAssigned": "2023-03-07T12:44:44.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323305" }, "publicationId": "PMID:25407497" }, "phenotypeStatement": "Lymphoma", "dateAssigned": "2022-08-12T11:55:33.000-05:00", "objectId": "HGNC:1919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959376" }, "publicationId": "PMID:20101100" }, "phenotypeStatement": "Insulin resistance", "dateAssigned": "2024-01-23T15:13:53.000-06:00", "objectId": "HGNC:9642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153344543" }, "publicationId": "PMID:29516665" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-08-24T11:33:35.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155804295" }, "publicationId": "PMID:23568615" }, "phenotypeStatement": "Midface retrusion", "dateAssigned": "2023-01-16T15:57:10.000-06:00", "objectId": "HGNC:10771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000709", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153344593" }, "publicationId": "PMID:31553412" }, "phenotypeStatement": "Psychosis", "dateAssigned": "2022-08-30T10:31:32.000-05:00", "objectId": "HGNC:2160" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006749", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260340" }, "publicationId": "PMID:17119055" }, "phenotypeStatement": "Malignant gastrointestinal tract tumors", "dateAssigned": "2022-10-03T17:50:30.000-05:00", "objectId": "HGNC:3438" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260339" }, "publicationId": "PMID:27340861" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2022-10-03T17:32:43.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11064921" }, "publicationId": "PMID:19020799" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2022-10-18T15:49:30.000-05:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260339" }, "publicationId": "PMID:27340861" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2022-10-03T17:25:34.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000248", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882445" }, "publicationId": "PMID:25655089" }, "phenotypeStatement": "Brachycephaly", "dateAssigned": "2023-01-18T11:48:03.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002553", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882445" }, "publicationId": "PMID:25655089" }, "phenotypeStatement": "Highly arched eyebrow", "dateAssigned": "2023-01-18T11:48:03.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000527", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882445" }, "publicationId": "PMID:25655089" }, "phenotypeStatement": "Long eyelashes", "dateAssigned": "2023-01-18T11:48:03.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000455", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882445" }, "publicationId": "PMID:25655089" }, "phenotypeStatement": "Broad nasal tip", "dateAssigned": "2023-01-18T11:48:03.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000219", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882445" }, "publicationId": "PMID:25655089" }, "phenotypeStatement": "Thin upper lip vermilion", "dateAssigned": "2023-01-18T11:48:03.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200055", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882445" }, "publicationId": "PMID:25655089" }, "phenotypeStatement": "Small hand", "dateAssigned": "2023-01-18T11:48:04.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009623", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882445" }, "publicationId": "PMID:25655089" }, "phenotypeStatement": "Proximal placement of thumb", "dateAssigned": "2023-01-18T11:48:04.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010034", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882445" }, "publicationId": "PMID:25655089" }, "phenotypeStatement": "Short 1st metacarpal", "dateAssigned": "2023-01-18T11:48:04.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030961", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451653" }, "publicationId": "PMID:20617341" }, "phenotypeStatement": "Microspherophakia", "dateAssigned": "2023-03-08T18:37:07.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663379" }, "publicationId": "PMID:28464518" }, "phenotypeStatement": "Proportionate short stature", "dateAssigned": "2022-11-15T11:24:52.000-06:00", "objectId": "HGNC:17075" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001290", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663379" }, "publicationId": "PMID:28464518" }, "phenotypeStatement": "Generalized hypotonia", "dateAssigned": "2022-11-15T11:24:52.000-06:00", "objectId": "HGNC:17075" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663379" }, "publicationId": "PMID:28464518" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2022-11-15T11:24:52.000-06:00", "objectId": "HGNC:17075" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003549", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663379" }, "publicationId": "PMID:28464518" }, "phenotypeStatement": "Abnormality of connective tissue", "dateAssigned": "2022-11-15T11:24:52.000-06:00", "objectId": "HGNC:17075" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040276", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323313" }, "publicationId": "PMID:22121102" }, "phenotypeStatement": "Adenocarcinoma of the colon", "dateAssigned": "2022-08-12T14:06:57.000-05:00", "objectId": "HGNC:11368" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005922", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11086621" }, "publicationId": "PMID:25424714" }, "phenotypeStatement": "Abnormal hand morphology", "dateAssigned": "2022-11-15T16:10:10.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11086621" }, "publicationId": "PMID:25424714" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "2022-11-15T16:10:10.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11086621" }, "publicationId": "PMID:25424714" }, "phenotypeStatement": "Short stature", "dateAssigned": "2022-11-15T16:10:10.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11086621" }, "publicationId": "PMID:25424714" }, "phenotypeStatement": "Atypical behavior", "dateAssigned": "2022-11-15T16:10:10.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011334", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663379" }, "publicationId": "PMID:28464518" }, "phenotypeStatement": "Facial shape deformation", "dateAssigned": "2022-11-15T11:24:52.000-06:00", "objectId": "HGNC:17075" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012019", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451653" }, "publicationId": "PMID:20617341" }, "phenotypeStatement": "Lens luxation", "dateAssigned": "2023-03-08T18:42:57.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040276", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323313" }, "publicationId": "PMID:22121102" }, "phenotypeStatement": "Adenocarcinoma of the colon", "dateAssigned": "2022-08-12T13:38:12.000-05:00", "objectId": "HGNC:11364" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151347647" }, "publicationId": "PMID:30086056" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-08-12T15:57:34.000-05:00", "objectId": "HGNC:9175" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323313" }, "publicationId": "PMID:22121102" }, "phenotypeStatement": "Neoplasm of the rectum", "dateAssigned": "2022-08-12T13:41:08.000-05:00", "objectId": "HGNC:11364" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001710", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:243065149" }, "publicationId": "PMID:23076529" }, "phenotypeStatement": "Conotruncal defect", "dateAssigned": "2023-04-12T14:03:22.000-05:00", "objectId": "HGNC:4214" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004808", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260286" }, "publicationId": "PMID:31186809" }, "phenotypeStatement": "Acute myeloid leukemia", "dateAssigned": "2022-09-26T14:40:50.000-05:00", "objectId": "HGNC:18145" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000485", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451371" }, "publicationId": "PMID:22025892" }, "phenotypeStatement": "Megalocornea", "dateAssigned": "2023-03-07T13:15:54.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323313" }, "publicationId": "PMID:22121102" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2022-08-18T14:58:25.000-05:00", "objectId": "HGNC:11367" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:14402039" }, "publicationId": "PMID:26968103" }, "phenotypeStatement": "Neoplasm of the liver", "dateAssigned": "2021-12-09T21:00:13.000-06:00", "objectId": "HGNC:903" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155791566" }, "publicationId": "PMID:25824905" }, "phenotypeStatement": "Aplasia cutis congenita", "dateAssigned": "2022-12-20T14:57:33.000-06:00", "objectId": "HGNC:19189" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153344543" }, "publicationId": "PMID:29516665" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-08-24T11:42:39.000-05:00", "objectId": "HGNC:7128" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323313" }, "publicationId": "PMID:22121102" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2022-08-18T14:57:47.000-05:00", "objectId": "HGNC:11362" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323313" }, "publicationId": "PMID:22121102" }, "phenotypeStatement": "Neoplasm of the rectum", "dateAssigned": "2022-08-12T14:05:25.000-05:00", "objectId": "HGNC:11365" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012075", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959601" }, "publicationId": "PMID:10412185" }, "phenotypeStatement": "Personality disorder", "dateAssigned": "2024-02-22T13:13:08.000-06:00", "objectId": "HGNC:4070" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155900764" }, "publicationId": "PMID:36653413" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2023-02-13T15:28:31.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155900764" }, "publicationId": "PMID:36653413" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2023-02-13T15:28:31.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040276", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323313" }, "publicationId": "PMID:22121102" }, "phenotypeStatement": "Adenocarcinoma of the colon", "dateAssigned": "2022-08-12T13:49:45.000-05:00", "objectId": "HGNC:11366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200341", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597830180" }, "publicationId": "PMID:17608938" }, "phenotypeStatement": "Addictive cannabis use", "dateAssigned": "2025-03-11T13:08:38.000-05:00", "objectId": "HGNC:1954" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959401" }, "publicationId": "PMID:21633377" }, "phenotypeStatement": "Abnormal systemic blood pressure", "dateAssigned": "2024-01-24T12:41:11.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100546", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959402" }, "publicationId": "PMID:28704403" }, "phenotypeStatement": "Carotid artery stenosis", "dateAssigned": "2024-01-24T12:59:44.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032092", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11536909" }, "publicationId": "PMID:26656983" }, "phenotypeStatement": "Left ventricular outflow tract obstruction", "dateAssigned": "2023-04-12T17:09:48.000-05:00", "objectId": "HGNC:4214" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597830180" }, "publicationId": "PMID:17608938" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2025-03-11T13:09:58.000-05:00", "objectId": "HGNC:1954" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156431212" }, "publicationId": "PMID:19656777" }, "phenotypeStatement": "Primary congenital glaucoma", "dateAssigned": "2023-03-06T16:23:03.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004808", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151232292" }, "publicationId": "PMID:22343920" }, "phenotypeStatement": "Acute myeloid leukemia", "dateAssigned": "2022-01-14T11:08:38.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002863", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151232291" }, "publicationId": "PMID:28942350" }, "phenotypeStatement": "Myelodysplasia", "dateAssigned": "2022-01-14T09:00:20.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001972", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151232291" }, "publicationId": "PMID:28942350" }, "phenotypeStatement": "Macrocytic anemia", "dateAssigned": "2022-01-14T09:00:20.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007378", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361145" }, "publicationId": "PMID:31140864" }, "phenotypeStatement": "Neoplasm of the gastrointestinal tract", "dateAssigned": "2022-02-24T16:24:48.000-06:00", "objectId": "HGNC:18505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040276", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323313" }, "publicationId": "PMID:22121102" }, "phenotypeStatement": "Adenocarcinoma of the colon", "dateAssigned": "2022-08-12T13:24:18.000-05:00", "objectId": "HGNC:11362" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323305" }, "publicationId": "PMID:25407497" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-08-12T11:46:24.000-05:00", "objectId": "HGNC:1919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008404", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260285" }, "publicationId": "PMID:34037314" }, "phenotypeStatement": "Nail dystrophy", "dateAssigned": "2022-09-26T12:20:05.000-05:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000692", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260285" }, "publicationId": "PMID:34037314" }, "phenotypeStatement": "Tooth malposition", "dateAssigned": "2022-09-26T12:20:05.000-05:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005817", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260285" }, "publicationId": "PMID:34037314" }, "phenotypeStatement": "Postaxial polysyndactyly of foot", "dateAssigned": "2022-09-26T12:20:05.000-05:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062210" }, "publicationId": "PMID:21387466" }, "phenotypeStatement": "Ectodermal dysplasia", "dateAssigned": "2022-10-18T14:37:14.000-05:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11062210" }, "publicationId": "PMID:21387466" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2022-10-18T14:37:14.000-05:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000271", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155582217" }, "publicationId": "PMID:26300940" }, "phenotypeStatement": "Abnormality of the face", "dateAssigned": "2022-10-13T14:20:33.000-05:00", "objectId": "HGNC:7133" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001738", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882462" }, "publicationId": "PMID:19006206" }, "phenotypeStatement": "Exocrine pancreatic insufficiency", "dateAssigned": "2023-01-23T14:04:03.000-06:00", "objectId": "HGNC:16808" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000430", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882462" }, "publicationId": "PMID:19006206" }, "phenotypeStatement": "Underdeveloped nasal alae", "dateAssigned": "2023-01-23T14:04:03.000-06:00", "objectId": "HGNC:16808" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000851", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882462" }, "publicationId": "PMID:19006206" }, "phenotypeStatement": "Congenital hypothyroidism", "dateAssigned": "2023-01-23T14:04:03.000-06:00", "objectId": "HGNC:16808" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882462" }, "publicationId": "PMID:19006206" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2023-01-23T14:04:03.000-06:00", "objectId": "HGNC:16808" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401959373" }, "publicationId": "PMID:25415204" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2024-01-22T17:07:26.000-06:00", "objectId": "HGNC:3023" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631284" }, "publicationId": "PMID:21901792" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2022-10-31T14:05:35.000-05:00", "objectId": "HGNC:30650" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000528", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631284" }, "publicationId": "PMID:21901792" }, "phenotypeStatement": "Anophthalmia", "dateAssigned": "2022-10-31T14:05:35.000-05:00", "objectId": "HGNC:30650" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000589", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631284" }, "publicationId": "PMID:21901792" }, "phenotypeStatement": "Coloboma", "dateAssigned": "2022-10-31T14:05:35.000-05:00", "objectId": "HGNC:30650" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Language impairment", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009088", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Speech articulation difficulties", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156431215" }, "publicationId": "PMID:32165823" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2023-03-07T12:45:33.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030359", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361148" }, "publicationId": "PMID:23397474" }, "phenotypeStatement": "Squamous cell lung carcinoma", "dateAssigned": "2022-02-24T17:05:36.000-06:00", "objectId": "HGNC:1964" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976387" }, "publicationId": "PMID:16505227" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2024-02-21T16:20:29.000-06:00", "objectId": "HGNC:9642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001533", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Slender build", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002307", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Drooling", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000478", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Abnormality of the eye", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010674", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Abnormal curvature of the vertebral column", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031013", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Ankylosis", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032998", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641253" }, "publicationId": "PMID:18820179" }, "phenotypeStatement": "Increased cystatin C level", "dateAssigned": "2022-11-07T13:45:02.000-06:00", "objectId": "HGNC:9967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155791662" }, "publicationId": "PMID:24470203" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2023-01-04T10:09:42.000-06:00", "objectId": "HGNC:30858" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155791662" }, "publicationId": "PMID:24470203" }, "phenotypeStatement": "Malar flattening", "dateAssigned": "2023-01-04T10:09:42.000-06:00", "objectId": "HGNC:30858" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000377", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155791662" }, "publicationId": "PMID:24470203" }, "phenotypeStatement": "Abnormal pinna morphology", "dateAssigned": "2023-01-04T10:09:42.000-06:00", "objectId": "HGNC:30858" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155791662" }, "publicationId": "PMID:24470203" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2023-01-04T10:09:42.000-06:00", "objectId": "HGNC:30858" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560855" }, "publicationId": "PMID:27545676" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2022-11-08T10:04:47.000-06:00", "objectId": "HGNC:11183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002538", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560855" }, "publicationId": "PMID:27545676" }, "phenotypeStatement": "Abnormal cerebral cortex morphology", "dateAssigned": "2022-11-08T10:04:47.000-06:00", "objectId": "HGNC:11183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000528", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631287" }, "publicationId": "PMID:17273977" }, "phenotypeStatement": "Anophthalmia", "dateAssigned": "2022-10-31T14:28:18.000-05:00", "objectId": "HGNC:30650" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000276", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Long face", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000582", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Upslanted palpebral fissure", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Malar flattening", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000527", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071098" }, "publicationId": "PMID:23918763" }, "phenotypeStatement": "Long eyelashes", "dateAssigned": "2023-01-11T13:21:24.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007392", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071098" }, "publicationId": "PMID:23918763" }, "phenotypeStatement": "Excessive wrinkled skin", "dateAssigned": "2023-01-11T13:21:24.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071098" }, "publicationId": "PMID:23918763" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2023-01-11T13:21:24.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000290", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071098" }, "publicationId": "PMID:23918763" }, "phenotypeStatement": "Abnormal forehead morphology", "dateAssigned": "2023-01-11T13:21:24.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323316" }, "publicationId": "PMID:28924235" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-10-04T14:05:31.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323316" }, "publicationId": "PMID:28924235" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-10-04T14:05:31.000-05:00", "objectId": "HGNC:3434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323316" }, "publicationId": "PMID:28924235" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-10-04T14:05:31.000-05:00", "objectId": "HGNC:3437" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006749", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260348" }, "publicationId": "PMID:29151331" }, "phenotypeStatement": "Malignant gastrointestinal tract tumors", "dateAssigned": "2022-10-04T15:31:19.000-05:00", "objectId": "HGNC:3438" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008070", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071098" }, "publicationId": "PMID:23918763" }, "phenotypeStatement": "Sparse hair", "dateAssigned": "2023-01-11T13:21:24.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071098" }, "publicationId": "PMID:23918763" }, "phenotypeStatement": "Short stature", "dateAssigned": "2023-01-11T13:21:24.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071098" }, "publicationId": "PMID:23918763" }, "phenotypeStatement": "Macrocephaly", "dateAssigned": "2023-01-11T13:21:24.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000953", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071098" }, "publicationId": "PMID:23918763" }, "phenotypeStatement": "Hyperpigmentation of the skin", "dateAssigned": "2023-01-11T13:21:24.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071098" }, "publicationId": "PMID:23918763" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2023-01-11T13:21:24.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071098" }, "publicationId": "PMID:23918763" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2023-01-11T13:21:24.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001748", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155630603" }, "publicationId": "PMID:30664273" }, "phenotypeStatement": "Polysplenia", "dateAssigned": "2022-10-25T10:59:35.000-05:00", "objectId": "HGNC:18053" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002566", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155630603" }, "publicationId": "PMID:30664273" }, "phenotypeStatement": "Intestinal malrotation", "dateAssigned": "2022-10-25T10:59:35.000-05:00", "objectId": "HGNC:18053" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011620", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155630603" }, "publicationId": "PMID:30664273" }, "phenotypeStatement": "Abnormality of abdominal situs", "dateAssigned": "2022-10-25T10:59:35.000-05:00", "objectId": "HGNC:18053" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001642", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068376" }, "publicationId": "PMID:21784453" }, "phenotypeStatement": "Pulmonic stenosis", "dateAssigned": "2022-10-27T16:09:49.000-05:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071098" }, "publicationId": "PMID:23918763" }, "phenotypeStatement": "Widened subarachnoid space", "dateAssigned": "2023-01-11T13:21:24.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004719", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155791686" }, "publicationId": "PMID:19177160" }, "phenotypeStatement": "Hyperechogenic kidneys", "dateAssigned": "2023-01-06T12:11:21.000-06:00", "objectId": "HGNC:17870" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000953", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11071178" }, "publicationId": "PMID:20882035" }, "phenotypeStatement": "Hyperpigmentation of the skin", "dateAssigned": "2023-01-11T12:17:39.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000460", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Narrow nose", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000194", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Open mouth", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000678", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058183" }, "publicationId": "PMID:26571461" }, "phenotypeStatement": "Dental crowding", "dateAssigned": "2023-01-20T15:08:39.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882461" }, "publicationId": "PMID:27550220" }, "phenotypeStatement": "Relative macrocephaly", "dateAssigned": "2023-01-20T15:46:40.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001631", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882461" }, "publicationId": "PMID:27550220" }, "phenotypeStatement": "Atrial septal defect", "dateAssigned": "2023-01-20T15:46:40.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882461" }, "publicationId": "PMID:27550220" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2023-01-20T15:46:40.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882461" }, "publicationId": "PMID:27550220" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2023-01-20T15:46:40.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976551" }, "publicationId": "PMID:20554694" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-29T16:32:08.000-06:00", "objectId": "HGNC:241" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401976551" }, "publicationId": "PMID:20554694" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2024-02-29T16:42:49.000-06:00", "objectId": "HGNC:7955" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851058" }, "publicationId": "PMID:30226566" }, "phenotypeStatement": "Abnormal glomerular filtration rate", "dateAssigned": "2023-10-27T11:05:41.000-05:00", "objectId": "HGNC:2213" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850598" }, "publicationId": "PMID:27281273" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-10-24T13:10:05.000-05:00", "objectId": "HGNC:12711" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001162", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260290" }, "publicationId": "PMID:29229899" }, "phenotypeStatement": "Postaxial hand polydactyly", "dateAssigned": "2022-09-26T16:03:51.000-05:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260290" }, "publicationId": "PMID:29229899" }, "phenotypeStatement": "Short stature", "dateAssigned": "2022-09-26T16:03:51.000-05:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001241", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260290" }, "publicationId": "PMID:29229899" }, "phenotypeStatement": "Capitate-hamate fusion", "dateAssigned": "2022-09-26T16:03:51.000-05:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008404", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260290" }, "publicationId": "PMID:29229899" }, "phenotypeStatement": "Nail dystrophy", "dateAssigned": "2022-09-26T16:03:51.000-05:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000190", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260290" }, "publicationId": "PMID:29229899" }, "phenotypeStatement": "Abnormal oral frenulum morphology", "dateAssigned": "2022-09-26T16:03:51.000-05:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Paranoia", "dateAssigned": "2023-10-31T14:01:39.000-05:00", "objectId": "HGNC:12440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851911" }, "publicationId": "PMID:24473444" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2023-10-31T12:22:50.000-05:00", "objectId": "HGNC:21072" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-10-31T14:09:45.000-05:00", "objectId": "HGNC:21420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011001", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628374360" }, "publicationId": "PMID:18488137" }, "phenotypeStatement": "Increased bone mineral density", "dateAssigned": "2025-10-07T16:40:09.000-05:00", "objectId": "HGNC:25835" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850598" }, "publicationId": "PMID:27281273" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-10-24T13:11:11.000-05:00", "objectId": "HGNC:6294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628359293" }, "publicationId": "PMID:24673601" }, "phenotypeStatement": "Reduced forced expiratory volume in one second", "dateAssigned": "2025-09-30T13:29:23.000-05:00", "objectId": "HGNC:18713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032336", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:629146883" }, "publicationId": "PMID:18682521" }, "phenotypeStatement": "Increased circulating specific IgE antibody concentration", "dateAssigned": "2026-01-06T14:33:19.000-06:00", "objectId": "HGNC:15632" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851915" }, "publicationId": "PMID:19255376" }, "phenotypeStatement": "Paranoia", "dateAssigned": "2023-10-31T13:10:44.000-05:00", "objectId": "HGNC:21072" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2023-10-31T13:35:59.000-05:00", "objectId": "HGNC:21072" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001629", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631302" }, "publicationId": "PMID:22801995" }, "phenotypeStatement": "Ventricular septal defect", "dateAssigned": "2022-10-31T17:30:35.000-05:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001629", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882444" }, "publicationId": "PMID:25380965" }, "phenotypeStatement": "Ventricular septal defect", "dateAssigned": "2023-01-17T17:34:41.000-06:00", "objectId": "HGNC:32940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030828", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:629006596" }, "publicationId": "PMID:34919286" }, "phenotypeStatement": "Wheezing", "dateAssigned": "2025-11-06T09:37:55.000-06:00", "objectId": "HGNC:16038" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030828", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:629118409" }, "publicationId": "PMID:37750685" }, "phenotypeStatement": "Wheezing", "dateAssigned": "2025-12-11T10:48:02.000-06:00", "objectId": "HGNC:26308" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361212" }, "publicationId": "PMID:26735576" }, "phenotypeStatement": "Neoplasm of the rectum", "dateAssigned": "2022-03-01T14:17:45.000-06:00", "objectId": "HGNC:7652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665197" }, "publicationId": "PMID:22046421" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-03-15T15:04:59.000-05:00", "objectId": "HGNC:17294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010882", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11568370" }, "publicationId": "PMID:19064609" }, "phenotypeStatement": "Pulmonary valve atresia", "dateAssigned": "2022-09-20T21:19:03.000-05:00", "objectId": "HGNC:7865" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631311" }, "publicationId": "PMID:29021403" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2022-11-01T14:44:27.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631311" }, "publicationId": "PMID:29021403" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2022-11-01T14:44:27.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401794581" }, "publicationId": "PMID:25179879" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-08-31T21:06:50.000-05:00", "objectId": "HGNC:12744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11521055" }, "publicationId": "PMID:26241700" }, "phenotypeStatement": "Abnormality of vitamin D metabolism", "dateAssigned": "2022-02-27T19:10:15.000-06:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012718", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11521055" }, "publicationId": "PMID:26241700" }, "phenotypeStatement": "Abnormal gastrointestinal tract morphology", "dateAssigned": "2022-02-27T19:10:40.000-06:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665175" }, "publicationId": "PMID:27669215" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-03-15T12:43:24.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Paranoia", "dateAssigned": "2023-10-31T13:35:27.000-05:00", "objectId": "HGNC:21072" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665177" }, "publicationId": "PMID:28811712" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2022-03-15T12:48:57.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11527838" }, "publicationId": "PMID:26071483" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-03-15T13:10:43.000-05:00", "objectId": "HGNC:26837" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665183" }, "publicationId": "PMID:31243121" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-03-15T13:15:11.000-05:00", "objectId": "HGNC:26837" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631311" }, "publicationId": "PMID:29021403" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "2022-11-01T14:44:27.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020097", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665182" }, "publicationId": "PMID:30062471" }, "phenotypeStatement": "Infection due to encapsulated bacteria", "dateAssigned": "2022-03-15T13:13:03.000-05:00", "objectId": "HGNC:26837" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665489" }, "publicationId": "PMID:20576521" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2022-03-24T08:28:52.000-05:00", "objectId": "HGNC:4555" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665338" }, "publicationId": "PMID:31740231" }, "phenotypeStatement": "Neoplasm of the rectum", "dateAssigned": "2022-03-22T09:26:14.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012440", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361215" }, "publicationId": "PMID:27864998" }, "phenotypeStatement": "Abnormal biliary tract morphology", "dateAssigned": "2022-03-01T12:10:47.000-06:00", "objectId": "HGNC:18505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002037", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361225" }, "publicationId": "PMID:29416670" }, "phenotypeStatement": "Inflammation of the large intestine", "dateAssigned": "2022-03-01T13:51:03.000-06:00", "objectId": "HGNC:18505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032222", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552863" }, "publicationId": "PMID:24512911" }, "phenotypeStatement": "Serrated intestinal polyps", "dateAssigned": "2022-03-01T13:59:40.000-06:00", "objectId": "HGNC:18505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660337" }, "publicationId": "PMID:26629180" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2022-03-03T12:05:03.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030359", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660345" }, "publicationId": "PMID:22585858" }, "phenotypeStatement": "Squamous cell lung carcinoma", "dateAssigned": "2022-03-03T16:46:50.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011024", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361224" }, "publicationId": "PMID:25344691" }, "phenotypeStatement": "Abnormality of the gastrointestinal tract", "dateAssigned": "2022-03-01T13:15:32.000-06:00", "objectId": "HGNC:18505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361224" }, "publicationId": "PMID:25344691" }, "phenotypeStatement": "Abnormal endometrium morphology", "dateAssigned": "2022-03-01T13:15:32.000-06:00", "objectId": "HGNC:18505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030357", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660339" }, "publicationId": "PMID:27531263" }, "phenotypeStatement": "Small cell lung carcinoma", "dateAssigned": "2022-03-03T13:31:06.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665340" }, "publicationId": "PMID:31264381" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-03-22T09:29:04.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007378", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361228" }, "publicationId": "PMID:33230914" }, "phenotypeStatement": "Neoplasm of the gastrointestinal tract", "dateAssigned": "2022-03-01T14:07:47.000-06:00", "objectId": "HGNC:18505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361212" }, "publicationId": "PMID:26735576" }, "phenotypeStatement": "Neoplasm of the rectum", "dateAssigned": "2022-03-01T14:36:20.000-06:00", "objectId": "HGNC:12833" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006254", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660355" }, "publicationId": "PMID:32401173" }, "phenotypeStatement": "Elevated circulating alpha-fetoprotein concentration", "dateAssigned": "2022-03-07T12:29:48.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665172" }, "publicationId": "PMID:31802707" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-03-15T12:33:43.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361212" }, "publicationId": "PMID:26735576" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2022-03-01T12:03:56.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100684", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361290" }, "publicationId": "PMID:26035306" }, "phenotypeStatement": "Salivary gland neoplasm", "dateAssigned": "2022-03-02T15:10:23.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665179" }, "publicationId": "PMID:28009432" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-03-15T12:52:21.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665175" }, "publicationId": "PMID:27669215" }, "phenotypeStatement": "Abnormality of vitamin D metabolism", "dateAssigned": "2022-03-15T12:44:54.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100684", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361290" }, "publicationId": "PMID:26035306" }, "phenotypeStatement": "Salivary gland neoplasm", "dateAssigned": "2022-03-02T15:25:00.000-06:00", "objectId": "HGNC:12831" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031495", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361226" }, "publicationId": "PMID:31231124" }, "phenotypeStatement": "Mucinous neoplasm", "dateAssigned": "2022-03-01T13:53:03.000-06:00", "objectId": "HGNC:18505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100279", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665177" }, "publicationId": "PMID:28811712" }, "phenotypeStatement": "Ulcerative colitis", "dateAssigned": "2022-03-15T12:50:06.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030255", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665177" }, "publicationId": "PMID:28811712" }, "phenotypeStatement": "Large intestinal polyposis", "dateAssigned": "2022-03-15T12:47:59.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030357", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660337" }, "publicationId": "PMID:26629180" }, "phenotypeStatement": "Small cell lung carcinoma", "dateAssigned": "2022-03-03T12:01:06.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031495", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361215" }, "publicationId": "PMID:27864998" }, "phenotypeStatement": "Mucinous neoplasm", "dateAssigned": "2022-03-01T12:12:05.000-06:00", "objectId": "HGNC:18505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007378", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361209" }, "publicationId": "PMID:29756208" }, "phenotypeStatement": "Neoplasm of the gastrointestinal tract", "dateAssigned": "2022-03-01T08:37:44.000-06:00", "objectId": "HGNC:18505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361212" }, "publicationId": "PMID:26735576" }, "phenotypeStatement": "Neoplasm of the large intestine", "dateAssigned": "2022-03-01T12:49:21.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361212" }, "publicationId": "PMID:26735576" }, "phenotypeStatement": "Neoplasm of the rectum", "dateAssigned": "2022-03-01T13:31:00.000-06:00", "objectId": "HGNC:7230" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002896", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361199" }, "publicationId": "PMID:24729511" }, "phenotypeStatement": "Neoplasm of the liver", "dateAssigned": "2022-02-28T15:14:34.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011118", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660355" }, "publicationId": "PMID:32401173" }, "phenotypeStatement": "Abnormality of tumor necrosis factor secretion", "dateAssigned": "2022-03-07T12:49:02.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660355" }, "publicationId": "PMID:32401173" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-03-07T12:23:49.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030153", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151361227" }, "publicationId": "PMID:22561520" }, "phenotypeStatement": "Cholangiocarcinoma", "dateAssigned": "2022-03-01T14:04:17.000-06:00", "objectId": "HGNC:18505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003281", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660355" }, "publicationId": "PMID:32401173" }, "phenotypeStatement": "Increased circulating ferritin concentration", "dateAssigned": "2022-03-07T12:38:00.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100526", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660503" }, "publicationId": "PMID:22382497" }, "phenotypeStatement": "Neoplasm of the lung", "dateAssigned": "2022-03-07T16:07:42.000-06:00", "objectId": "HGNC:9824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552767" }, "publicationId": "PMID:26727527" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2023-12-27T08:49:39.000-06:00", "objectId": "HGNC:4070" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552767" }, "publicationId": "PMID:26727527" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2023-12-27T08:49:39.000-06:00", "objectId": "HGNC:4070" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940104" }, "publicationId": "PMID:19763258" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2023-12-27T19:12:45.000-06:00", "objectId": "HGNC:4507" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665512" }, "publicationId": "PMID:30114685" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2022-03-29T14:53:49.000-05:00", "objectId": "HGNC:4555" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155230827" }, "publicationId": "PMID:27861856" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-09-22T11:21:59.000-05:00", "objectId": "HGNC:6847" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033350", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628359291" }, "publicationId": "PMID:29384926" }, "phenotypeStatement": "Elevated forced expiratory volume in one second", "dateAssigned": "2025-09-26T13:28:29.000-05:00", "objectId": "HGNC:18713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940102" }, "publicationId": "PMID:29968397" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-27T13:45:55.000-06:00", "objectId": "HGNC:4070" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151665174" }, "publicationId": "PMID:19706847" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2022-03-15T12:38:17.000-05:00", "objectId": "HGNC:2602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033350", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628359292" }, "publicationId": "PMID:27133712" }, "phenotypeStatement": "Elevated forced expiratory volume in one second", "dateAssigned": "2025-09-26T15:25:10.000-05:00", "objectId": "HGNC:18713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463944" }, "publicationId": "PMID:29465008" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2025-08-01T14:38:07.000-05:00", "objectId": "HGNC:7958" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2023-10-31T14:29:13.000-05:00", "objectId": "HGNC:1358" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2023-10-31T14:34:40.000-05:00", "objectId": "HGNC:6356" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-10-31T14:10:52.000-05:00", "objectId": "HGNC:11596" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:617302488" }, "publicationId": "PMID:21978546" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2025-08-01T13:44:45.000-05:00", "objectId": "HGNC:2356" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628359034" }, "publicationId": "PMID:17989887" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2025-09-19T15:06:53.000-05:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:3000062", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900133" }, "publicationId": "PMID:31200082" }, "phenotypeStatement": "Abnormal internal carotid artery morphology", "dateAssigned": "2023-11-07T17:13:42.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900133" }, "publicationId": "PMID:31200082" }, "phenotypeStatement": "Atherosclerosis", "dateAssigned": "2023-11-07T17:13:42.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641254" }, "publicationId": "PMID:26971886" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2022-11-07T13:58:20.000-06:00", "objectId": "HGNC:11153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030282", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641254" }, "publicationId": "PMID:26971886" }, "phenotypeStatement": "Posterior rib gap", "dateAssigned": "2022-11-07T13:58:20.000-06:00", "objectId": "HGNC:11153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011297", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631311" }, "publicationId": "PMID:29021403" }, "phenotypeStatement": "Abnormal digit morphology", "dateAssigned": "2022-11-01T14:44:27.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005344", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900168" }, "publicationId": "PMID:35653516" }, "phenotypeStatement": "Abnormal carotid artery morphology", "dateAssigned": "2023-11-08T14:27:23.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031784", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900168" }, "publicationId": "PMID:35653516" }, "phenotypeStatement": "Abnormal ascending aorta morphology", "dateAssigned": "2023-11-08T14:25:14.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031784", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851083" }, "publicationId": "PMID:34968759" }, "phenotypeStatement": "Abnormal ascending aorta morphology", "dateAssigned": "2023-10-30T15:22:22.000-05:00", "objectId": "HGNC:2213" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:625778023" }, "publicationId": "PMID:16358219" }, "phenotypeStatement": "Chronic pulmonary obstruction", "dateAssigned": "2025-08-08T14:37:21.000-05:00", "objectId": "HGNC:8951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2023-10-31T13:40:25.000-05:00", "objectId": "HGNC:18531" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:625781352" }, "publicationId": "PMID:21436250" }, "phenotypeStatement": "Asthma", "dateAssigned": "2025-08-11T13:54:55.000-05:00", "objectId": "HGNC:8951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030828", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:629116670" }, "publicationId": "PMID:29314338" }, "phenotypeStatement": "Wheezing", "dateAssigned": "2025-12-09T15:10:49.000-06:00", "objectId": "HGNC:26308" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11063911" }, "publicationId": "PMID:22866751" }, "phenotypeStatement": "Reduced forced expiratory volume in one second", "dateAssigned": "2025-09-09T14:28:16.000-05:00", "objectId": "HGNC:33" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032341", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11063911" }, "publicationId": "PMID:22866751" }, "phenotypeStatement": "Reduced forced vital capacity", "dateAssigned": "2025-09-09T14:28:16.000-05:00", "objectId": "HGNC:33" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626168249" }, "publicationId": "PMID:29330013" }, "phenotypeStatement": "Asthma", "dateAssigned": "2025-08-28T13:05:36.000-05:00", "objectId": "HGNC:23690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626167418" }, "publicationId": "PMID:31466081" }, "phenotypeStatement": "Mortality/Aging", "dateAssigned": "2025-08-26T10:37:22.000-05:00", "objectId": "HGNC:619" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156430336" }, "publicationId": "PMID:33541284" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-02-27T23:21:53.000-06:00", "objectId": "HGNC:4713" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040216", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11526318" }, "publicationId": "PMID:26827797" }, "phenotypeStatement": "Hypoinsulinemia", "dateAssigned": "2025-10-07T11:44:49.000-05:00", "objectId": "HGNC:16693" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025179", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11072505" }, "publicationId": "PMID:22068586" }, "phenotypeStatement": "Ground-glass opacification", "dateAssigned": "2025-09-04T10:51:26.000-05:00", "objectId": "HGNC:33" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033586", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11072505" }, "publicationId": "PMID:22068586" }, "phenotypeStatement": "Cellular non-specific interstitial pneumonia", "dateAssigned": "2025-09-04T10:51:26.000-05:00", "objectId": "HGNC:33" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626419672" }, "publicationId": "PMID:22732088" }, "phenotypeStatement": "Asthma", "dateAssigned": "2025-09-04T15:18:13.000-05:00", "objectId": "HGNC:23690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000485", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451372" }, "publicationId": "PMID:28384041" }, "phenotypeStatement": "Megalocornea", "dateAssigned": "2023-03-07T13:34:46.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007700", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:156451372" }, "publicationId": "PMID:28384041" }, "phenotypeStatement": "Ocular anterior segment dysgenesis", "dateAssigned": "2023-03-07T13:34:46.000-06:00", "objectId": "HGNC:6715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:625778022" }, "publicationId": "PMID:17446335" }, "phenotypeStatement": "Chronic pulmonary obstruction", "dateAssigned": "2025-08-07T15:24:26.000-05:00", "objectId": "HGNC:8951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851919" }, "publicationId": "PMID:30777881" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-10-31T14:06:11.000-05:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-10-31T14:12:52.000-05:00", "objectId": "HGNC:8781" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030828", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:629006596" }, "publicationId": "PMID:34919286" }, "phenotypeStatement": "Wheezing", "dateAssigned": "2025-11-06T09:37:55.000-06:00", "objectId": "HGNC:13178" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030828", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:629006596" }, "publicationId": "PMID:34919286" }, "phenotypeStatement": "Wheezing", "dateAssigned": "2025-11-06T09:37:55.000-06:00", "objectId": "HGNC:23690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626467894" }, "publicationId": "PMID:36034974" }, "phenotypeStatement": "Asthma", "dateAssigned": "2025-09-09T09:54:24.000-05:00", "objectId": "HGNC:17451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626467894" }, "publicationId": "PMID:36034974" }, "phenotypeStatement": "Allergic rhinitis", "dateAssigned": "2025-09-09T09:54:24.000-05:00", "objectId": "HGNC:17451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000131", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851920" }, "publicationId": "PMID:23818951" }, "phenotypeStatement": "Uterine leiomyoma", "dateAssigned": "2023-10-31T15:28:54.000-05:00", "objectId": "HGNC:6125" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000131", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851920" }, "publicationId": "PMID:23818951" }, "phenotypeStatement": "Uterine leiomyoma", "dateAssigned": "2023-10-31T15:28:55.000-05:00", "objectId": "HGNC:2202" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2023-10-31T14:30:34.000-05:00", "objectId": "HGNC:24154" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850601" }, "publicationId": "PMID:23534771" }, "phenotypeStatement": "Glioma", "dateAssigned": "2023-10-24T14:50:07.000-05:00", "objectId": "HGNC:12830" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2023-10-31T14:16:33.000-05:00", "objectId": "HGNC:30287" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2023-10-31T14:33:13.000-05:00", "objectId": "HGNC:20267" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2023-10-31T14:48:16.000-05:00", "objectId": "HGNC:29944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:625781363" }, "publicationId": "PMID:31215134" }, "phenotypeStatement": "Chronic pulmonary obstruction", "dateAssigned": "2025-08-12T14:49:32.000-05:00", "objectId": "HGNC:8951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000131", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851920" }, "publicationId": "PMID:23818951" }, "phenotypeStatement": "Uterine leiomyoma", "dateAssigned": "2023-10-31T15:28:55.000-05:00", "objectId": "HGNC:2213" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030358", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323316" }, "publicationId": "PMID:28924235" }, "phenotypeStatement": "Non-small cell lung carcinoma", "dateAssigned": "2022-10-04T14:07:26.000-05:00", "objectId": "HGNC:3438" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011018", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260357" }, "publicationId": "PMID:19626602" }, "phenotypeStatement": "Abnormality of the cell cycle", "dateAssigned": "2022-10-05T12:19:21.000-05:00", "objectId": "HGNC:3438" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000131", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851920" }, "publicationId": "PMID:23818951" }, "phenotypeStatement": "Uterine leiomyoma", "dateAssigned": "2023-10-31T15:28:55.000-05:00", "objectId": "HGNC:2203" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032101", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260358" }, "publicationId": "PMID:23118991" }, "phenotypeStatement": "Unusual infection", "dateAssigned": "2022-10-05T13:00:04.000-05:00", "objectId": "HGNC:3437" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900724" }, "publicationId": "PMID:34906413" }, "phenotypeStatement": "Obesity", "dateAssigned": "2023-11-16T14:40:47.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882443" }, "publicationId": "PMID:25319568" }, "phenotypeStatement": "Atrial fibrillation", "dateAssigned": "2023-01-17T17:16:18.000-06:00", "objectId": "HGNC:32940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033122", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882443" }, "publicationId": "PMID:25319568" }, "phenotypeStatement": "Absent P wave", "dateAssigned": "2023-01-17T17:16:18.000-06:00", "objectId": "HGNC:32940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031888", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11052994" }, "publicationId": "PMID:25738804" }, "phenotypeStatement": "Abnormal HDL cholesterol concentration", "dateAssigned": "2023-11-16T16:57:53.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11052994" }, "publicationId": "PMID:25738804" }, "phenotypeStatement": "Abnormal blood glucose concentration", "dateAssigned": "2023-11-16T16:57:53.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001717", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11058683" }, "publicationId": "PMID:23394302" }, "phenotypeStatement": "Coronary artery calcification", "dateAssigned": "2023-10-31T17:07:56.000-05:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100605", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260337" }, "publicationId": "PMID:19444904" }, "phenotypeStatement": "Neoplasm of the larynx", "dateAssigned": "2022-10-03T16:53:42.000-05:00", "objectId": "HGNC:3437" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11052994" }, "publicationId": "PMID:25738804" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-11-16T16:57:53.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900688" }, "publicationId": "PMID:27893421" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-11-15T16:28:21.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005313", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900690" }, "publicationId": "PMID:32475314" }, "phenotypeStatement": "Arterial fibromuscular dysplasia", "dateAssigned": "2023-11-15T17:24:21.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001639", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097409" }, "publicationId": "PMID:26757980" }, "phenotypeStatement": "Hypertrophic cardiomyopathy", "dateAssigned": "2022-10-28T11:34:07.000-05:00", "objectId": "HGNC:10023" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097409" }, "publicationId": "PMID:26757980" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2022-10-28T11:34:07.000-05:00", "objectId": "HGNC:10023" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001328", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11097409" }, "publicationId": "PMID:26757980" }, "phenotypeStatement": "Specific learning disability", "dateAssigned": "2022-10-28T11:34:07.000-05:00", "objectId": "HGNC:10023" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631312" }, "publicationId": "PMID:28807008" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2022-11-01T15:53:14.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631312" }, "publicationId": "PMID:28807008" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2022-11-01T15:53:14.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000219", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631312" }, "publicationId": "PMID:28807008" }, "phenotypeStatement": "Thin upper lip vermilion", "dateAssigned": "2022-11-01T15:53:14.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031703", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631312" }, "publicationId": "PMID:28807008" }, "phenotypeStatement": "Abnormal ear morphology", "dateAssigned": "2022-11-01T15:53:14.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631312" }, "publicationId": "PMID:28807008" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2022-11-01T15:53:14.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001531", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11086309" }, "publicationId": "PMID:26714497" }, "phenotypeStatement": "Failure to thrive in infancy", "dateAssigned": "2022-10-28T15:25:34.000-05:00", "objectId": "HGNC:10023" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000465", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11086309" }, "publicationId": "PMID:26714497" }, "phenotypeStatement": "Webbed neck", "dateAssigned": "2022-10-28T15:25:34.000-05:00", "objectId": "HGNC:10023" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001642", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11086309" }, "publicationId": "PMID:26714497" }, "phenotypeStatement": "Pulmonic stenosis", "dateAssigned": "2022-10-28T15:25:34.000-05:00", "objectId": "HGNC:10023" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11086309" }, "publicationId": "PMID:26714497" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2022-10-28T15:25:34.000-05:00", "objectId": "HGNC:10023" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11086309" }, "publicationId": "PMID:26714497" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2022-10-28T15:25:34.000-05:00", "objectId": "HGNC:10023" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001631", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11063543" }, "publicationId": "PMID:17143285" }, "phenotypeStatement": "Atrial septal defect", "dateAssigned": "2022-10-26T11:57:56.000-05:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631312" }, "publicationId": "PMID:28807008" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2022-11-01T15:53:14.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002011", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631312" }, "publicationId": "PMID:28807008" }, "phenotypeStatement": "Morphological central nervous system abnormality", "dateAssigned": "2022-11-01T15:53:14.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641229" }, "publicationId": "PMID:29393965" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2022-11-02T11:02:01.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641229" }, "publicationId": "PMID:29393965" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2022-11-02T11:02:01.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641229" }, "publicationId": "PMID:29393965" }, "phenotypeStatement": "Atypical behavior", "dateAssigned": "2022-11-02T11:02:01.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000829", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641234" }, "publicationId": "PMID:32110744" }, "phenotypeStatement": "Hypoparathyroidism", "dateAssigned": "2022-11-02T13:19:18.000-05:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002901", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641234" }, "publicationId": "PMID:32110744" }, "phenotypeStatement": "Hypocalcemia", "dateAssigned": "2022-11-02T13:19:18.000-05:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641234" }, "publicationId": "PMID:32110744" }, "phenotypeStatement": "Seizure", "dateAssigned": "2022-11-02T13:19:18.000-05:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008619", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641234" }, "publicationId": "PMID:32110744" }, "phenotypeStatement": "Bilateral sensorineural hearing impairment", "dateAssigned": "2022-11-02T13:19:18.000-05:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631312" }, "publicationId": "PMID:28807008" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2022-11-01T15:53:14.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631309" }, "publicationId": "PMID:29222009" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2022-11-01T14:42:01.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002000", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631312" }, "publicationId": "PMID:28807008" }, "phenotypeStatement": "Short columella", "dateAssigned": "2022-11-01T15:53:14.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000431", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631312" }, "publicationId": "PMID:28807008" }, "phenotypeStatement": "Wide nasal bridge", "dateAssigned": "2022-11-01T15:53:14.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007057", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155630626" }, "publicationId": "PMID:19568997" }, "phenotypeStatement": "Poor hand-eye coordination", "dateAssigned": "2022-10-26T10:24:37.000-05:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155630626" }, "publicationId": "PMID:19568997" }, "phenotypeStatement": "Abnormal stereopsis", "dateAssigned": "2022-10-26T10:24:37.000-05:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001642", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11063543" }, "publicationId": "PMID:17143285" }, "phenotypeStatement": "Pulmonic stenosis", "dateAssigned": "2022-10-26T11:57:56.000-05:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006335", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1600504" }, "publicationId": "PMID:15004558" }, "phenotypeStatement": "Persistence of primary teeth", "dateAssigned": "2022-10-28T13:43:25.000-05:00", "objectId": "HGNC:20893" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002194", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155631312" }, "publicationId": "PMID:28807008" }, "phenotypeStatement": "Delayed gross motor development", "dateAssigned": "2022-11-01T15:53:14.000-05:00", "objectId": "HGNC:1733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641254" }, "publicationId": "PMID:26971886" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2022-11-07T13:58:20.000-06:00", "objectId": "HGNC:11153" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006702", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900725" }, "publicationId": "PMID:33319763" }, "phenotypeStatement": "Coronary artery dissection", "dateAssigned": "2023-11-16T15:31:08.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900724" }, "publicationId": "PMID:34906413" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2023-11-16T14:40:17.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882445" }, "publicationId": "PMID:25655089" }, "phenotypeStatement": "Short foot", "dateAssigned": "2023-01-18T11:48:04.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900687" }, "publicationId": "PMID:29784573" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-11-15T16:06:33.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626467893" }, "publicationId": "PMID:32795586" }, "phenotypeStatement": "Asthma", "dateAssigned": "2025-09-09T09:27:09.000-05:00", "objectId": "HGNC:23690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626419672" }, "publicationId": "PMID:22732088" }, "phenotypeStatement": "Asthma", "dateAssigned": "2025-09-04T15:19:54.000-05:00", "objectId": "HGNC:40034" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626170613" }, "publicationId": "PMID:28052796" }, "phenotypeStatement": "Reduced forced expiratory volume in one second", "dateAssigned": "2025-09-02T13:54:03.000-05:00", "objectId": "HGNC:23690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11052493" }, "publicationId": "PMID:25838425" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-11-15T17:11:58.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008872", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882445" }, "publicationId": "PMID:25655089" }, "phenotypeStatement": "Feeding difficulties in infancy", "dateAssigned": "2023-01-18T11:48:04.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005479", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626167423" }, "publicationId": "PMID:28275397" }, "phenotypeStatement": "Decreased circulating IgE concentration", "dateAssigned": "2025-08-26T15:01:20.000-05:00", "objectId": "HGNC:6719" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031891", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626167423" }, "publicationId": "PMID:28275397" }, "phenotypeStatement": "Decreased total eosinophil count", "dateAssigned": "2025-08-26T15:01:20.000-05:00", "objectId": "HGNC:6719" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626419672" }, "publicationId": "PMID:22732088" }, "phenotypeStatement": "Asthma", "dateAssigned": "2025-09-04T15:18:42.000-05:00", "objectId": "HGNC:16038" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030783", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:1626649" }, "publicationId": "PMID:15992611" }, "phenotypeStatement": "Increased circulating interleukin 6 concentration", "dateAssigned": "2026-01-20T14:40:52.000-06:00", "objectId": "HGNC:5233" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:625781364" }, "publicationId": "PMID:21611750" }, "phenotypeStatement": "Reduced FEV1/FVC ratio", "dateAssigned": "2025-08-12T14:55:07.000-05:00", "objectId": "HGNC:8951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030828", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:629122712" }, "publicationId": "PMID:23886569" }, "phenotypeStatement": "Wheezing", "dateAssigned": "2025-12-16T16:11:44.000-06:00", "objectId": "HGNC:11973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11056926" }, "publicationId": "PMID:26086777" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-11-15T16:45:18.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628374612" }, "publicationId": "PMID:35300924" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2025-10-09T17:12:53.000-05:00", "objectId": "HGNC:649" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628374612" }, "publicationId": "PMID:35300924" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2025-10-09T17:12:53.000-05:00", "objectId": "HGNC:649" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628374612" }, "publicationId": "PMID:35300924" }, "phenotypeStatement": "Short stature", "dateAssigned": "2025-10-09T17:12:53.000-05:00", "objectId": "HGNC:649" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001642", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155226881" }, "publicationId": "PMID:25423076" }, "phenotypeStatement": "Pulmonic stenosis", "dateAssigned": "2022-11-16T13:25:13.000-06:00", "objectId": "HGNC:33983" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:625781364" }, "publicationId": "PMID:21611750" }, "phenotypeStatement": "Chronic pulmonary obstruction", "dateAssigned": "2025-08-12T14:53:55.000-05:00", "objectId": "HGNC:8951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663346" }, "publicationId": "PMID:29596833" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2022-11-09T11:43:17.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2023-10-31T14:32:08.000-05:00", "objectId": "HGNC:15998" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2023-10-31T14:47:10.000-05:00", "objectId": "HGNC:29349" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2023-10-31T14:49:48.000-05:00", "objectId": "HGNC:17025" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000131", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851920" }, "publicationId": "PMID:23818951" }, "phenotypeStatement": "Uterine leiomyoma", "dateAssigned": "2023-10-31T15:29:39.000-05:00", "objectId": "HGNC:4637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000131", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851920" }, "publicationId": "PMID:23818951" }, "phenotypeStatement": "Uterine leiomyoma", "dateAssigned": "2023-10-31T15:29:39.000-05:00", "objectId": "HGNC:14311" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000131", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851920" }, "publicationId": "PMID:23818951" }, "phenotypeStatement": "Uterine leiomyoma", "dateAssigned": "2023-10-31T15:29:39.000-05:00", "objectId": "HGNC:2674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004349", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628374360" }, "publicationId": "PMID:18488137" }, "phenotypeStatement": "Reduced bone mineral density", "dateAssigned": "2025-10-07T16:41:08.000-05:00", "objectId": "HGNC:22207" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900294" }, "publicationId": "PMID:27792790" }, "phenotypeStatement": "Increased carotid artery intimal medial thickness", "dateAssigned": "2023-11-15T15:32:55.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940120" }, "publicationId": "PMID:31150143" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-28T20:53:14.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001875", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323316" }, "publicationId": "PMID:28924235" }, "phenotypeStatement": "Decreased total neutrophil count", "dateAssigned": "2022-10-04T13:59:52.000-05:00", "objectId": "HGNC:3438" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001638", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882460" }, "publicationId": "PMID:31883306" }, "phenotypeStatement": "Cardiomyopathy", "dateAssigned": "2023-01-19T15:53:00.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882445" }, "publicationId": "PMID:25655089" }, "phenotypeStatement": "Hirsutism", "dateAssigned": "2023-01-18T11:48:04.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626167418" }, "publicationId": "PMID:31466081" }, "phenotypeStatement": "Mortality/Aging", "dateAssigned": "2025-08-26T10:37:56.000-05:00", "objectId": "HGNC:10664" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000478", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882460" }, "publicationId": "PMID:31883306" }, "phenotypeStatement": "Abnormality of the eye", "dateAssigned": "2023-01-19T15:53:00.000-06:00", "objectId": "HGNC:7871" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001880", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626167424" }, "publicationId": "PMID:21307858" }, "phenotypeStatement": "Increased total eosinophil count", "dateAssigned": "2025-08-26T15:53:46.000-05:00", "objectId": "HGNC:9591" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900685" }, "publicationId": "PMID:23042660" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-11-15T15:51:15.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004384", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882448" }, "publicationId": "PMID:15649947" }, "phenotypeStatement": "Type I truncus arteriosus", "dateAssigned": "2023-01-18T16:28:01.000-06:00", "objectId": "HGNC:32940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:625781365" }, "publicationId": "PMID:19949669" }, "phenotypeStatement": "Chronic pulmonary obstruction", "dateAssigned": "2025-08-12T15:19:04.000-05:00", "objectId": "HGNC:8951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11552767" }, "publicationId": "PMID:26727527" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-27T08:55:36.000-06:00", "objectId": "HGNC:11042" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940105" }, "publicationId": "PMID:28118741" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-27T19:18:40.000-06:00", "objectId": "HGNC:4507" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940110" }, "publicationId": "PMID:33577997" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2023-12-27T20:08:13.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002354", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940110" }, "publicationId": "PMID:33577997" }, "phenotypeStatement": "Memory impairment", "dateAssigned": "2023-12-27T20:21:10.000-06:00", "objectId": "HGNC:277" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940114" }, "publicationId": "PMID:10395222" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-28T15:55:38.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005313", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401900294" }, "publicationId": "PMID:27792790" }, "phenotypeStatement": "Arterial fibromuscular dysplasia", "dateAssigned": "2023-11-16T14:31:15.000-06:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155226881" }, "publicationId": "PMID:25423076" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2022-11-16T13:27:22.000-06:00", "objectId": "HGNC:33983" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001880", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626167424" }, "publicationId": "PMID:21307858" }, "phenotypeStatement": "Increased total eosinophil count", "dateAssigned": "2025-08-26T15:51:21.000-05:00", "objectId": "HGNC:6719" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040276", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323313" }, "publicationId": "PMID:22121102" }, "phenotypeStatement": "Adenocarcinoma of the colon", "dateAssigned": "2022-08-12T13:48:19.000-05:00", "objectId": "HGNC:11367" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:153323313" }, "publicationId": "PMID:22121102" }, "phenotypeStatement": "Neoplasm of the rectum", "dateAssigned": "2022-08-12T14:08:47.000-05:00", "objectId": "HGNC:11368" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002097", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:625781355" }, "publicationId": "PMID:21067581" }, "phenotypeStatement": "Emphysema", "dateAssigned": "2025-08-12T14:03:30.000-05:00", "objectId": "HGNC:8951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641252" }, "publicationId": "PMID:31587868" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2022-11-07T13:32:45.000-06:00", "objectId": "HGNC:29873" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641252" }, "publicationId": "PMID:31587868" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2022-11-07T13:32:45.000-06:00", "objectId": "HGNC:29873" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002828", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641252" }, "publicationId": "PMID:31587868" }, "phenotypeStatement": "Multiple joint contractures", "dateAssigned": "2022-11-07T13:32:45.000-06:00", "objectId": "HGNC:29873" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001519", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641252" }, "publicationId": "PMID:31587868" }, "phenotypeStatement": "Disproportionate tall stature", "dateAssigned": "2022-11-07T13:32:45.000-06:00", "objectId": "HGNC:29873" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641252" }, "publicationId": "PMID:31587868" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2022-11-07T13:32:45.000-06:00", "objectId": "HGNC:29873" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641252" }, "publicationId": "PMID:31587868" }, "phenotypeStatement": "Arachnodactyly", "dateAssigned": "2022-11-07T13:32:45.000-06:00", "objectId": "HGNC:29873" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030078", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:151660359" }, "publicationId": "PMID:29667179" }, "phenotypeStatement": "Lung adenocarcinoma", "dateAssigned": "2022-08-12T12:31:29.000-05:00", "objectId": "HGNC:1919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100605", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260337" }, "publicationId": "PMID:19444904" }, "phenotypeStatement": "Neoplasm of the larynx", "dateAssigned": "2022-10-03T16:54:38.000-05:00", "objectId": "HGNC:3438" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001644", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260314" }, "publicationId": "PMID:34815954" }, "phenotypeStatement": "Dilated cardiomyopathy", "dateAssigned": "2022-09-29T20:02:55.000-05:00", "objectId": "HGNC:1779" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0500015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260314" }, "publicationId": "PMID:34815954" }, "phenotypeStatement": "Abnormal cardiac test", "dateAssigned": "2022-09-29T20:05:13.000-05:00", "objectId": "HGNC:1779" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560664" }, "publicationId": "PMID:27545680" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2022-11-08T09:39:56.000-06:00", "objectId": "HGNC:11183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560664" }, "publicationId": "PMID:27545680" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2022-11-08T09:39:56.000-06:00", "objectId": "HGNC:11183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560664" }, "publicationId": "PMID:27545680" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2022-11-08T09:39:56.000-06:00", "objectId": "HGNC:11183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641255" }, "publicationId": "PMID:24637876" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2022-11-07T14:05:56.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000581", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641255" }, "publicationId": "PMID:24637876" }, "phenotypeStatement": "Blepharophimosis", "dateAssigned": "2022-11-07T14:05:56.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641255" }, "publicationId": "PMID:24637876" }, "phenotypeStatement": "Low-set ears", "dateAssigned": "2022-11-07T14:05:56.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000460", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641255" }, "publicationId": "PMID:24637876" }, "phenotypeStatement": "Narrow nose", "dateAssigned": "2022-11-07T14:05:56.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641255" }, "publicationId": "PMID:24637876" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2022-11-07T14:05:56.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000220", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641255" }, "publicationId": "PMID:24637876" }, "phenotypeStatement": "Velopharyngeal insufficiency", "dateAssigned": "2022-11-07T14:05:56.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641255" }, "publicationId": "PMID:24637876" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2022-11-07T14:05:56.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155641262" }, "publicationId": "PMID:31005274" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2022-11-07T16:07:52.000-06:00", "objectId": "HGNC:11183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560664" }, "publicationId": "PMID:27545680" }, "phenotypeStatement": "Abnormal facial shape", "dateAssigned": "2022-11-08T09:39:56.000-06:00", "objectId": "HGNC:11183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033127", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560664" }, "publicationId": "PMID:27545680" }, "phenotypeStatement": "Abnormality of the musculoskeletal system", "dateAssigned": "2022-11-08T09:39:56.000-06:00", "objectId": "HGNC:11183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002538", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11560664" }, "publicationId": "PMID:27545680" }, "phenotypeStatement": "Abnormal cerebral cortex morphology", "dateAssigned": "2022-11-08T09:39:56.000-06:00", "objectId": "HGNC:11183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032336", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:632517844" }, "publicationId": "PMID:28076799" }, "phenotypeStatement": "Increased circulating specific IgE antibody concentration", "dateAssigned": "2026-01-29T12:15:54.000-06:00", "objectId": "HGNC:240" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6001236", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11056873" }, "publicationId": "PMID:24347560" }, "phenotypeStatement": "Elevated fraction exhaled nitric oxide", "dateAssigned": "2026-01-29T10:00:56.000-06:00", "objectId": "HGNC:28404" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882589" }, "publicationId": "PMID:27034249" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2023-01-31T15:06:31.000-06:00", "objectId": "HGNC:11598" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001710", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663347" }, "publicationId": "PMID:22185286" }, "phenotypeStatement": "Conotruncal defect", "dateAssigned": "2022-11-09T12:05:27.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Ptosis", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004279", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Short palm", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Short stature", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000411", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Protruding ear", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Anteverted nares", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001572", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Macrodontia", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000294", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Low anterior hairline", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Triangular face", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000637", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11068938" }, "publicationId": "PMID:21782149" }, "phenotypeStatement": "Long palpebral fissure", "dateAssigned": "2022-11-17T13:01:50.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001631", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882600" }, "publicationId": "PMID:26675025" }, "phenotypeStatement": "Atrial septal defect", "dateAssigned": "2023-01-31T21:25:40.000-06:00", "objectId": "HGNC:11598" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000718", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597805902" }, "publicationId": "PMID:22008269" }, "phenotypeStatement": "Aggressive behavior", "dateAssigned": "2025-02-18T14:42:32.000-06:00", "objectId": "HGNC:8529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006749", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260348" }, "publicationId": "PMID:29151331" }, "phenotypeStatement": "Malignant gastrointestinal tract tumors", "dateAssigned": "2022-10-04T15:36:01.000-05:00", "objectId": "HGNC:3433" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155882596" }, "publicationId": "PMID:25487630" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2023-01-31T16:34:54.000-06:00", "objectId": "HGNC:11598" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:632517870" }, "publicationId": "PMID:22723975" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2026-01-30T17:27:28.000-06:00", "objectId": "HGNC:17967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260339" }, "publicationId": "PMID:27340861" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2022-10-03T17:29:16.000-05:00", "objectId": "HGNC:3437" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155260339" }, "publicationId": "PMID:27340861" }, "phenotypeStatement": "Stomach cancer", "dateAssigned": "2022-10-03T17:36:34.000-05:00", "objectId": "HGNC:3438" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001533", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Slender build", "dateAssigned": "2022-11-18T12:08:13.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2022-11-18T12:08:13.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Malar flattening", "dateAssigned": "2022-11-18T12:08:13.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000278", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Retrognathia", "dateAssigned": "2022-11-18T12:08:13.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000494", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Downslanted palpebral fissures", "dateAssigned": "2022-11-18T12:08:13.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000411", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Protruding ear", "dateAssigned": "2022-11-18T12:08:13.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000958", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Dry skin", "dateAssigned": "2022-11-18T12:08:13.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010648", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Dermal translucency", "dateAssigned": "2022-11-18T12:08:13.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000248", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Brachycephaly", "dateAssigned": "2022-11-18T12:08:13.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Broad forehead", "dateAssigned": "2022-11-18T12:08:13.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004425", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:155663488" }, "publicationId": "PMID:20004762" }, "phenotypeStatement": "Flat forehead", "dateAssigned": "2022-11-18T12:08:13.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850601" }, "publicationId": "PMID:23534771" }, "phenotypeStatement": "Glioma", "dateAssigned": "2023-10-25T10:35:50.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002858", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850601" }, "publicationId": "PMID:23534771" }, "phenotypeStatement": "Meningioma", "dateAssigned": "2023-10-25T10:44:05.000-05:00", "objectId": "HGNC:3437" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009733", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850601" }, "publicationId": "PMID:23534771" }, "phenotypeStatement": "Glioma", "dateAssigned": "2023-10-25T10:44:05.000-05:00", "objectId": "HGNC:3437" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850782" }, "publicationId": "PMID:24315498" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-10-25T13:44:44.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850598" }, "publicationId": "PMID:27281273" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-10-24T13:07:01.000-05:00", "objectId": "HGNC:4565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850599" }, "publicationId": "PMID:28821857" }, "phenotypeStatement": "Type II diabetes mellitus", "dateAssigned": "2023-10-24T13:49:21.000-05:00", "objectId": "HGNC:42435" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000488", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850599" }, "publicationId": "PMID:28821857" }, "phenotypeStatement": "Retinopathy", "dateAssigned": "2023-10-24T13:49:21.000-05:00", "objectId": "HGNC:42435" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000718", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597805932" }, "publicationId": "PMID:26250573" }, "phenotypeStatement": "Aggressive behavior", "dateAssigned": "2025-02-19T13:23:53.000-06:00", "objectId": "HGNC:8529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002895", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850780" }, "publicationId": "PMID:19286843" }, "phenotypeStatement": "Papillary thyroid carcinoma", "dateAssigned": "2023-10-25T12:48:43.000-05:00", "objectId": "HGNC:11998" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Prominent nasolabial fold", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011354", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Generalized abnormality of skin", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012534", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Dysesthesia", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003198", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Myopathy", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001182", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Tapered finger", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006184", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Decreased palmar creases", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000411", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Protruding ear", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003196", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Short nose", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001892", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Abnormal bleeding", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001519", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Disproportionate tall stature", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000766", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Abnormal sternum morphology", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031869", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Recurrent joint dislocation", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002194", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Delayed gross motor development", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000494", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Downslanted palpebral fissures", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Blue sclerae", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000219", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "Thin upper lip vermilion", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11061906" }, "publicationId": "PMID:26373698" }, "phenotypeStatement": "High palate", "dateAssigned": "2022-11-18T13:06:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850782" }, "publicationId": "PMID:24315498" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-10-25T13:51:03.000-05:00", "objectId": "HGNC:7436" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850778" }, "publicationId": "PMID:24619222" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2023-10-25T11:12:07.000-05:00", "objectId": "HGNC:587" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851907" }, "publicationId": "PMID:19198609" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-10-30T17:57:46.000-05:00", "objectId": "HGNC:20990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002895", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850780" }, "publicationId": "PMID:19286843" }, "phenotypeStatement": "Papillary thyroid carcinoma", "dateAssigned": "2023-10-25T11:38:43.000-05:00", "objectId": "HGNC:12828" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002895", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401850780" }, "publicationId": "PMID:19286843" }, "phenotypeStatement": "Papillary thyroid carcinoma", "dateAssigned": "2023-10-25T12:18:19.000-05:00", "objectId": "HGNC:795" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851915" }, "publicationId": "PMID:19255376" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2023-10-31T13:13:20.000-05:00", "objectId": "HGNC:21072" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Paranoia", "dateAssigned": "2023-10-31T14:05:18.000-05:00", "objectId": "HGNC:29885" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401851917" }, "publicationId": "PMID:18438686" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2023-10-31T14:15:01.000-05:00", "objectId": "HGNC:6528" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:617302488" }, "publicationId": "PMID:21978546" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2025-08-01T13:50:12.000-05:00", "objectId": "HGNC:3721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463944" }, "publicationId": "PMID:29465008" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2025-08-01T14:40:03.000-05:00", "objectId": "HGNC:7978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032336", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:629146883" }, "publicationId": "PMID:18682521" }, "phenotypeStatement": "Increased circulating specific IgE antibody concentration", "dateAssigned": "2026-01-06T14:34:33.000-06:00", "objectId": "HGNC:15631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:617302488" }, "publicationId": "PMID:21978546" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2025-08-01T13:49:18.000-05:00", "objectId": "HGNC:2356" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:617256322" }, "publicationId": "PMID:22939844" }, "phenotypeStatement": "Abnormal glucose homeostasis", "dateAssigned": "2025-07-24T12:33:56.000-05:00", "objectId": "HGNC:17282" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025548", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628398354" }, "publicationId": "PMID:24521637" }, "phenotypeStatement": "Increased mean corpuscular hemoglobin concentration", "dateAssigned": "2025-10-21T13:21:32.000-05:00", "objectId": "HGNC:3748" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030781", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628398354" }, "publicationId": "PMID:24521637" }, "phenotypeStatement": "Increased circulating free fatty acid level", "dateAssigned": "2025-10-21T13:21:33.000-05:00", "objectId": "HGNC:3748" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011459", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:408345192" }, "publicationId": "PMID:19164214" }, "phenotypeStatement": "Esophageal carcinoma", "dateAssigned": "2024-10-24T13:40:03.000-05:00", "objectId": "HGNC:391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:616572807" }, "publicationId": "PMID:28734942" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2025-06-19T15:31:45.000-05:00", "objectId": "HGNC:1464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940155" }, "publicationId": "PMID:16648777" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-31T19:50:37.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940100" }, "publicationId": "PMID:25191505" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-27T13:22:57.000-06:00", "objectId": "HGNC:4070" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033519", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940101" }, "publicationId": "PMID:30143926" }, "phenotypeStatement": "Addictive methamphetamine use", "dateAssigned": "2023-12-27T13:39:52.000-06:00", "objectId": "HGNC:4070" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11073926" }, "publicationId": "PMID:25491588" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-27T20:37:28.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940152" }, "publicationId": "PMID:16395295" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2023-12-31T19:18:15.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940107" }, "publicationId": "PMID:28472995" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2023-12-27T19:50:47.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940110" }, "publicationId": "PMID:33577997" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2023-12-27T20:18:53.000-06:00", "objectId": "HGNC:277" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940113" }, "publicationId": "PMID:20728009" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2023-12-28T15:32:57.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011999", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940117" }, "publicationId": "PMID:21656904" }, "phenotypeStatement": "Paranoia", "dateAssigned": "2023-12-28T16:23:43.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940118" }, "publicationId": "PMID:10698363" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-28T20:16:57.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940120" }, "publicationId": "PMID:31150143" }, "phenotypeStatement": "Addictive substance use", "dateAssigned": "2023-12-28T20:53:54.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940131" }, "publicationId": "PMID:11244495" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-29T14:03:41.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940133" }, "publicationId": "PMID:20517217" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-29T14:11:36.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940156" }, "publicationId": "PMID:24390676" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2023-12-31T20:29:13.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200334", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940156" }, "publicationId": "PMID:24390676" }, "phenotypeStatement": "Addictive gambling behavior", "dateAssigned": "2023-12-31T20:29:13.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:5200330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940148" }, "publicationId": "PMID:25035107" }, "phenotypeStatement": "Suicide behaviors", "dateAssigned": "2023-12-29T20:50:32.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401940137" }, "publicationId": "PMID:30211780" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2024-01-02T07:50:52.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:11076452" }, "publicationId": "PMID:25316661" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-07-19T11:58:11.000-05:00", "objectId": "HGNC:4814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961564" }, "publicationId": "PMID:37120436" }, "phenotypeStatement": "Elevated circulating beta-aminoisobutyric acid concentration", "dateAssigned": "2023-07-25T13:47:21.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961298" }, "publicationId": "PMID:16078323" }, "phenotypeStatement": "Scleroderma", "dateAssigned": "2023-07-20T18:52:05.000-05:00", "objectId": "HGNC:4931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012492", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329956416" }, "publicationId": "PMID:30232674" }, "phenotypeStatement": "Cerebral artery stenosis", "dateAssigned": "2023-07-19T11:29:39.000-05:00", "objectId": "HGNC:4814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329956419" }, "publicationId": "PMID:27218147" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-07-19T14:22:26.000-05:00", "objectId": "HGNC:13633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001658", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329969896" }, "publicationId": "PMID:19644414" }, "phenotypeStatement": "Myocardial infarction", "dateAssigned": "2023-07-26T14:55:24.000-05:00", "objectId": "HGNC:6293" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329969899" }, "publicationId": "PMID:24186881" }, "phenotypeStatement": "Abnormal circulating glutamine family amino acid concentration", "dateAssigned": "2023-07-26T15:21:39.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961321" }, "publicationId": "PMID:33879046" }, "phenotypeStatement": "Abnormal blood urea nitrogen concentration", "dateAssigned": "2023-07-25T10:41:02.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032480", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329970283" }, "publicationId": "PMID:21572414" }, "phenotypeStatement": "Beta-aminoisobutyric aciduria", "dateAssigned": "2023-07-27T16:06:29.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329955537" }, "publicationId": "PMID:30483314" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-07-19T09:19:33.000-05:00", "objectId": "HGNC:4814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002206", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961313" }, "publicationId": "PMID:24167351" }, "phenotypeStatement": "Pulmonary fibrosis", "dateAssigned": "2023-07-21T11:21:37.000-05:00", "objectId": "HGNC:4931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002140", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329956420" }, "publicationId": "PMID:28706949" }, "phenotypeStatement": "Ischemic stroke", "dateAssigned": "2023-07-24T09:12:04.000-05:00", "objectId": "HGNC:4814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961321" }, "publicationId": "PMID:33879046" }, "phenotypeStatement": "Elevated circulating alanine aminotransferase concentration", "dateAssigned": "2023-07-25T10:38:56.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961321" }, "publicationId": "PMID:33879046" }, "phenotypeStatement": "Abnormal blood glucose concentration", "dateAssigned": "2023-07-25T10:38:56.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961321" }, "publicationId": "PMID:33879046" }, "phenotypeStatement": "Abnormal circulating glutamine family amino acid concentration", "dateAssigned": "2023-07-25T10:42:51.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961298" }, "publicationId": "PMID:16078323" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2023-07-20T18:53:39.000-05:00", "objectId": "HGNC:4931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329970276" }, "publicationId": "PMID:19706030" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-07-28T09:21:43.000-05:00", "objectId": "HGNC:29216" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329970278" }, "publicationId": "PMID:25245031" }, "phenotypeStatement": "Abnormal circulating glutamine family amino acid concentration", "dateAssigned": "2023-07-27T15:33:10.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329970278" }, "publicationId": "PMID:25245031" }, "phenotypeStatement": "Abnormal glomerular filtration rate", "dateAssigned": "2023-07-27T15:35:56.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329970278" }, "publicationId": "PMID:25245031" }, "phenotypeStatement": "Abnormal factor VIII activity", "dateAssigned": "2023-07-27T15:35:56.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329956419" }, "publicationId": "PMID:27218147" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-07-19T13:44:42.000-05:00", "objectId": "HGNC:4814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011834", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961315" }, "publicationId": "PMID:22234791" }, "phenotypeStatement": "Moyamoya phenomenon", "dateAssigned": "2023-07-21T11:49:22.000-05:00", "objectId": "HGNC:4931" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329961318" }, "publicationId": "PMID:25620171" }, "phenotypeStatement": "Increased carotid artery intimal medial thickness", "dateAssigned": "2023-07-21T13:54:46.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004417", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329969899" }, "publicationId": "PMID:24186881" }, "phenotypeStatement": "Intermittent claudication", "dateAssigned": "2023-07-26T15:19:46.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001677", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329970276" }, "publicationId": "PMID:19706030" }, "phenotypeStatement": "Coronary artery atherosclerosis", "dateAssigned": "2023-07-27T09:40:20.000-05:00", "objectId": "HGNC:4814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010902", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329970278" }, "publicationId": "PMID:25245031" }, "phenotypeStatement": "Abnormal circulating glutamine family amino acid concentration", "dateAssigned": "2023-07-27T15:32:04.000-05:00", "objectId": "HGNC:2715" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012100", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329970278" }, "publicationId": "PMID:25245031" }, "phenotypeStatement": "Abnormal circulating creatinine concentration", "dateAssigned": "2023-07-27T15:35:13.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032436", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329970278" }, "publicationId": "PMID:25245031" }, "phenotypeStatement": "Abnormal circulating C-reactive protein concentration", "dateAssigned": "2023-07-27T15:35:13.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011898", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329970278" }, "publicationId": "PMID:25245031" }, "phenotypeStatement": "Abnormality of circulating fibrinogen", "dateAssigned": "2023-07-27T15:35:13.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012146", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:329970278" }, "publicationId": "PMID:25245031" }, "phenotypeStatement": "Abnormality of von Willebrand factor", "dateAssigned": "2023-07-27T15:35:13.000-05:00", "objectId": "HGNC:14412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003212", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628398355" }, "publicationId": "PMID:23421459" }, "phenotypeStatement": "Increased circulating IgE concentration", "dateAssigned": "2025-10-21T14:58:02.000-05:00", "objectId": "HGNC:3748" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:628398355" }, "publicationId": "PMID:23421459" }, "phenotypeStatement": "Palmar hyperlinearity", "dateAssigned": "2025-10-21T14:58:02.000-05:00", "objectId": "HGNC:3748" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001943", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401965429" }, "publicationId": "PMID:21676396" }, "phenotypeStatement": "Hypoglycemia", "dateAssigned": "2024-02-07T14:09:27.000-06:00", "objectId": "HGNC:9642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033515", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:402463942" }, "publicationId": "PMID:32757697" }, "phenotypeStatement": "Addictive opioid use", "dateAssigned": "2024-10-28T08:32:40.000-05:00", "objectId": "HGNC:4132" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033522", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:401960081" }, "publicationId": "PMID:26795600" }, "phenotypeStatement": "Cerebral cavernous malformation", "dateAssigned": "2024-01-30T12:32:43.000-06:00", "objectId": "HGNC:9603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405096435" }, "publicationId": "PMID:23290502" }, "phenotypeStatement": "Addictive nicotine use", "dateAssigned": "2024-03-19T16:28:33.000-05:00", "objectId": "HGNC:5297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033513", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405096480" }, "publicationId": "PMID:26227246" }, "phenotypeStatement": "Addictive cocaine use", "dateAssigned": "2024-03-20T11:51:22.000-05:00", "objectId": "HGNC:5297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033517", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:405096480" }, "publicationId": "PMID:26227246" }, "phenotypeStatement": "Addictive heroin use", "dateAssigned": "2024-03-20T11:47:58.000-05:00", "objectId": "HGNC:5297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597538589" }, "publicationId": "PMID:27716573" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2025-01-29T17:29:18.000-06:00", "objectId": "HGNC:8529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597538533" }, "publicationId": "PMID:28150062" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2025-01-28T14:42:43.000-06:00", "objectId": "HGNC:8529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030955", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:597538604" }, "publicationId": "PMID:37520225" }, "phenotypeStatement": "Addictive alcohol use", "dateAssigned": "2025-01-31T19:54:38.000-06:00", "objectId": "HGNC:8529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100754", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:616363036" }, "publicationId": "PMID:36836504" }, "phenotypeStatement": "Mania", "dateAssigned": "2025-05-28T10:54:30.000-05:00", "objectId": "HGNC:10940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000709", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:616363036" }, "publicationId": "PMID:36836504" }, "phenotypeStatement": "Psychosis", "dateAssigned": "2025-05-28T10:54:30.000-05:00", "objectId": "HGNC:10940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002099", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "reference" ], "id": "RGD:626467893" }, "publicationId": "PMID:32795586" }, "phenotypeStatement": "Asthma", "dateAssigned": "2025-09-09T09:28:28.000-05:00", "objectId": "HGNC:23719" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:51608" }, "publicationId": "ORPHA:51608" }, "phenotypeStatement": "Recurrent spontaneous abortion", "dateAssigned": "2024-04-25T21:15:14.000-05:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:82" }, "publicationId": "ORPHA:82" }, "phenotypeStatement": "Recurrent spontaneous abortion", "dateAssigned": "2024-04-25T21:15:14.000-05:00", "objectId": "HGNC:775" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:82" }, "publicationId": "ORPHA:82" }, "phenotypeStatement": "Pregnancy exposure", "dateAssigned": "2024-04-25T21:15:14.000-05:00", "objectId": "HGNC:775" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:159" }, "publicationId": "ORPHA:159" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:17.000-05:00", "objectId": "HGNC:1421" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:331" }, "publicationId": "ORPHA:331" }, "phenotypeStatement": "Recurrent spontaneous abortion", "dateAssigned": "2024-04-25T21:15:21.000-05:00", "objectId": "HGNC:3531" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:331" }, "publicationId": "ORPHA:331" }, "phenotypeStatement": "Recurrent spontaneous abortion", "dateAssigned": "2024-04-25T21:15:21.000-05:00", "objectId": "HGNC:3534" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:22.000-05:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:543470" }, "publicationId": "ORPHA:543470" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:22.000-05:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:22.000-05:00", "objectId": "HGNC:3808" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:22.000-05:00", "objectId": "HGNC:3816" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:13.000-05:00", "objectId": "HGNC:130" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:403" }, "publicationId": "ORPHA:403" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:19.000-05:00", "objectId": "HGNC:2591" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:403" }, "publicationId": "ORPHA:403" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:19.000-05:00", "objectId": "HGNC:2592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008072", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91" }, "publicationId": "ORPHA:91" }, "phenotypeStatement": "Maternal virilization in pregnancy", "dateAssigned": "2024-04-25T21:15:19.000-05:00", "objectId": "HGNC:2594" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:20.000-05:00", "objectId": "HGNC:2950" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:20.000-05:00", "objectId": "HGNC:2953" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:21.000-05:00", "objectId": "HGNC:3327" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613684" }, "publicationId": "MIM:613684" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:21.000-05:00", "objectId": "HGNC:3373" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:188055" }, "publicationId": "MIM:188055" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:21.000-05:00", "objectId": "HGNC:3542" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614389" }, "publicationId": "MIM:614389" }, "phenotypeStatement": "Recurrent spontaneous abortion", "dateAssigned": "2024-04-25T21:15:21.000-05:00", "objectId": "HGNC:3542" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:330" }, "publicationId": "ORPHA:330" }, "phenotypeStatement": "Recurrent spontaneous abortion", "dateAssigned": "2024-04-25T21:15:21.000-05:00", "objectId": "HGNC:3530" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609015" }, "publicationId": "MIM:609015" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:24.000-05:00", "objectId": "HGNC:4801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:163596" }, "publicationId": "ORPHA:163596" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:24.000-05:00", "objectId": "HGNC:4823" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:163596" }, "publicationId": "ORPHA:163596" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:24.000-05:00", "objectId": "HGNC:4824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244242" }, "publicationId": "ORPHA:244242" }, "phenotypeStatement": "Eclampsia", "dateAssigned": "2024-04-25T21:15:24.000-05:00", "objectId": "HGNC:4883" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244242" }, "publicationId": "ORPHA:244242" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:24.000-05:00", "objectId": "HGNC:4883" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244242" }, "publicationId": "ORPHA:244242" }, "phenotypeStatement": "Maternal hypertension", "dateAssigned": "2024-04-25T21:15:24.000-05:00", "objectId": "HGNC:4883" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:255120" }, "publicationId": "MIM:255120" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:19.000-05:00", "objectId": "HGNC:2328" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:27.000-05:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:27.000-05:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:27.000-05:00", "objectId": "HGNC:6904" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244242" }, "publicationId": "ORPHA:244242" }, "phenotypeStatement": "Eclampsia", "dateAssigned": "2024-04-25T21:15:27.000-05:00", "objectId": "HGNC:6953" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244242" }, "publicationId": "ORPHA:244242" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:27.000-05:00", "objectId": "HGNC:6953" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244242" }, "publicationId": "ORPHA:244242" }, "phenotypeStatement": "Maternal hypertension", "dateAssigned": "2024-04-25T21:15:27.000-05:00", "objectId": "HGNC:6953" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:27.000-05:00", "objectId": "HGNC:6768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011432", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:226730" }, "publicationId": "MIM:226730" }, "phenotypeStatement": "Elevated maternal circulating alpha-fetoprotein concentration", "dateAssigned": "2024-04-25T21:15:31.000-05:00", "objectId": "HGNC:9069" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008073", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:201750" }, "publicationId": "MIM:201750" }, "phenotypeStatement": "Low maternal circulating estriol concentration", "dateAssigned": "2024-04-25T21:15:32.000-05:00", "objectId": "HGNC:9208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:226307" }, "publicationId": "ORPHA:226307" }, "phenotypeStatement": "Maternal autoimmune disease", "dateAssigned": "2024-04-25T21:15:32.000-05:00", "objectId": "HGNC:9210" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79083" }, "publicationId": "ORPHA:79083" }, "phenotypeStatement": "Eclampsia", "dateAssigned": "2024-04-25T21:15:32.000-05:00", "objectId": "HGNC:9236" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604367" }, "publicationId": "MIM:604367" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:32.000-05:00", "objectId": "HGNC:9236" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:32.000-05:00", "objectId": "HGNC:9414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:226307" }, "publicationId": "ORPHA:226307" }, "phenotypeStatement": "Maternal autoimmune disease", "dateAssigned": "2024-04-25T21:15:32.000-05:00", "objectId": "HGNC:9455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011438", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199302" }, "publicationId": "ORPHA:199302" }, "phenotypeStatement": "Maternal teratogenic exposure", "dateAssigned": "2024-04-25T21:15:32.000-05:00", "objectId": "HGNC:9706" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:33.000-05:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:69063" }, "publicationId": "ORPHA:69063" }, "phenotypeStatement": "Pregnancy exposure", "dateAssigned": "2024-04-25T21:15:28.000-05:00", "objectId": "HGNC:7154" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011438", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199302" }, "publicationId": "ORPHA:199302" }, "phenotypeStatement": "Maternal teratogenic exposure", "dateAssigned": "2024-04-25T21:15:28.000-05:00", "objectId": "HGNC:7391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:29.000-05:00", "objectId": "HGNC:7569" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:29.000-05:00", "objectId": "HGNC:7590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:189800" }, "publicationId": "MIM:189800" }, "phenotypeStatement": "Eclampsia", "dateAssigned": "2024-04-25T21:15:29.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:189800" }, "publicationId": "MIM:189800" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:29.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:189800" }, "publicationId": "MIM:189800" }, "phenotypeStatement": "Maternal hypertension", "dateAssigned": "2024-04-25T21:15:29.000-05:00", "objectId": "HGNC:7876" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:261600" }, "publicationId": "MIM:261600" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:30.000-05:00", "objectId": "HGNC:8582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:51608" }, "publicationId": "ORPHA:51608" }, "phenotypeStatement": "Recurrent spontaneous abortion", "dateAssigned": "2024-04-25T21:15:30.000-05:00", "objectId": "HGNC:3356" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:69665" }, "publicationId": "ORPHA:69665" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:31.000-05:00", "objectId": "HGNC:3706" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:69665" }, "publicationId": "ORPHA:69665" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:31.000-05:00", "objectId": "HGNC:45" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:95716" }, "publicationId": "ORPHA:95716" }, "phenotypeStatement": "Maternal autoimmune disease", "dateAssigned": "2024-04-25T21:15:34.000-05:00", "objectId": "HGNC:11040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:95716" }, "publicationId": "ORPHA:95716" }, "phenotypeStatement": "Maternal autoimmune disease", "dateAssigned": "2024-04-25T21:15:36.000-05:00", "objectId": "HGNC:11764" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:36.000-05:00", "objectId": "HGNC:11768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:35.000-05:00", "objectId": "HGNC:11212" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614674" }, "publicationId": "MIM:614674" }, "phenotypeStatement": "Recurrent spontaneous abortion", "dateAssigned": "2024-04-25T21:15:25.000-05:00", "objectId": "HGNC:5286" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244242" }, "publicationId": "ORPHA:244242" }, "phenotypeStatement": "Eclampsia", "dateAssigned": "2024-04-25T21:15:25.000-05:00", "objectId": "HGNC:5394" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244242" }, "publicationId": "ORPHA:244242" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:25.000-05:00", "objectId": "HGNC:5394" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244242" }, "publicationId": "ORPHA:244242" }, "phenotypeStatement": "Maternal hypertension", "dateAssigned": "2024-04-25T21:15:25.000-05:00", "objectId": "HGNC:5394" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011438", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199302" }, "publicationId": "ORPHA:199302" }, "phenotypeStatement": "Maternal teratogenic exposure", "dateAssigned": "2024-04-25T21:15:25.000-05:00", "objectId": "HGNC:6121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011432", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:226730" }, "publicationId": "MIM:226730" }, "phenotypeStatement": "Elevated maternal circulating alpha-fetoprotein concentration", "dateAssigned": "2024-04-25T21:15:25.000-05:00", "objectId": "HGNC:6158" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1426" }, "publicationId": "ORPHA:1426" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:26.000-05:00", "objectId": "HGNC:6518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:27.000-05:00", "objectId": "HGNC:6664" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2348" }, "publicationId": "ORPHA:2348" }, "phenotypeStatement": "Eclampsia", "dateAssigned": "2024-04-25T21:15:27.000-05:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:40.000-05:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011438", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199302" }, "publicationId": "ORPHA:199302" }, "phenotypeStatement": "Maternal teratogenic exposure", "dateAssigned": "2024-04-25T21:15:40.000-05:00", "objectId": "HGNC:15979" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:69665" }, "publicationId": "ORPHA:69665" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:40.000-05:00", "objectId": "HGNC:42" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:40.000-05:00", "objectId": "HGNC:2942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:226307" }, "publicationId": "ORPHA:226307" }, "phenotypeStatement": "Maternal autoimmune disease", "dateAssigned": "2024-04-25T21:15:40.000-05:00", "objectId": "HGNC:4877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:51.000-05:00", "objectId": "HGNC:26090" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:50.000-05:00", "objectId": "HGNC:19368" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:50.000-05:00", "objectId": "HGNC:26013" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:50.000-05:00", "objectId": "HGNC:23700" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:36.000-05:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:43.000-05:00", "objectId": "HGNC:18576" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:57.000-05:00", "objectId": "HGNC:24245" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:95716" }, "publicationId": "ORPHA:95716" }, "phenotypeStatement": "Maternal autoimmune disease", "dateAssigned": "2024-04-25T21:15:37.000-05:00", "objectId": "HGNC:12015" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:99832" }, "publicationId": "ORPHA:99832" }, "phenotypeStatement": "Maternal autoimmune disease", "dateAssigned": "2024-04-25T21:15:37.000-05:00", "objectId": "HGNC:12299" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:90674" }, "publicationId": "ORPHA:90674" }, "phenotypeStatement": "Maternal autoimmune disease", "dateAssigned": "2024-04-25T21:15:37.000-05:00", "objectId": "HGNC:12372" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:90673" }, "publicationId": "ORPHA:90673" }, "phenotypeStatement": "Maternal autoimmune disease", "dateAssigned": "2024-04-25T21:15:37.000-05:00", "objectId": "HGNC:12373" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:356961" }, "publicationId": "ORPHA:356961" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:38.000-05:00", "objectId": "HGNC:11022" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:51.000-05:00", "objectId": "HGNC:25583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:51.000-05:00", "objectId": "HGNC:20188" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:52.000-05:00", "objectId": "HGNC:1301" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:54.000-05:00", "objectId": "HGNC:25835" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:54.000-05:00", "objectId": "HGNC:26293" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:55.000-05:00", "objectId": "HGNC:25280" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:55.000-05:00", "objectId": "HGNC:23247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:55.000-05:00", "objectId": "HGNC:21054" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:56.000-05:00", "objectId": "HGNC:28188" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:69665" }, "publicationId": "ORPHA:69665" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:15:43.000-05:00", "objectId": "HGNC:7967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:56.000-05:00", "objectId": "HGNC:29368" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:56.000-05:00", "objectId": "HGNC:12371" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:226307" }, "publicationId": "ORPHA:226307" }, "phenotypeStatement": "Maternal autoimmune disease", "dateAssigned": "2024-04-25T21:15:56.000-05:00", "objectId": "HGNC:21734" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011432", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:544503" }, "publicationId": "ORPHA:544503" }, "phenotypeStatement": "Elevated maternal circulating alpha-fetoprotein concentration", "dateAssigned": "2024-04-25T21:15:45.000-05:00", "objectId": "HGNC:10057" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:57.000-05:00", "objectId": "HGNC:26560" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:57.000-05:00", "objectId": "HGNC:25430" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:57.000-05:00", "objectId": "HGNC:28303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:58.000-05:00", "objectId": "HGNC:30539" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:58.000-05:00", "objectId": "HGNC:28570" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:58.000-05:00", "objectId": "HGNC:21493" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:47.000-05:00", "objectId": "HGNC:4881" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:47.000-05:00", "objectId": "HGNC:16725" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:48.000-05:00", "objectId": "HGNC:17209" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200067", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:270960" }, "publicationId": "MIM:270960" }, "phenotypeStatement": "Recurrent spontaneous abortion", "dateAssigned": "2024-04-25T21:15:49.000-05:00", "objectId": "HGNC:18130" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:226307" }, "publicationId": "ORPHA:226307" }, "phenotypeStatement": "Maternal autoimmune disease", "dateAssigned": "2024-04-25T21:15:39.000-05:00", "objectId": "HGNC:6595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:39.000-05:00", "objectId": "HGNC:29673" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:48.000-05:00", "objectId": "HGNC:2954" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:49.000-05:00", "objectId": "HGNC:16473" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:49.000-05:00", "objectId": "HGNC:19412" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:53.000-05:00", "objectId": "HGNC:18744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:59.000-05:00", "objectId": "HGNC:33720" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609404" }, "publicationId": "MIM:609404" }, "phenotypeStatement": "Eclampsia", "dateAssigned": "2024-04-25T21:15:59.000-05:00", "objectId": "HGNC:23508" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:59.000-05:00", "objectId": "HGNC:21057" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:59.000-05:00", "objectId": "HGNC:24846" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:16:00.000-05:00", "objectId": "HGNC:25244" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:16:00.000-05:00", "objectId": "HGNC:40050" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:16:00.000-05:00", "objectId": "HGNC:21558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:16:00.000-05:00", "objectId": "HGNC:30492" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:16:00.000-05:00", "objectId": "HGNC:30718" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:95716" }, "publicationId": "ORPHA:95716" }, "phenotypeStatement": "Maternal autoimmune disease", "dateAssigned": "2024-04-25T21:16:00.000-05:00", "objectId": "HGNC:32698" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100601", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244242" }, "publicationId": "ORPHA:244242" }, "phenotypeStatement": "Eclampsia", "dateAssigned": "2024-04-25T21:16:00.000-05:00", "objectId": "HGNC:43984" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244242" }, "publicationId": "ORPHA:244242" }, "phenotypeStatement": "Preeclampsia", "dateAssigned": "2024-04-25T21:16:00.000-05:00", "objectId": "HGNC:43984" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244242" }, "publicationId": "ORPHA:244242" }, "phenotypeStatement": "Maternal hypertension", "dateAssigned": "2024-04-25T21:16:00.000-05:00", "objectId": "HGNC:43984" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:36.000-05:00", "objectId": "HGNC:11769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002686", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pregnancy history", "dateAssigned": "2024-04-25T21:15:36.000-05:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031456", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ectopic pregnancy", "dateAssigned": "2024-04-25T21:15:39.000-05:00", "objectId": "HGNC:7853" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3587" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000012", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620911" }, "publicationId": "MIM:620911" }, "phenotypeStatement": "Urinary urgency", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000012", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36136088" }, "publicationId": "PMID:36136088" }, "phenotypeStatement": "Urinary urgency", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001332", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618317" }, "publicationId": "MIM:618317" }, "phenotypeStatement": "Dystonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:19918" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001332", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1980" }, "publicationId": "ORPHA:1980" }, "phenotypeStatement": "Dystonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:19918" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:273750" }, "publicationId": "MIM:273750" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33258289" }, "publicationId": "PMID:33258289" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000118", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:399805" }, "publicationId": "ORPHA:399805" }, "phenotypeStatement": "Phenotypic abnormality", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11245" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614816" }, "publicationId": "MIM:614816" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22772368" }, "publicationId": "PMID:22772368" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22772371" }, "publicationId": "PMID:22772371" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6000853", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:122" }, "publicationId": "ORPHA:122" }, "phenotypeStatement": "Thyroid cyst", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:27310" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618632" }, "publicationId": "MIM:618632" }, "phenotypeStatement": "Abnormal vestibular function", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13281" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29572253" }, "publicationId": "PMID:29572253" }, "phenotypeStatement": "Abnormal vestibular function", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13281" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231169" }, "publicationId": "ORPHA:231169" }, "phenotypeStatement": "Abnormal vestibular function", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13281" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000771", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:432" }, "publicationId": "ORPHA:432" }, "phenotypeStatement": "Gynecomastia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000771", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:478" }, "publicationId": "ORPHA:478" }, "phenotypeStatement": "Gynecomastia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:206900" }, "publicationId": "MIM:206900" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:10892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Distal lower limb muscle weakness", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009053", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37046037" }, "publicationId": "PMID:37046037" }, "phenotypeStatement": "Distal lower limb muscle weakness", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301900" }, "publicationId": "MIM:301900" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18145" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613489" }, "publicationId": "MIM:613489" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19494034" }, "publicationId": "PMID:19494034" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:263501" }, "publicationId": "ORPHA:263501" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:85172" }, "publicationId": "ORPHA:85172" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619718" }, "publicationId": "MIM:619718" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11623" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32620954" }, "publicationId": "PMID:32620954" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11623" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:35099" }, "publicationId": "ORPHA:35099" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11623" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301132" }, "publicationId": "MIM:301132" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38158857" }, "publicationId": "PMID:38158857" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613194" }, "publicationId": "MIM:613194" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12703" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607014" }, "publicationId": "MIM:607014" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607016" }, "publicationId": "MIM:607016" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10220555" }, "publicationId": "PMID:10220555" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7550232" }, "publicationId": "PMID:7550232" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93473" }, "publicationId": "ORPHA:93473" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612337" }, "publicationId": "MIM:612337" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:13030" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26740508" }, "publicationId": "PMID:26740508" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:13030" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10295" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001182", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620888" }, "publicationId": "MIM:620888" }, "phenotypeStatement": "Tapered finger", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001182", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38118446" }, "publicationId": "PMID:38118446" }, "phenotypeStatement": "Tapered finger", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003484", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620911" }, "publicationId": "MIM:620911" }, "phenotypeStatement": "Upper limb muscle weakness", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003484", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36136088" }, "publicationId": "PMID:36136088" }, "phenotypeStatement": "Upper limb muscle weakness", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601067" }, "publicationId": "MIM:601067" }, "phenotypeStatement": "Abnormal vestibular function", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231169" }, "publicationId": "ORPHA:231169" }, "phenotypeStatement": "Abnormal vestibular function", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:602083" }, "publicationId": "MIM:602083" }, "phenotypeStatement": "Abnormal vestibular function", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18719945" }, "publicationId": "PMID:18719945" }, "phenotypeStatement": "Abnormal vestibular function", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618885" }, "publicationId": "MIM:618885" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4124" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32293671" }, "publicationId": "PMID:32293671" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4124" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:268000" }, "publicationId": "MIM:268000" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9921" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615233" }, "publicationId": "MIM:615233" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9921" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19074801" }, "publicationId": "PMID:19074801" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9921" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:305400" }, "publicationId": "MIM:305400" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20082460" }, "publicationId": "PMID:20082460" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612813" }, "publicationId": "MIM:612813" }, "phenotypeStatement": "Relative macrocephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:319" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19110214" }, "publicationId": "PMID:19110214" }, "phenotypeStatement": "Relative macrocephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:319" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:171866" }, "publicationId": "ORPHA:171866" }, "phenotypeStatement": "Relative macrocephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:319" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010628", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98913" }, "publicationId": "ORPHA:98913" }, "phenotypeStatement": "Facial palsy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:236200" }, "publicationId": "MIM:236200" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20301697" }, "publicationId": "PMID:20301697" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:394" }, "publicationId": "ORPHA:394" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002079", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618193" }, "publicationId": "MIM:618193" }, "phenotypeStatement": "Hypoplasia of the corpus callosum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002079", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15883308" }, "publicationId": "PMID:15883308" }, "phenotypeStatement": "Hypoplasia of the corpus callosum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617349" }, "publicationId": "MIM:617349" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3808" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26854927" }, "publicationId": "PMID:26854927" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3808" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:193700" }, "publicationId": "MIM:193700" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7573" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20924721" }, "publicationId": "PMID:20924721" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7573" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28584669" }, "publicationId": "PMID:28584669" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7573" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2311" }, "publicationId": "ORPHA:2311" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29659" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pneumothorax", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:7590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1340" }, "publicationId": "ORPHA:1340" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:6407" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:144" }, "publicationId": "ORPHA:144" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:6407" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3339" }, "publicationId": "ORPHA:3339" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:6407" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:6407" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2612" }, "publicationId": "ORPHA:2612" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:6407" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:259450" }, "publicationId": "MIM:259450" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18169" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610968" }, "publicationId": "MIM:610968" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18169" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2771" }, "publicationId": "ORPHA:2771" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18169" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1149" }, "publicationId": "ORPHA:1149" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18169" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:214800" }, "publicationId": "MIM:214800" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:20626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15300250" }, "publicationId": "PMID:15300250" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:20626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612370" }, "publicationId": "MIM:612370" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:20626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18834967" }, "publicationId": "PMID:18834967" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:20626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607932" }, "publicationId": "MIM:607932" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:1071" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:828" }, "publicationId": "ORPHA:828" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:1071" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:200990" }, "publicationId": "MIM:200990" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19619433" }, "publicationId": "PMID:19619433" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614120" }, "publicationId": "MIM:614120" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21552264" }, "publicationId": "PMID:21552264" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2754" }, "publicationId": "ORPHA:2754" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2189" }, "publicationId": "ORPHA:2189" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Delayed ability to walk", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Delayed ability to walk", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3138" }, "publicationId": "ORPHA:3138" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11602" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621097" }, "publicationId": "MIM:621097" }, "phenotypeStatement": "Decreased CD4+ T cell proportion", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6119" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36662884" }, "publicationId": "PMID:36662884" }, "phenotypeStatement": "Decreased CD4+ T cell proportion", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6119" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617180" }, "publicationId": "MIM:617180" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27738187" }, "publicationId": "PMID:27738187" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30569521" }, "publicationId": "PMID:30569521" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:209900" }, "publicationId": "MIM:209900" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13210" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9039982" }, "publicationId": "PMID:9039982" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13210" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:268000" }, "publicationId": "MIM:268000" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13210" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:600151" }, "publicationId": "MIM:600151" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13210" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15258860" }, "publicationId": "PMID:15258860" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13210" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613575" }, "publicationId": "MIM:613575" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13210" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19956407" }, "publicationId": "PMID:19956407" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13210" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616738" }, "publicationId": "MIM:616738" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3498" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26581901" }, "publicationId": "PMID:26581901" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3498" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:276900" }, "publicationId": "MIM:276900" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7870171" }, "publicationId": "PMID:7870171" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:600060" }, "publicationId": "MIM:600060" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001288", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621010" }, "publicationId": "MIM:621010" }, "phenotypeStatement": "Gait disturbance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001288", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39106866" }, "publicationId": "PMID:39106866" }, "phenotypeStatement": "Gait disturbance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:201300" }, "publicationId": "MIM:201300" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:888" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610357" }, "publicationId": "MIM:610357" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:888" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620607" }, "publicationId": "MIM:620607" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:888" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21487076" }, "publicationId": "PMID:21487076" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:888" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614213" }, "publicationId": "MIM:614213" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:888" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21820098" }, "publicationId": "PMID:21820098" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:888" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002378", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:86814" }, "publicationId": "ORPHA:86814" }, "phenotypeStatement": "Hand tremor", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11969" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009881", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614219" }, "publicationId": "MIM:614219" }, "phenotypeStatement": "Aplasia of distal finger phalanx", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:19189" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009881", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21820096" }, "publicationId": "PMID:21820096" }, "phenotypeStatement": "Aplasia of distal finger phalanx", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:19189" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002527", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:171430" }, "publicationId": "ORPHA:171430" }, "phenotypeStatement": "Falls", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:30372" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:136880" }, "publicationId": "MIM:136880" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608133" }, "publicationId": "MIM:608133" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034883", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620962" }, "publicationId": "MIM:620962" }, "phenotypeStatement": "Decreased portal vein velocity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034883", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39132680" }, "publicationId": "PMID:39132680" }, "phenotypeStatement": "Decreased portal vein velocity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615828" }, "publicationId": "MIM:615828" }, "phenotypeStatement": "Frontal bossing", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14677" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24726472" }, "publicationId": "PMID:24726472" }, "phenotypeStatement": "Frontal bossing", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14677" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620985" }, "publicationId": "MIM:620985" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38702431" }, "publicationId": "PMID:38702431" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38815585" }, "publicationId": "PMID:38815585" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2554" }, "publicationId": "ORPHA:2554" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17493" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:108720" }, "publicationId": "MIM:108720" }, "phenotypeStatement": "Knee dislocation", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24624349" }, "publicationId": "PMID:24624349" }, "phenotypeStatement": "Knee dislocation", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:108721" }, "publicationId": "MIM:108721" }, "phenotypeStatement": "Knee dislocation", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:150250" }, "publicationId": "MIM:150250" }, "phenotypeStatement": "Knee dislocation", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16801345" }, "publicationId": "PMID:16801345" }, "phenotypeStatement": "Knee dislocation", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:56305" }, "publicationId": "ORPHA:56305" }, "phenotypeStatement": "Knee dislocation", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617988" }, "publicationId": "MIM:617988" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29449720" }, "publicationId": "PMID:29449720" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:714652" }, "publicationId": "ORPHA:714652" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:14270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610682" }, "publicationId": "MIM:610682" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2379" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616943" }, "publicationId": "MIM:616943" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:4651" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2554" }, "publicationId": "ORPHA:2554" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:24576" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002198", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620943" }, "publicationId": "MIM:620943" }, "phenotypeStatement": "Dilated fourth ventricle", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:30162" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002198", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30327448" }, "publicationId": "PMID:30327448" }, "phenotypeStatement": "Dilated fourth ventricle", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:30162" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617879" }, "publicationId": "MIM:617879" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:20771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29198720" }, "publicationId": "PMID:29198720" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:20771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003042", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2462" }, "publicationId": "ORPHA:2462" }, "phenotypeStatement": "Elbow dislocation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616294" }, "publicationId": "MIM:616294" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:10706" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25683121" }, "publicationId": "PMID:25683121" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:10706" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2050" }, "publicationId": "ORPHA:2050" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:10706" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1507" }, "publicationId": "ORPHA:1507" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:10257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000294", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301132" }, "publicationId": "MIM:301132" }, "phenotypeStatement": "Low anterior hairline", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000294", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38158857" }, "publicationId": "PMID:38158857" }, "phenotypeStatement": "Low anterior hairline", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:151100" }, "publicationId": "MIM:151100" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:163950" }, "publicationId": "MIM:163950" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12634870" }, "publicationId": "PMID:12634870" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620947" }, "publicationId": "MIM:620947" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23194" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37148549" }, "publicationId": "PMID:37148549" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23194" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009025", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620962" }, "publicationId": "MIM:620962" }, "phenotypeStatement": "Increased connective tissue", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009025", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39132680" }, "publicationId": "PMID:39132680" }, "phenotypeStatement": "Increased connective tissue", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:508488" }, "publicationId": "ORPHA:508488" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:17042" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:508498" }, "publicationId": "ORPHA:508498" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:17042" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3157" }, "publicationId": "ORPHA:3157" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:478" }, "publicationId": "ORPHA:478" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619345" }, "publicationId": "MIM:619345" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33252156" }, "publicationId": "PMID:33252156" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621140" }, "publicationId": "MIM:621140" }, "phenotypeStatement": "Decreased CD4+ T cell proportion", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29623" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38622837" }, "publicationId": "PMID:38622837" }, "phenotypeStatement": "Decreased CD4+ T cell proportion", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29623" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615280" }, "publicationId": "MIM:615280" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6842" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18042262" }, "publicationId": "PMID:18042262" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6842" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1340" }, "publicationId": "ORPHA:1340" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6842" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:305400" }, "publicationId": "MIM:305400" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20082460" }, "publicationId": "PMID:20082460" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:915" }, "publicationId": "ORPHA:915" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619479" }, "publicationId": "MIM:619479" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29138412" }, "publicationId": "PMID:29138412" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000275", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620987" }, "publicationId": "MIM:620987" }, "phenotypeStatement": "Narrow face", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000275", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38128568" }, "publicationId": "PMID:38128568" }, "phenotypeStatement": "Narrow face", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608776" }, "publicationId": "MIM:608776" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15148656" }, "publicationId": "PMID:15148656" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15945070" }, "publicationId": "PMID:15945070" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26453364" }, "publicationId": "PMID:26453364" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79328" }, "publicationId": "ORPHA:79328" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300055" }, "publicationId": "MIM:300055" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11007980" }, "publicationId": "PMID:11007980" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3095" }, "publicationId": "ORPHA:3095" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601386" }, "publicationId": "MIM:601386" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:815" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17850630" }, "publicationId": "PMID:17850630" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:815" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613780" }, "publicationId": "MIM:613780" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21055718" }, "publicationId": "PMID:21055718" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2796" }, "publicationId": "ORPHA:2796" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:5154" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601776" }, "publicationId": "MIM:601776" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20503305" }, "publicationId": "PMID:20503305" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615035" }, "publicationId": "MIM:615035" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23188110" }, "publicationId": "PMID:23188110" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:320375" }, "publicationId": "ORPHA:320375" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Scaling skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15656819" }, "publicationId": "PMID:15656819" }, "phenotypeStatement": "Scaling skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16670861" }, "publicationId": "PMID:16670861" }, "phenotypeStatement": "Scaling skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22377713" }, "publicationId": "PMID:22377713" }, "phenotypeStatement": "Scaling skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24506793" }, "publicationId": "PMID:24506793" }, "phenotypeStatement": "Scaling skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31450277" }, "publicationId": "PMID:31450277" }, "phenotypeStatement": "Scaling skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32767583" }, "publicationId": "PMID:32767583" }, "phenotypeStatement": "Scaling skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33452875" }, "publicationId": "PMID:33452875" }, "phenotypeStatement": "Scaling skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34138484" }, "publicationId": "PMID:34138484" }, "phenotypeStatement": "Scaling skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36165187" }, "publicationId": "PMID:36165187" }, "phenotypeStatement": "Scaling skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:40607310" }, "publicationId": "PMID:40607310" }, "phenotypeStatement": "Scaling skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000729", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Autistic behavior", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000729", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31124279" }, "publicationId": "PMID:31124279" }, "phenotypeStatement": "Autistic behavior", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000729", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Autistic behavior", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003577", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619701" }, "publicationId": "MIM:619701" }, "phenotypeStatement": "Congenital onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003577", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34800363" }, "publicationId": "PMID:34800363" }, "phenotypeStatement": "Congenital onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030680", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:314390" }, "publicationId": "MIM:314390" }, "phenotypeStatement": "Abnormal cardiovascular system morphology", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030680", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3412" }, "publicationId": "ORPHA:3412" }, "phenotypeStatement": "Abnormal cardiovascular system morphology", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615981" }, "publicationId": "MIM:615981" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20618352" }, "publicationId": "PMID:20618352" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23829372" }, "publicationId": "PMID:23829372" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26078953" }, "publicationId": "PMID:26078953" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33688495" }, "publicationId": "PMID:33688495" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616562" }, "publicationId": "MIM:616562" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25541840" }, "publicationId": "PMID:25541840" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613795" }, "publicationId": "MIM:613795" }, "phenotypeStatement": "Cataract", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29392890" }, "publicationId": "PMID:29392890" }, "phenotypeStatement": "Cataract", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000494", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615582" }, "publicationId": "MIM:615582" }, "phenotypeStatement": "Downslanted palpebral fissures", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:11769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000494", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24798638" }, "publicationId": "PMID:24798638" }, "phenotypeStatement": "Downslanted palpebral fissures", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:11769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000973", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98434" }, "publicationId": "ORPHA:98434" }, "phenotypeStatement": "Cutis laxa", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:23663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:193235" }, "publicationId": "MIM:193235" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:1482" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:264700" }, "publicationId": "MIM:264700" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9486994" }, "publicationId": "PMID:9486994" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612775" }, "publicationId": "MIM:612775" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:216" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618496" }, "publicationId": "MIM:618496" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17985" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30455415" }, "publicationId": "PMID:30455415" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17985" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003307", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Hyperlordosis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003307", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Hyperlordosis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609033" }, "publicationId": "MIM:609033" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24682" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21070897" }, "publicationId": "PMID:21070897" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24682" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199" }, "publicationId": "ORPHA:199" }, "phenotypeStatement": "Hip dislocation", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:28862" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617602" }, "publicationId": "MIM:617602" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:76" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28288113" }, "publicationId": "PMID:28288113" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:76" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:182290" }, "publicationId": "MIM:182290" }, "phenotypeStatement": "Failure to thrive", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20932317" }, "publicationId": "PMID:20932317" }, "phenotypeStatement": "Failure to thrive", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1713" }, "publicationId": "ORPHA:1713" }, "phenotypeStatement": "Failure to thrive", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617052" }, "publicationId": "MIM:617052" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:27030" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002061", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620987" }, "publicationId": "MIM:620987" }, "phenotypeStatement": "Lower limb spasticity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002061", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38128568" }, "publicationId": "PMID:38128568" }, "phenotypeStatement": "Lower limb spasticity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:139210" }, "publicationId": "MIM:139210" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22158539" }, "publicationId": "PMID:22158539" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24715504" }, "publicationId": "PMID:24715504" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2588" }, "publicationId": "ORPHA:2588" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010307", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79315" }, "publicationId": "ORPHA:79315" }, "phenotypeStatement": "Stridor", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000551", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Color vision defect", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:20202" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:306" }, "publicationId": "ORPHA:306" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6297" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:277300" }, "publicationId": "MIM:277300" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29659" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10742114" }, "publicationId": "PMID:10742114" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29659" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:152700" }, "publicationId": "MIM:152700" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9796581" }, "publicationId": "PMID:9796581" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536" }, "publicationId": "ORPHA:536" }, "phenotypeStatement": "Oral ulcer", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618000" }, "publicationId": "MIM:618000" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29606302" }, "publicationId": "PMID:29606302" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30759870" }, "publicationId": "PMID:30759870" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536532" }, "publicationId": "ORPHA:536532" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032230", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60" }, "publicationId": "ORPHA:60" }, "phenotypeStatement": "Cytoplasmic antineutrophil antibody positivity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:8941" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Delayed skeletal maturation", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:26513" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:236200" }, "publicationId": "MIM:236200" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:394" }, "publicationId": "ORPHA:394" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1980" }, "publicationId": "ORPHA:1980" }, "phenotypeStatement": "Tremor", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12827" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:606777" }, "publicationId": "MIM:606777" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11603379" }, "publicationId": "PMID:11603379" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98811" }, "publicationId": "ORPHA:98811" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620926" }, "publicationId": "MIM:620926" }, "phenotypeStatement": "Duodenitis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3766" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38701783" }, "publicationId": "PMID:38701783" }, "phenotypeStatement": "Duodenitis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3766" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612940" }, "publicationId": "MIM:612940" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21487760" }, "publicationId": "PMID:21487760" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2078" }, "publicationId": "ORPHA:2078" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614438" }, "publicationId": "MIM:614438" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22052856" }, "publicationId": "PMID:22052856" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:101046" }, "publicationId": "ORPHA:101046" }, "phenotypeStatement": "Atypical behavior", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:20619" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:180104" }, "publicationId": "MIM:180104" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10288" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:201750" }, "publicationId": "MIM:201750" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14758361" }, "publicationId": "PMID:14758361" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613571" }, "publicationId": "MIM:613571" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18559916" }, "publicationId": "PMID:18559916" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9208" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002938", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:255800" }, "publicationId": "MIM:255800" }, "phenotypeStatement": "Lumbar hyperlordosis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5273" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002938", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11941538" }, "publicationId": "PMID:11941538" }, "phenotypeStatement": "Lumbar hyperlordosis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5273" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607721" }, "publicationId": "MIM:607721" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23918763" }, "publicationId": "PMID:23918763" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15454" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008897", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:487796" }, "publicationId": "ORPHA:487796" }, "phenotypeStatement": "Postnatal growth retardation", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1736" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030680", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Abnormal cardiovascular system morphology", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25678" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:201000" }, "publicationId": "MIM:201000" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14263" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000501", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Glaucoma", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25815" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:139411" }, "publicationId": "ORPHA:139411" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10681" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621012" }, "publicationId": "MIM:621012" }, "phenotypeStatement": "Anteverted nares", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39442041" }, "publicationId": "PMID:39442041" }, "phenotypeStatement": "Anteverted nares", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610443" }, "publicationId": "MIM:610443" }, "phenotypeStatement": "Ventriculomegaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18628315" }, "publicationId": "PMID:18628315" }, "phenotypeStatement": "Ventriculomegaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:417" }, "publicationId": "ORPHA:417" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14006" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:275100" }, "publicationId": "MIM:275100" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12372" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616566" }, "publicationId": "MIM:616566" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21390" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25343988" }, "publicationId": "PMID:25343988" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21390" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003016", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612813" }, "publicationId": "MIM:612813" }, "phenotypeStatement": "Metaphyseal widening", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:319" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025576", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Abnormal inferior vena cava morphology", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12760" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000132", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98434" }, "publicationId": "ORPHA:98434" }, "phenotypeStatement": "Menorrhagia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:23663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000786", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:478" }, "publicationId": "ORPHA:478" }, "phenotypeStatement": "Primary amenorrhea", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11190" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:219200" }, "publicationId": "MIM:219200" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:139411" }, "publicationId": "ORPHA:139411" }, "phenotypeStatement": "Pulmonary infiltrates", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10681" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:266265" }, "publicationId": "MIM:266265" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:20197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24403049" }, "publicationId": "PMID:24403049" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:20197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:99843" }, "publicationId": "ORPHA:99843" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:20197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Paralysis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37046037" }, "publicationId": "PMID:37046037" }, "phenotypeStatement": "Paralysis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1340" }, "publicationId": "ORPHA:1340" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6842" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:228520" }, "publicationId": "MIM:228520" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:560" }, "publicationId": "ORPHA:560" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:250410" }, "publicationId": "MIM:250410" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10664" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28285769" }, "publicationId": "PMID:28285769" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10664" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000483", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2623" }, "publicationId": "ORPHA:2623" }, "phenotypeStatement": "Astigmatism", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6716" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614837" }, "publicationId": "MIM:614837" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4510" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14573733" }, "publicationId": "PMID:14573733" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4510" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612313" }, "publicationId": "MIM:612313" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:251019" }, "publicationId": "ORPHA:251019" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:251028" }, "publicationId": "ORPHA:251028" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614181" }, "publicationId": "MIM:614181" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6816" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21835304" }, "publicationId": "PMID:21835304" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6816" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:188400" }, "publicationId": "MIM:188400" }, "phenotypeStatement": "Posterior embryotoxon", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:567" }, "publicationId": "ORPHA:567" }, "phenotypeStatement": "Posterior embryotoxon", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:192430" }, "publicationId": "MIM:192430" }, "phenotypeStatement": "Posterior embryotoxon", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618889" }, "publicationId": "MIM:618889" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:8999" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31263216" }, "publicationId": "PMID:31263216" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:8999" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000238", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609192" }, "publicationId": "MIM:609192" }, "phenotypeStatement": "Hydrocephalus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000238", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15731757" }, "publicationId": "PMID:15731757" }, "phenotypeStatement": "Hydrocephalus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000238", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16928994" }, "publicationId": "PMID:16928994" }, "phenotypeStatement": "Hydrocephalus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000293", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Full cheeks", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000293", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31124279" }, "publicationId": "PMID:31124279" }, "phenotypeStatement": "Full cheeks", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000293", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Full cheeks", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607095" }, "publicationId": "MIM:607095" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11370632" }, "publicationId": "PMID:11370632" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:175" }, "publicationId": "ORPHA:175" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:603284" }, "publicationId": "MIM:603284" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21708" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:221061" }, "publicationId": "ORPHA:221061" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21708" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619817" }, "publicationId": "MIM:619817" }, "phenotypeStatement": "Hypoplastic dermoepidermal hemidesmosomes", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6142" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020117", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9185503" }, "publicationId": "PMID:9185503" }, "phenotypeStatement": "Hypoplastic dermoepidermal hemidesmosomes", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6142" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620537" }, "publicationId": "MIM:620537" }, "phenotypeStatement": "Status epilepticus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23647072" }, "publicationId": "PMID:23647072" }, "phenotypeStatement": "Status epilepticus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32725632" }, "publicationId": "PMID:32725632" }, "phenotypeStatement": "Status epilepticus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35874597" }, "publicationId": "PMID:35874597" }, "phenotypeStatement": "Status epilepticus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36307226" }, "publicationId": "PMID:36307226" }, "phenotypeStatement": "Status epilepticus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Status epilepticus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012120", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:231680" }, "publicationId": "MIM:231680" }, "phenotypeStatement": "Methylmalonic aciduria", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3483" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012120", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19249206" }, "publicationId": "PMID:19249206" }, "phenotypeStatement": "Methylmalonic aciduria", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3483" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616307" }, "publicationId": "MIM:616307" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610599" }, "publicationId": "MIM:610599" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:32528" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20507925" }, "publicationId": "PMID:20507925" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:32528" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:32528" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620910" }, "publicationId": "MIM:620910" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38386308" }, "publicationId": "PMID:38386308" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:600625" }, "publicationId": "MIM:600625" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1071" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19249007" }, "publicationId": "PMID:19249007" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1071" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199306" }, "publicationId": "ORPHA:199306" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1071" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:828" }, "publicationId": "ORPHA:828" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1071" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607932" }, "publicationId": "MIM:607932" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1071" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18252212" }, "publicationId": "PMID:18252212" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1071" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:312870" }, "publicationId": "MIM:312870" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17603795" }, "publicationId": "PMID:17603795" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:7" }, "publicationId": "ORPHA:7" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:24641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615583" }, "publicationId": "MIM:615583" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:17042" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27804958" }, "publicationId": "PMID:27804958" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:17042" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:508488" }, "publicationId": "ORPHA:508488" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:17042" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000118", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:399805" }, "publicationId": "ORPHA:399805" }, "phenotypeStatement": "Phenotypic abnormality", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:26993" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032438", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Platelet anisocytosis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:16257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002066", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:606777" }, "publicationId": "MIM:606777" }, "phenotypeStatement": "Gait ataxia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002066", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11603379" }, "publicationId": "PMID:11603379" }, "phenotypeStatement": "Gait ataxia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030137", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98434" }, "publicationId": "ORPHA:98434" }, "phenotypeStatement": "Prolonged bleeding following circumcision", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610443" }, "publicationId": "MIM:610443" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18628315" }, "publicationId": "PMID:18628315" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008872", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:477817" }, "publicationId": "ORPHA:477817" }, "phenotypeStatement": "Feeding difficulties in infancy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008872", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:819" }, "publicationId": "ORPHA:819" }, "phenotypeStatement": "Feeding difficulties in infancy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:312870" }, "publicationId": "MIM:312870" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25804025" }, "publicationId": "PMID:25804025" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231160" }, "publicationId": "ORPHA:231160" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618000" }, "publicationId": "MIM:618000" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30548383" }, "publicationId": "PMID:30548383" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536532" }, "publicationId": "ORPHA:536532" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:269920" }, "publicationId": "MIM:269920" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:10933" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618613" }, "publicationId": "MIM:618613" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:22219" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30120214" }, "publicationId": "PMID:30120214" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:22219" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:22219" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Bronchiectasis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:25678" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Frontal bossing", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Frontal bossing", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617180" }, "publicationId": "MIM:617180" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27738187" }, "publicationId": "PMID:27738187" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30569521" }, "publicationId": "PMID:30569521" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:102500" }, "publicationId": "MIM:102500" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7882" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21378989" }, "publicationId": "PMID:21378989" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7882" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:955" }, "publicationId": "ORPHA:955" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7882" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3303" }, "publicationId": "ORPHA:3303" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3767" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000506", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:286" }, "publicationId": "ORPHA:286" }, "phenotypeStatement": "Telecanthus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000709", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300088" }, "publicationId": "MIM:300088" }, "phenotypeStatement": "Psychosis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000709", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:714652" }, "publicationId": "ORPHA:714652" }, "phenotypeStatement": "Psychosis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256100" }, "publicationId": "MIM:256100" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9361039" }, "publicationId": "PMID:9361039" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:266900" }, "publicationId": "MIM:266900" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9856524" }, "publicationId": "PMID:9856524" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609583" }, "publicationId": "MIM:609583" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15138899" }, "publicationId": "PMID:15138899" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610156" }, "publicationId": "MIM:610156" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21474" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16493448" }, "publicationId": "PMID:16493448" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21474" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607778" }, "publicationId": "MIM:607778" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12624140" }, "publicationId": "PMID:12624140" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:63446" }, "publicationId": "ORPHA:63446" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1541" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:102500" }, "publicationId": "MIM:102500" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7882" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:955" }, "publicationId": "ORPHA:955" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7882" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618004" }, "publicationId": "MIM:618004" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18756" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29276004" }, "publicationId": "PMID:29276004" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18756" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18756" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000268", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614816" }, "publicationId": "MIM:614816" }, "phenotypeStatement": "Dolichocephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000268", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25046559" }, "publicationId": "PMID:25046559" }, "phenotypeStatement": "Dolichocephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614866" }, "publicationId": "MIM:614866" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9717" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14630978" }, "publicationId": "PMID:14630978" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9717" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614867" }, "publicationId": "MIM:614867" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9717" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10528859" }, "publicationId": "PMID:10528859" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9717" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:772" }, "publicationId": "ORPHA:772" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9717" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100801", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620991" }, "publicationId": "MIM:620991" }, "phenotypeStatement": "Pancreatic aplasia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:33230" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100801", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37973953" }, "publicationId": "PMID:37973953" }, "phenotypeStatement": "Pancreatic aplasia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:33230" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:606777" }, "publicationId": "MIM:606777" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11603379" }, "publicationId": "PMID:11603379" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1942" }, "publicationId": "ORPHA:1942" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2131" }, "publicationId": "ORPHA:2131" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000980", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98820" }, "publicationId": "ORPHA:98820" }, "phenotypeStatement": "Pallor", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619007" }, "publicationId": "MIM:619007" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5384" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28412069" }, "publicationId": "PMID:28412069" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5384" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:222765" }, "publicationId": "MIM:222765" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001629", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98434" }, "publicationId": "ORPHA:98434" }, "phenotypeStatement": "Ventricular septal defect", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000771", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614837" }, "publicationId": "MIM:614837" }, "phenotypeStatement": "Gynecomastia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4510" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000771", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:432" }, "publicationId": "ORPHA:432" }, "phenotypeStatement": "Gynecomastia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4510" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616723" }, "publicationId": "MIM:616723" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:457395" }, "publicationId": "ORPHA:457395" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000505", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:254886" }, "publicationId": "ORPHA:254886" }, "phenotypeStatement": "Visual impairment", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614098" }, "publicationId": "MIM:614098" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6267" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025336", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620964" }, "publicationId": "MIM:620964" }, "phenotypeStatement": "Delayed ability to sit", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025336", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39209426" }, "publicationId": "PMID:39209426" }, "phenotypeStatement": "Delayed ability to sit", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618870" }, "publicationId": "MIM:618870" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31325655" }, "publicationId": "PMID:31325655" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31705726" }, "publicationId": "PMID:31705726" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1425" }, "publicationId": "ORPHA:1425" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012207", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620917" }, "publicationId": "MIM:620917" }, "phenotypeStatement": "Reduced sperm motility", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:26485" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012207", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36752199" }, "publicationId": "PMID:36752199" }, "phenotypeStatement": "Reduced sperm motility", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:26485" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617127" }, "publicationId": "MIM:617127" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26643951" }, "publicationId": "PMID:26643951" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619479" }, "publicationId": "MIM:619479" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29138412" }, "publicationId": "PMID:29138412" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620939" }, "publicationId": "MIM:620939" }, "phenotypeStatement": "Depressed nasal tip", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000437", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29784638" }, "publicationId": "PMID:29784638" }, "phenotypeStatement": "Depressed nasal tip", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614557" }, "publicationId": "MIM:614557" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24773188" }, "publicationId": "PMID:24773188" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3303" }, "publicationId": "ORPHA:3303" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:32940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619007" }, "publicationId": "MIM:619007" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5384" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28412069" }, "publicationId": "PMID:28412069" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5384" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5384" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614322" }, "publicationId": "MIM:614322" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12799" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24369382" }, "publicationId": "PMID:24369382" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12799" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616211" }, "publicationId": "MIM:616211" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12799" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25411445" }, "publicationId": "PMID:25411445" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12799" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30356099" }, "publicationId": "PMID:30356099" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12799" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617105" }, "publicationId": "MIM:617105" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27476654" }, "publicationId": "PMID:27476654" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1515" }, "publicationId": "ORPHA:1515" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:253250" }, "publicationId": "MIM:253250" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7523" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7726235" }, "publicationId": "PMID:7726235" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7523" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:259770" }, "publicationId": "MIM:259770" }, "phenotypeStatement": "Cataract", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21407258" }, "publicationId": "PMID:21407258" }, "phenotypeStatement": "Cataract", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:891" }, "publicationId": "ORPHA:891" }, "phenotypeStatement": "Cataract", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:90050" }, "publicationId": "ORPHA:90050" }, "phenotypeStatement": "Cataract", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:26527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618098" }, "publicationId": "MIM:618098" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29290614" }, "publicationId": "PMID:29290614" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:254886" }, "publicationId": "ORPHA:254886" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300106" }, "publicationId": "MIM:300106" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1044" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27236923" }, "publicationId": "PMID:27236923" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1044" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610246" }, "publicationId": "MIM:610246" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16251216" }, "publicationId": "PMID:16251216" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618977" }, "publicationId": "MIM:618977" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32219868" }, "publicationId": "PMID:32219868" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:606777" }, "publicationId": "MIM:606777" }, "phenotypeStatement": "Babinski sign", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11603379" }, "publicationId": "PMID:11603379" }, "phenotypeStatement": "Babinski sign", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11005" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:35689" }, "publicationId": "ORPHA:35689" }, "phenotypeStatement": "Abnormality of extrapyramidal motor function", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000100", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:203780" }, "publicationId": "MIM:203780" }, "phenotypeStatement": "Nephrotic syndrome", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2206" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:397715" }, "publicationId": "ORPHA:397715" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:26193" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000581", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610443" }, "publicationId": "MIM:610443" }, "phenotypeStatement": "Blepharophimosis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000581", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18628315" }, "publicationId": "PMID:18628315" }, "phenotypeStatement": "Blepharophimosis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2044" }, "publicationId": "ORPHA:2044" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:16974" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604116" }, "publicationId": "MIM:604116" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:34" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12037008" }, "publicationId": "PMID:12037008" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:34" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000946", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:600972" }, "publicationId": "MIM:600972" }, "phenotypeStatement": "Hypoplastic ilia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2345" }, "publicationId": "ORPHA:2345" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:772" }, "publicationId": "ORPHA:772" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:8850" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:252500" }, "publicationId": "MIM:252500" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19659762" }, "publicationId": "PMID:19659762" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010772", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Anomalous pulmonary venous return", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25678" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:271510" }, "publicationId": "MIM:271510" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30773277" }, "publicationId": "PMID:30773277" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002870", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609192" }, "publicationId": "MIM:609192" }, "phenotypeStatement": "Obstructive sleep apnea", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002870", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16596670" }, "publicationId": "PMID:16596670" }, "phenotypeStatement": "Obstructive sleep apnea", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002202", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620977" }, "publicationId": "MIM:620977" }, "phenotypeStatement": "Pleural effusion", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002202", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39198650" }, "publicationId": "PMID:39198650" }, "phenotypeStatement": "Pleural effusion", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004942", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Aortic aneurysm", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:268000" }, "publicationId": "MIM:268000" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:8789" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614099" }, "publicationId": "MIM:614099" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21378380" }, "publicationId": "PMID:21378380" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1515" }, "publicationId": "ORPHA:1515" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300590" }, "publicationId": "MIM:300590" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11111" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199" }, "publicationId": "ORPHA:199" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11111" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:606170" }, "publicationId": "MIM:606170" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22265014" }, "publicationId": "PMID:22265014" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:85201" }, "publicationId": "ORPHA:85201" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3047" }, "publicationId": "ORPHA:3047" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:215150" }, "publicationId": "MIM:215150" }, "phenotypeStatement": "Short stature", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7859284" }, "publicationId": "PMID:7859284" }, "phenotypeStatement": "Short stature", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2021" }, "publicationId": "ORPHA:2021" }, "phenotypeStatement": "Short stature", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9891" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608776" }, "publicationId": "MIM:608776" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26453364" }, "publicationId": "PMID:26453364" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79328" }, "publicationId": "ORPHA:79328" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620504" }, "publicationId": "MIM:620504" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36067010" }, "publicationId": "PMID:36067010" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001695", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:171430" }, "publicationId": "ORPHA:171430" }, "phenotypeStatement": "Cardiac arrest", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:30372" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:898" }, "publicationId": "ORPHA:898" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2311" }, "publicationId": "ORPHA:2311" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21390" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:309282" }, "publicationId": "ORPHA:309282" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6826" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002656", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:132400" }, "publicationId": "MIM:132400" }, "phenotypeStatement": "Epiphyseal dysplasia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2227" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002656", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7670472" }, "publicationId": "PMID:7670472" }, "phenotypeStatement": "Epiphyseal dysplasia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2227" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011473", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:38874" }, "publicationId": "ORPHA:38874" }, "phenotypeStatement": "Villous atrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3013" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:230650" }, "publicationId": "MIM:230650" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4298" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8198123" }, "publicationId": "PMID:8198123" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4298" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000546", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Retinal degeneration", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000546", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37107710" }, "publicationId": "PMID:37107710" }, "phenotypeStatement": "Retinal degeneration", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033044", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Motor regression", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033044", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29040572" }, "publicationId": "PMID:29040572" }, "phenotypeStatement": "Motor regression", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033044", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33348459" }, "publicationId": "PMID:33348459" }, "phenotypeStatement": "Motor regression", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300106" }, "publicationId": "MIM:300106" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1044" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620786" }, "publicationId": "MIM:620786" }, "phenotypeStatement": "Depression", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25875" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38480682" }, "publicationId": "PMID:38480682" }, "phenotypeStatement": "Depression", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25875" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614976" }, "publicationId": "MIM:614976" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3233" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23063620" }, "publicationId": "PMID:23063620" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3233" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001290", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620985" }, "publicationId": "MIM:620985" }, "phenotypeStatement": "Generalized hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001290", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38815585" }, "publicationId": "PMID:38815585" }, "phenotypeStatement": "Generalized hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:136140" }, "publicationId": "MIM:136140" }, "phenotypeStatement": "Delayed ability to walk", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:16974" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23763483" }, "publicationId": "PMID:23763483" }, "phenotypeStatement": "Delayed ability to walk", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:16974" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:220386" }, "publicationId": "ORPHA:220386" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12873" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93924" }, "publicationId": "ORPHA:93924" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12873" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93926" }, "publicationId": "ORPHA:93926" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12873" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93925" }, "publicationId": "ORPHA:93925" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12873" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:280200" }, "publicationId": "ORPHA:280200" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12873" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617384" }, "publicationId": "MIM:617384" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:28908" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28132689" }, "publicationId": "PMID:28132689" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:28908" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:166250" }, "publicationId": "MIM:166250" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3688" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:190440" }, "publicationId": "MIM:190440" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3688" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11173846" }, "publicationId": "PMID:11173846" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3688" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000846", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Adrenal insufficiency", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000846", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Adrenal insufficiency", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:102370" }, "publicationId": "MIM:102370" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608328" }, "publicationId": "MIM:608328" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23897642" }, "publicationId": "PMID:23897642" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:969" }, "publicationId": "ORPHA:969" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1713" }, "publicationId": "ORPHA:1713" }, "phenotypeStatement": "Triangular face", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:477817" }, "publicationId": "ORPHA:477817" }, "phenotypeStatement": "Triangular face", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609439" }, "publicationId": "MIM:609439" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:24579" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001653", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:121050" }, "publicationId": "MIM:121050" }, "phenotypeStatement": "Mitral regurgitation", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003438", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608810" }, "publicationId": "MIM:608810" }, "phenotypeStatement": "Absent Achilles reflex", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003438", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14681890" }, "publicationId": "PMID:14681890" }, "phenotypeStatement": "Absent Achilles reflex", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616468" }, "publicationId": "MIM:616468" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23716654" }, "publicationId": "PMID:23716654" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2462" }, "publicationId": "ORPHA:2462" }, "phenotypeStatement": "Frontal bossing", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610168" }, "publicationId": "MIM:610168" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18084123" }, "publicationId": "PMID:18084123" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19875893" }, "publicationId": "PMID:19875893" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20358619" }, "publicationId": "PMID:20358619" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24344637" }, "publicationId": "PMID:24344637" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28163941" }, "publicationId": "PMID:28163941" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601553" }, "publicationId": "MIM:601553" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12445216" }, "publicationId": "PMID:12445216" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28061825" }, "publicationId": "PMID:28061825" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35996915" }, "publicationId": "PMID:35996915" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:228600" }, "publicationId": "MIM:228600" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21732" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14508707" }, "publicationId": "PMID:14508707" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21732" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009803", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607326" }, "publicationId": "MIM:607326" }, "phenotypeStatement": "Short phalanx of finger", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21317" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:606232" }, "publicationId": "MIM:606232" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20301377" }, "publicationId": "PMID:20301377" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002346", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620911" }, "publicationId": "MIM:620911" }, "phenotypeStatement": "Head tremor", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002346", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36136088" }, "publicationId": "PMID:36136088" }, "phenotypeStatement": "Head tremor", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002359", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621010" }, "publicationId": "MIM:621010" }, "phenotypeStatement": "Frequent falls", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002359", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39106866" }, "publicationId": "PMID:39106866" }, "phenotypeStatement": "Frequent falls", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:136880" }, "publicationId": "MIM:136880" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613731" }, "publicationId": "MIM:613731" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33777460" }, "publicationId": "PMID:33777460" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:52427" }, "publicationId": "ORPHA:52427" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:215" }, "publicationId": "ORPHA:215" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614376" }, "publicationId": "MIM:614376" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22019273" }, "publicationId": "PMID:22019273" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617877" }, "publicationId": "MIM:617877" }, "phenotypeStatement": "Synophrys", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1069" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29198724" }, "publicationId": "PMID:29198724" }, "phenotypeStatement": "Synophrys", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1069" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003016", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:177170" }, "publicationId": "MIM:177170" }, "phenotypeStatement": "Metaphyseal widening", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2227" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003016", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:750" }, "publicationId": "ORPHA:750" }, "phenotypeStatement": "Metaphyseal widening", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2227" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000164", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:659" }, "publicationId": "ORPHA:659" }, "phenotypeStatement": "Abnormality of the dentition", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Epistaxis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619656" }, "publicationId": "MIM:619656" }, "phenotypeStatement": "Striae distensae", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26247899" }, "publicationId": "PMID:26247899" }, "phenotypeStatement": "Striae distensae", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29967133" }, "publicationId": "PMID:29967133" }, "phenotypeStatement": "Striae distensae", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Striae distensae", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:268305" }, "publicationId": "MIM:268305" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18683" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3102" }, "publicationId": "ORPHA:3102" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18683" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:143095" }, "publicationId": "MIM:143095" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1971" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:245600" }, "publicationId": "MIM:245600" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1971" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Short foot", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Short foot", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:206900" }, "publicationId": "MIM:206900" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15812812" }, "publicationId": "PMID:15812812" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:35612" }, "publicationId": "ORPHA:35612" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:212550" }, "publicationId": "MIM:212550" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10892" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:130070" }, "publicationId": "MIM:130070" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:930" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604919" }, "publicationId": "MIM:604919" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:132" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26564089" }, "publicationId": "PMID:26564089" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:132" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:64755" }, "publicationId": "ORPHA:64755" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:132" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613559" }, "publicationId": "MIM:613559" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:26784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20598281" }, "publicationId": "PMID:20598281" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:26784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300523" }, "publicationId": "MIM:300523" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10923" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:59" }, "publicationId": "ORPHA:59" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10923" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000954", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619297" }, "publicationId": "MIM:619297" }, "phenotypeStatement": "Single transverse palmar crease", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6473" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000954", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33961779" }, "publicationId": "PMID:33961779" }, "phenotypeStatement": "Single transverse palmar crease", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6473" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620819" }, "publicationId": "MIM:620819" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37055165" }, "publicationId": "PMID:37055165" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2879" }, "publicationId": "ORPHA:2879" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12786" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001284", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Areflexia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001284", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33348459" }, "publicationId": "PMID:33348459" }, "phenotypeStatement": "Areflexia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:233910" }, "publicationId": "MIM:233910" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4193" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98808" }, "publicationId": "ORPHA:98808" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4193" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617022" }, "publicationId": "MIM:617022" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18591" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26908619" }, "publicationId": "PMID:26908619" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18591" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034694", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620923" }, "publicationId": "MIM:620923" }, "phenotypeStatement": "Substantia nigra dopaminergic neuron loss", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034694", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38614108" }, "publicationId": "PMID:38614108" }, "phenotypeStatement": "Substantia nigra dopaminergic neuron loss", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000023", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Inguinal hernia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25835" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:275" }, "publicationId": "ORPHA:275" }, "phenotypeStatement": "Neoplasm", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000054", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:308700" }, "publicationId": "MIM:308700" }, "phenotypeStatement": "Micropenis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6211" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000054", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:1594017" }, "publicationId": "PMID:1594017" }, "phenotypeStatement": "Micropenis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6211" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000054", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:478" }, "publicationId": "ORPHA:478" }, "phenotypeStatement": "Micropenis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6211" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608022" }, "publicationId": "MIM:608022" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24154" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20869035" }, "publicationId": "PMID:20869035" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24154" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001537", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620908" }, "publicationId": "MIM:620908" }, "phenotypeStatement": "Umbilical hernia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001537", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36351433" }, "publicationId": "PMID:36351433" }, "phenotypeStatement": "Umbilical hernia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Depression", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Depression", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1810" }, "publicationId": "ORPHA:1810" }, "phenotypeStatement": "Abnormal dental morphology", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6698" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:99798" }, "publicationId": "ORPHA:99798" }, "phenotypeStatement": "Abnormal dental morphology", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6698" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300232" }, "publicationId": "MIM:300232" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:8768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:252600" }, "publicationId": "MIM:252600" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30208878" }, "publicationId": "PMID:30208878" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:135500" }, "publicationId": "MIM:135500" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6250" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3473" }, "publicationId": "ORPHA:3473" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6250" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615731" }, "publicationId": "MIM:615731" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:16905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24268659" }, "publicationId": "PMID:24268659" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:16905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:171430" }, "publicationId": "ORPHA:171430" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:16905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:171436" }, "publicationId": "ORPHA:171436" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:16905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:171439" }, "publicationId": "ORPHA:171439" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:16905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:129600" }, "publicationId": "MIM:129600" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12446365" }, "publicationId": "PMID:12446365" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22219643" }, "publicationId": "PMID:22219643" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22736615" }, "publicationId": "PMID:22736615" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33576469" }, "publicationId": "PMID:33576469" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8188302" }, "publicationId": "PMID:8188302" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:154700" }, "publicationId": "MIM:154700" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8172269" }, "publicationId": "PMID:8172269" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2833" }, "publicationId": "ORPHA:2833" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2462" }, "publicationId": "ORPHA:2462" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000938", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610967" }, "publicationId": "MIM:610967" }, "phenotypeStatement": "Osteopenia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:16644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000938", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10976985" }, "publicationId": "PMID:10976985" }, "phenotypeStatement": "Osteopenia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:16644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:130650" }, "publicationId": "MIM:130650" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:1786" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Palmoplantar peeling", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025819", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17989726" }, "publicationId": "PMID:17989726" }, "phenotypeStatement": "Palmoplantar peeling", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:105830" }, "publicationId": "MIM:105830" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12496" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8929945" }, "publicationId": "PMID:8929945" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12496" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98794" }, "publicationId": "ORPHA:98794" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12496" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:122600" }, "publicationId": "MIM:122600" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:11605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2311" }, "publicationId": "ORPHA:2311" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:11605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1797" }, "publicationId": "ORPHA:1797" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:11605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:180700" }, "publicationId": "MIM:180700" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:12784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24716670" }, "publicationId": "PMID:24716670" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:12784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617877" }, "publicationId": "MIM:617877" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:1069" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79157" }, "publicationId": "ORPHA:79157" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:91" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:974" }, "publicationId": "ORPHA:974" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2910" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614306" }, "publicationId": "MIM:614306" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:10596" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16236810" }, "publicationId": "PMID:16236810" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:10596" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:352582" }, "publicationId": "ORPHA:352582" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:10596" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:30391" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:269250" }, "publicationId": "MIM:269250" }, "phenotypeStatement": "Flat acetabular roof", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:20800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17952091" }, "publicationId": "PMID:17952091" }, "phenotypeStatement": "Flat acetabular roof", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:20800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2150" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610356" }, "publicationId": "MIM:610356" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:19698" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16909397" }, "publicationId": "PMID:16909397" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:19698" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009004", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613630" }, "publicationId": "MIM:613630" }, "phenotypeStatement": "Hypoplasia of the musculature", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:1974" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009004", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20961246" }, "publicationId": "PMID:20961246" }, "phenotypeStatement": "Hypoplasia of the musculature", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:1974" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006298", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619267" }, "publicationId": "MIM:619267" }, "phenotypeStatement": "Prolonged bleeding after dental extraction", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:6156" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006298", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21917754" }, "publicationId": "PMID:21917754" }, "phenotypeStatement": "Prolonged bleeding after dental extraction", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:6156" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006298", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Prolonged bleeding after dental extraction", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:6156" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609923" }, "publicationId": "MIM:609923" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:21653" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608091" }, "publicationId": "MIM:608091" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20036350" }, "publicationId": "PMID:20036350" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2318" }, "publicationId": "ORPHA:2318" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2754" }, "publicationId": "ORPHA:2754" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006532", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Recurrent pneumonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006532", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15656819" }, "publicationId": "PMID:15656819" }, "phenotypeStatement": "Recurrent pneumonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006532", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39036217" }, "publicationId": "PMID:39036217" }, "phenotypeStatement": "Recurrent pneumonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006532", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:40607310" }, "publicationId": "PMID:40607310" }, "phenotypeStatement": "Recurrent pneumonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:103580" }, "publicationId": "MIM:103580" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:603233" }, "publicationId": "MIM:603233" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612463" }, "publicationId": "MIM:612463" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612462" }, "publicationId": "MIM:612462" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21488135" }, "publicationId": "PMID:21488135" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79443" }, "publicationId": "ORPHA:79443" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79444" }, "publicationId": "ORPHA:79444" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620988" }, "publicationId": "MIM:620988" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2750" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37467750" }, "publicationId": "PMID:37467750" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2750" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619383" }, "publicationId": "MIM:619383" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:30595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29808498" }, "publicationId": "PMID:29808498" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:30595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30520571" }, "publicationId": "PMID:30520571" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:30595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601067" }, "publicationId": "MIM:601067" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:602083" }, "publicationId": "MIM:602083" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11398101" }, "publicationId": "PMID:11398101" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18719945" }, "publicationId": "PMID:18719945" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231169" }, "publicationId": "ORPHA:231169" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:251450" }, "publicationId": "MIM:251450" }, "phenotypeStatement": "Malar flattening", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:19721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7977470" }, "publicationId": "PMID:7977470" }, "phenotypeStatement": "Malar flattening", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:19721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615777" }, "publicationId": "MIM:615777" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15516" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24581741" }, "publicationId": "PMID:24581741" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15516" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034982", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620931" }, "publicationId": "MIM:620931" }, "phenotypeStatement": "Perianal anesthesia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034982", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38422122" }, "publicationId": "PMID:38422122" }, "phenotypeStatement": "Perianal anesthesia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615922" }, "publicationId": "MIM:615922" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17349" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24419317" }, "publicationId": "PMID:24419317" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17349" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:296" }, "publicationId": "ORPHA:296" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5382" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:99646" }, "publicationId": "ORPHA:99646" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:5382" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:605822" }, "publicationId": "MIM:605822" }, "phenotypeStatement": "Short stature", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15517" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:85194" }, "publicationId": "ORPHA:85194" }, "phenotypeStatement": "Short stature", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:15517" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617303" }, "publicationId": "MIM:617303" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27547915" }, "publicationId": "PMID:27547915" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18179" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000494", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1770" }, "publicationId": "ORPHA:1770" }, "phenotypeStatement": "Downslanted palpebral fissures", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17485" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001640", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:171430" }, "publicationId": "ORPHA:171430" }, "phenotypeStatement": "Cardiomegaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7720" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:117550" }, "publicationId": "MIM:117550" }, "phenotypeStatement": "Broad forehead", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28328121" }, "publicationId": "PMID:28328121" }, "phenotypeStatement": "Broad forehead", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3447" }, "publicationId": "ORPHA:3447" }, "phenotypeStatement": "Broad forehead", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2189" }, "publicationId": "ORPHA:2189" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:26558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001320", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Cerebellar vermis hypoplasia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001320", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30250212" }, "publicationId": "PMID:30250212" }, "phenotypeStatement": "Cerebellar vermis hypoplasia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001320", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:543470" }, "publicationId": "ORPHA:543470" }, "phenotypeStatement": "Cerebellar vermis hypoplasia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617941" }, "publicationId": "MIM:617941" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25789" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28331068" }, "publicationId": "PMID:28331068" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:25789" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616469" }, "publicationId": "MIM:616469" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:20041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25882705" }, "publicationId": "PMID:25882705" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:20041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:262400" }, "publicationId": "MIM:262400" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4261" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612781" }, "publicationId": "MIM:612781" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4261" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8288694" }, "publicationId": "PMID:8288694" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4261" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:262650" }, "publicationId": "MIM:262650" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4261" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032438", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Platelet anisocytosis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4238" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614897" }, "publicationId": "MIM:614897" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10723" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22416012" }, "publicationId": "PMID:22416012" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10723" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:478" }, "publicationId": "ORPHA:478" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10723" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:135300" }, "publicationId": "MIM:135300" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11868160" }, "publicationId": "PMID:11868160" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610733" }, "publicationId": "MIM:610733" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17143282" }, "publicationId": "PMID:17143282" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17586837" }, "publicationId": "PMID:17586837" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610282" }, "publicationId": "MIM:610282" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10729" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16199541" }, "publicationId": "PMID:16199541" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10729" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10729" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10729" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610283" }, "publicationId": "MIM:610283" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10729" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16199541" }, "publicationId": "PMID:16199541" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10729" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001669", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Transposition of the great arteries", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12760" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000786", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614839" }, "publicationId": "MIM:614839" }, "phenotypeStatement": "Primary amenorrhea", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11521" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000786", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19079066" }, "publicationId": "PMID:19079066" }, "phenotypeStatement": "Primary amenorrhea", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11521" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000786", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:432" }, "publicationId": "ORPHA:432" }, "phenotypeStatement": "Primary amenorrhea", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11521" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:227645" }, "publicationId": "MIM:227645" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3584" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3584" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001336", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:550" }, "publicationId": "ORPHA:550" }, "phenotypeStatement": "Myoclonus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001746", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Asplenia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12760" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614879" }, "publicationId": "MIM:614879" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:8860" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17325280" }, "publicationId": "PMID:17325280" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:8860" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000194", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610443" }, "publicationId": "MIM:610443" }, "phenotypeStatement": "Open mouth", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619745" }, "publicationId": "MIM:619745" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34626534" }, "publicationId": "PMID:34626534" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001541", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:69665" }, "publicationId": "ORPHA:69665" }, "phenotypeStatement": "Ascites", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:42" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:56304" }, "publicationId": "ORPHA:56304" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000316", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:628" }, "publicationId": "ORPHA:628" }, "phenotypeStatement": "Hypertelorism", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300882" }, "publicationId": "MIM:300882" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:13315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199" }, "publicationId": "ORPHA:199" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:13315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:603671" }, "publicationId": "MIM:603671" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25105228" }, "publicationId": "PMID:25105228" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26706854" }, "publicationId": "PMID:26706854" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1827" }, "publicationId": "ORPHA:1827" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617865" }, "publicationId": "MIM:617865" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29198722" }, "publicationId": "PMID:29198722" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615995" }, "publicationId": "MIM:615995" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:28093" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24026985" }, "publicationId": "PMID:24026985" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:28093" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615220" }, "publicationId": "MIM:615220" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12774" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609923" }, "publicationId": "MIM:609923" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21653" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17924349" }, "publicationId": "PMID:17924349" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21653" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620071" }, "publicationId": "MIM:620071" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9547" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35861243" }, "publicationId": "PMID:35861243" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9547" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004409", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620923" }, "publicationId": "MIM:620923" }, "phenotypeStatement": "Hyposmia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004409", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38614108" }, "publicationId": "PMID:38614108" }, "phenotypeStatement": "Hyposmia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004409", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38858457" }, "publicationId": "PMID:38858457" }, "phenotypeStatement": "Hyposmia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617168" }, "publicationId": "MIM:617168" }, "phenotypeStatement": "Striae distensae", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6664" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26838787" }, "publicationId": "PMID:26838787" }, "phenotypeStatement": "Striae distensae", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6664" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620458" }, "publicationId": "MIM:620458" }, "phenotypeStatement": "Synophrys", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9059" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27007857" }, "publicationId": "PMID:27007857" }, "phenotypeStatement": "Synophrys", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9059" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31124279" }, "publicationId": "PMID:31124279" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000486", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Strabismus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612961" }, "publicationId": "MIM:612961" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3687" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:220493" }, "publicationId": "ORPHA:220493" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:26690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:475" }, "publicationId": "ORPHA:475" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:26690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002414", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Spina bifida", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:26171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001712", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611556" }, "publicationId": "MIM:611556" }, "phenotypeStatement": "Left ventricular hypertrophy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4706" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001712", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:137625" }, "publicationId": "ORPHA:137625" }, "phenotypeStatement": "Left ventricular hypertrophy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4706" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619135" }, "publicationId": "MIM:619135" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:24641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31712251" }, "publicationId": "PMID:31712251" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:24641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:7" }, "publicationId": "ORPHA:7" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:24641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:219200" }, "publicationId": "MIM:219200" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22773132" }, "publicationId": "PMID:22773132" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:278250" }, "publicationId": "MIM:278250" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001371", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:208050" }, "publicationId": "MIM:208050" }, "phenotypeStatement": "Flexion contracture", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614231" }, "publicationId": "MIM:614231" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615198" }, "publicationId": "MIM:615198" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18608" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27055475" }, "publicationId": "PMID:27055475" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18608" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614613" }, "publicationId": "MIM:614613" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:8783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22464250" }, "publicationId": "PMID:22464250" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:8783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617988" }, "publicationId": "MIM:617988" }, "phenotypeStatement": "Ectodermal dysplasia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29449720" }, "publicationId": "PMID:29449720" }, "phenotypeStatement": "Ectodermal dysplasia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008994", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607706" }, "publicationId": "MIM:607706" }, "phenotypeStatement": "Proximal lower limb muscle weakness", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15968" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008994", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12821518" }, "publicationId": "PMID:12821518" }, "phenotypeStatement": "Proximal lower limb muscle weakness", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15968" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008994", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:101097" }, "publicationId": "ORPHA:101097" }, "phenotypeStatement": "Proximal lower limb muscle weakness", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15968" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001290", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:208050" }, "publicationId": "MIM:208050" }, "phenotypeStatement": "Generalized hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621010" }, "publicationId": "MIM:621010" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39106866" }, "publicationId": "PMID:39106866" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000455", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620987" }, "publicationId": "MIM:620987" }, "phenotypeStatement": "Broad nasal tip", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000455", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38128568" }, "publicationId": "PMID:38128568" }, "phenotypeStatement": "Broad nasal tip", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1788" }, "publicationId": "ORPHA:1788" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:10771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:193700" }, "publicationId": "MIM:193700" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:7573" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20924721" }, "publicationId": "PMID:20924721" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:7573" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:166024" }, "publicationId": "ORPHA:166024" }, "phenotypeStatement": "Cutaneous syndactyly", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620149" }, "publicationId": "MIM:620149" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:1399" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35293990" }, "publicationId": "PMID:35293990" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:1399" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616413" }, "publicationId": "MIM:616413" }, "phenotypeStatement": "Depression", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:12827" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:136880" }, "publicationId": "MIM:136880" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:10024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607475" }, "publicationId": "MIM:607475" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:10024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607476" }, "publicationId": "MIM:607476" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:10024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11868161" }, "publicationId": "PMID:11868161" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:10024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:52427" }, "publicationId": "ORPHA:52427" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:10024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:10024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:85128" }, "publicationId": "ORPHA:85128" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:10024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000998", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621012" }, "publicationId": "MIM:621012" }, "phenotypeStatement": "Hypertrichosis", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000998", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39442041" }, "publicationId": "PMID:39442041" }, "phenotypeStatement": "Hypertrichosis", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:258480" }, "publicationId": "MIM:258480" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:6080" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621049" }, "publicationId": "MIM:621049" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:29127" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38479391" }, "publicationId": "PMID:38479391" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:29127" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:9829" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614376" }, "publicationId": "MIM:614376" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22019273" }, "publicationId": "PMID:22019273" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614378" }, "publicationId": "MIM:614378" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22019273" }, "publicationId": "PMID:22019273" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616307" }, "publicationId": "MIM:616307" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23559409" }, "publicationId": "PMID:23559409" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614377" }, "publicationId": "MIM:614377" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22019273" }, "publicationId": "PMID:22019273" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619867" }, "publicationId": "MIM:619867" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32323121" }, "publicationId": "PMID:32323121" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300804" }, "publicationId": "MIM:300804" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:311200" }, "publicationId": "MIM:311200" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2750" }, "publicationId": "ORPHA:2750" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2754" }, "publicationId": "ORPHA:2754" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003687", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620964" }, "publicationId": "MIM:620964" }, "phenotypeStatement": "Centrally nucleated skeletal muscle fibers", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:14201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003687", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39209426" }, "publicationId": "PMID:39209426" }, "phenotypeStatement": "Centrally nucleated skeletal muscle fibers", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:14201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620780" }, "publicationId": "MIM:620780" }, "phenotypeStatement": "Narrow palate", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31792352" }, "publicationId": "PMID:31792352" }, "phenotypeStatement": "Narrow palate", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:3218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617602" }, "publicationId": "MIM:617602" }, "phenotypeStatement": "Broad forehead", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:76" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614727" }, "publicationId": "MIM:614727" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:30760" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22683087" }, "publicationId": "PMID:22683087" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:30760" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:271665" }, "publicationId": "MIM:271665" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2731" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19110212" }, "publicationId": "PMID:19110212" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2731" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20223752" }, "publicationId": "PMID:20223752" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:2731" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010743", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:251450" }, "publicationId": "MIM:251450" }, "phenotypeStatement": "Short metatarsal", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:19721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:239200" }, "publicationId": "MIM:239200" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:417" }, "publicationId": "ORPHA:417" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:40.000-06:00", "objectId": "HGNC:1514" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613686" }, "publicationId": "MIM:613686" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15977" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20087400" }, "publicationId": "PMID:20087400" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15977" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000581", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620939" }, "publicationId": "MIM:620939" }, "phenotypeStatement": "Blepharophimosis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000581", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29784638" }, "publicationId": "PMID:29784638" }, "phenotypeStatement": "Blepharophimosis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000678", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619184" }, "publicationId": "MIM:619184" }, "phenotypeStatement": "Dental crowding", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13655" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000678", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33308444" }, "publicationId": "PMID:33308444" }, "phenotypeStatement": "Dental crowding", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13655" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613477" }, "publicationId": "MIM:613477" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11273" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20493457" }, "publicationId": "PMID:20493457" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11273" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604393" }, "publicationId": "MIM:604393" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:359" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618821" }, "publicationId": "MIM:618821" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:25123" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30478137" }, "publicationId": "PMID:30478137" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:25123" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:253000" }, "publicationId": "MIM:253000" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621100" }, "publicationId": "MIM:621100" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:26517" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39824192" }, "publicationId": "PMID:39824192" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:26517" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:108300" }, "publicationId": "MIM:108300" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:184250" }, "publicationId": "MIM:184250" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:184253" }, "publicationId": "MIM:184253" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:271700" }, "publicationId": "MIM:271700" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616583" }, "publicationId": "MIM:616583" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26183434" }, "publicationId": "PMID:26183434" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:90653" }, "publicationId": "ORPHA:90653" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:85198" }, "publicationId": "ORPHA:85198" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1856" }, "publicationId": "ORPHA:1856" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:485" }, "publicationId": "ORPHA:485" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604864" }, "publicationId": "MIM:604864" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:1975693" }, "publicationId": "PMID:1975693" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93315" }, "publicationId": "ORPHA:93315" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93316" }, "publicationId": "ORPHA:93316" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609162" }, "publicationId": "MIM:609162" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17726487" }, "publicationId": "PMID:17726487" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:94068" }, "publicationId": "ORPHA:94068" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:156550" }, "publicationId": "MIM:156550" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7874117" }, "publicationId": "PMID:7874117" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:183900" }, "publicationId": "MIM:183900" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93346" }, "publicationId": "ORPHA:93346" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:85166" }, "publicationId": "ORPHA:85166" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620939" }, "publicationId": "MIM:620939" }, "phenotypeStatement": "Upper limb hypertonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29784638" }, "publicationId": "PMID:29784638" }, "phenotypeStatement": "Upper limb hypertonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36165187" }, "publicationId": "PMID:36165187" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003765", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:41047924" }, "publicationId": "PMID:41047924" }, "phenotypeStatement": "Psoriasiform dermatitis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621010" }, "publicationId": "MIM:621010" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39106866" }, "publicationId": "PMID:39106866" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2311" }, "publicationId": "ORPHA:2311" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6560" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034292", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:35704" }, "publicationId": "ORPHA:35704" }, "phenotypeStatement": "Reduced circulating creatine concentration", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4175" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025104", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Capillary malformation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025104", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31990481" }, "publicationId": "PMID:31990481" }, "phenotypeStatement": "Capillary malformation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040185", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619840" }, "publicationId": "MIM:619840" }, "phenotypeStatement": "Macrothrombocytopenia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12410" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040185", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34704371" }, "publicationId": "PMID:34704371" }, "phenotypeStatement": "Macrothrombocytopenia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12410" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040185", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Macrothrombocytopenia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12410" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009702", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608180" }, "publicationId": "MIM:608180" }, "phenotypeStatement": "Carpal synostosis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3600" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:234200" }, "publicationId": "MIM:234200" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15894" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15911822" }, "publicationId": "PMID:15911822" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15894" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003828", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:158000" }, "publicationId": "MIM:158000" }, "phenotypeStatement": "Variable expressivity", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6460" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609192" }, "publicationId": "MIM:609192" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15731757" }, "publicationId": "PMID:15731757" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16596670" }, "publicationId": "PMID:16596670" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29706644" }, "publicationId": "PMID:29706644" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31475485" }, "publicationId": "PMID:31475485" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1458" }, "publicationId": "ORPHA:1458" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9479" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:110" }, "publicationId": "ORPHA:110" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:969" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616202" }, "publicationId": "MIM:616202" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11551" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25561519" }, "publicationId": "PMID:25561519" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11551" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:605130" }, "publicationId": "MIM:605130" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7132" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25810209" }, "publicationId": "PMID:25810209" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7132" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:319182" }, "publicationId": "ORPHA:319182" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7132" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93271" }, "publicationId": "ORPHA:93271" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21862" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:125853" }, "publicationId": "MIM:125853" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:606394" }, "publicationId": "MIM:606394" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10545951" }, "publicationId": "PMID:10545951" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615539" }, "publicationId": "MIM:615539" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21144" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23704329" }, "publicationId": "PMID:23704329" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21144" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612313" }, "publicationId": "MIM:612313" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17377962" }, "publicationId": "PMID:17377962" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24301056" }, "publicationId": "PMID:24301056" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:576283" }, "publicationId": "ORPHA:576283" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:251028" }, "publicationId": "ORPHA:251028" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:251019" }, "publicationId": "ORPHA:251019" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:223800" }, "publicationId": "MIM:223800" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21317" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24300288" }, "publicationId": "PMID:24300288" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21317" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607326" }, "publicationId": "MIM:607326" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21317" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613805" }, "publicationId": "MIM:613805" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:1744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21358632" }, "publicationId": "PMID:21358632" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:1744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007371", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:169500" }, "publicationId": "MIM:169500" }, "phenotypeStatement": "Corpus callosum atrophy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:397590" }, "publicationId": "ORPHA:397590" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:5466" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:116400" }, "publicationId": "MIM:116400" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23531866" }, "publicationId": "PMID:23531866" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:125853" }, "publicationId": "MIM:125853" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:600965" }, "publicationId": "MIM:600965" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11709538" }, "publicationId": "PMID:11709538" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614296" }, "publicationId": "MIM:614296" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16648378" }, "publicationId": "PMID:16648378" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12601" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:214110" }, "publicationId": "MIM:214110" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9719" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:44" }, "publicationId": "ORPHA:44" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9719" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:772" }, "publicationId": "ORPHA:772" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9719" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:230500" }, "publicationId": "MIM:230500" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4298" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18524657" }, "publicationId": "PMID:18524657" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4298" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22234367" }, "publicationId": "PMID:22234367" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4298" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:253010" }, "publicationId": "MIM:253010" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4298" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33558080" }, "publicationId": "PMID:33558080" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4298" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79255" }, "publicationId": "ORPHA:79255" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4298" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003429", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617988" }, "publicationId": "MIM:617988" }, "phenotypeStatement": "CNS hypomyelination", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003429", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38118446" }, "publicationId": "PMID:38118446" }, "phenotypeStatement": "CNS hypomyelination", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619576" }, "publicationId": "MIM:619576" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:24662" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34089229" }, "publicationId": "PMID:34089229" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:24662" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:225500" }, "publicationId": "MIM:225500" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:19747" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:289" }, "publicationId": "ORPHA:289" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:19747" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:245600" }, "publicationId": "MIM:245600" }, "phenotypeStatement": "Hip dislocation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:1971" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:163950" }, "publicationId": "MIM:163950" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6840" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15240615" }, "publicationId": "PMID:15240615" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6840" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615279" }, "publicationId": "MIM:615279" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6840" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18042262" }, "publicationId": "PMID:18042262" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6840" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1340" }, "publicationId": "ORPHA:1340" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6840" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:606170" }, "publicationId": "MIM:606170" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:85201" }, "publicationId": "ORPHA:85201" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3047" }, "publicationId": "ORPHA:3047" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615065" }, "publicationId": "MIM:615065" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3147" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:223800" }, "publicationId": "MIM:223800" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21317" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19816730" }, "publicationId": "PMID:19816730" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21317" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607326" }, "publicationId": "MIM:607326" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21317" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19005420" }, "publicationId": "PMID:19005420" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21317" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002019", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:238455" }, "publicationId": "ORPHA:238455" }, "phenotypeStatement": "Constipation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:12730" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604364" }, "publicationId": "MIM:604364" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:110" }, "publicationId": "ORPHA:110" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:26648" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612394" }, "publicationId": "MIM:612394" }, "phenotypeStatement": "Anteverted nares", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18834968" }, "publicationId": "PMID:18834968" }, "phenotypeStatement": "Anteverted nares", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231169" }, "publicationId": "ORPHA:231169" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13281" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:252605" }, "publicationId": "MIM:252605" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23026" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79255" }, "publicationId": "ORPHA:79255" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4298" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003198", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:540000" }, "publicationId": "MIM:540000" }, "phenotypeStatement": "Myopathy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003198", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:551" }, "publicationId": "ORPHA:551" }, "phenotypeStatement": "Myopathy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003198", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:550" }, "publicationId": "ORPHA:550" }, "phenotypeStatement": "Myopathy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012393", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620931" }, "publicationId": "MIM:620931" }, "phenotypeStatement": "Allergy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012393", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38422122" }, "publicationId": "PMID:38422122" }, "phenotypeStatement": "Allergy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009295", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301132" }, "publicationId": "MIM:301132" }, "phenotypeStatement": "Short middle phalanx of the 4th finger", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009295", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38158857" }, "publicationId": "PMID:38158857" }, "phenotypeStatement": "Short middle phalanx of the 4th finger", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:253000" }, "publicationId": "MIM:253000" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35477222" }, "publicationId": "PMID:35477222" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609060" }, "publicationId": "MIM:609060" }, "phenotypeStatement": "Axial hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13780" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:137681" }, "publicationId": "ORPHA:137681" }, "phenotypeStatement": "Axial hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:13780" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002134", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Abnormal basal ganglia morphology", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002134", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33348459" }, "publicationId": "PMID:33348459" }, "phenotypeStatement": "Abnormal basal ganglia morphology", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002134", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:543470" }, "publicationId": "ORPHA:543470" }, "phenotypeStatement": "Abnormal basal ganglia morphology", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004855", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98434" }, "publicationId": "ORPHA:98434" }, "phenotypeStatement": "Reduced protein S activity", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012735", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620931" }, "publicationId": "MIM:620931" }, "phenotypeStatement": "Cough", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012735", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38422122" }, "publicationId": "PMID:38422122" }, "phenotypeStatement": "Cough", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615066" }, "publicationId": "MIM:615066" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:25535" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26911354" }, "publicationId": "PMID:26911354" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:25535" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28323974" }, "publicationId": "PMID:28323974" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:25535" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002987", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:259450" }, "publicationId": "MIM:259450" }, "phenotypeStatement": "Elbow flexion contracture", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18169" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002987", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20696291" }, "publicationId": "PMID:20696291" }, "phenotypeStatement": "Elbow flexion contracture", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18169" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601186" }, "publicationId": "MIM:601186" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:30650" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17273977" }, "publicationId": "PMID:17273977" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:30650" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001537", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619656" }, "publicationId": "MIM:619656" }, "phenotypeStatement": "Umbilical hernia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001537", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26247899" }, "publicationId": "PMID:26247899" }, "phenotypeStatement": "Umbilical hernia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611431" }, "publicationId": "MIM:611431" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20249" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1507" }, "publicationId": "ORPHA:1507" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18008" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301132" }, "publicationId": "MIM:301132" }, "phenotypeStatement": "Lateral ventricle dilatation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38158857" }, "publicationId": "PMID:38158857" }, "phenotypeStatement": "Lateral ventricle dilatation", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:154780" }, "publicationId": "MIM:154780" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9529347" }, "publicationId": "PMID:9529347" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:228520" }, "publicationId": "MIM:228520" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604841" }, "publicationId": "MIM:604841" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27081549" }, "publicationId": "PMID:27081549" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28971234" }, "publicationId": "PMID:28971234" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:560" }, "publicationId": "ORPHA:560" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2021" }, "publicationId": "ORPHA:2021" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:2186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0430047", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620908" }, "publicationId": "MIM:620908" }, "phenotypeStatement": "Large joint hypermobilty", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0430047", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36351433" }, "publicationId": "PMID:36351433" }, "phenotypeStatement": "Large joint hypermobilty", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:274000" }, "publicationId": "MIM:274000" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3320" }, "publicationId": "ORPHA:3320" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:217080" }, "publicationId": "MIM:217080" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:105" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19200527" }, "publicationId": "PMID:19200527" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:105" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001265", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Hyporeflexia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009803", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:102370" }, "publicationId": "MIM:102370" }, "phenotypeStatement": "Short phalanx of finger", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:414" }, "publicationId": "ORPHA:414" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:8091" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000303", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:182290" }, "publicationId": "MIM:182290" }, "phenotypeStatement": "Mandibular prognathia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000303", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20932317" }, "publicationId": "PMID:20932317" }, "phenotypeStatement": "Mandibular prognathia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000303", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:819" }, "publicationId": "ORPHA:819" }, "phenotypeStatement": "Mandibular prognathia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:606996" }, "publicationId": "MIM:606996" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:19104" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12205563" }, "publicationId": "PMID:12205563" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:19104" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009439", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301132" }, "publicationId": "MIM:301132" }, "phenotypeStatement": "Short middle phalanx of the 3rd finger", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009439", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38158857" }, "publicationId": "PMID:38158857" }, "phenotypeStatement": "Short middle phalanx of the 3rd finger", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000297", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620987" }, "publicationId": "MIM:620987" }, "phenotypeStatement": "Facial hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000297", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38128568" }, "publicationId": "PMID:38128568" }, "phenotypeStatement": "Facial hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:584" }, "publicationId": "ORPHA:584" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4696" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616959" }, "publicationId": "MIM:616959" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:17341" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26494905" }, "publicationId": "PMID:26494905" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:17341" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:659" }, "publicationId": "ORPHA:659" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:15455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619657" }, "publicationId": "MIM:619657" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30157302" }, "publicationId": "PMID:30157302" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:277400" }, "publicationId": "MIM:277400" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:24525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16311595" }, "publicationId": "PMID:16311595" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:24525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604393" }, "publicationId": "MIM:604393" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:359" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:359" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609528" }, "publicationId": "MIM:609528" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11133" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612001" }, "publicationId": "MIM:612001" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:1960" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19372089" }, "publicationId": "PMID:19372089" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:1960" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:115150" }, "publicationId": "MIM:115150" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:1097" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18456719" }, "publicationId": "PMID:18456719" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:1097" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:1097" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002509", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Limb hypertonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:268000" }, "publicationId": "MIM:268000" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6685" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613341" }, "publicationId": "MIM:613341" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6685" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:19963" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620908" }, "publicationId": "MIM:620908" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36351433" }, "publicationId": "PMID:36351433" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:606232" }, "publicationId": "MIM:606232" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:14294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620939" }, "publicationId": "MIM:620939" }, "phenotypeStatement": "Microcornea", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29784638" }, "publicationId": "PMID:29784638" }, "phenotypeStatement": "Microcornea", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613795" }, "publicationId": "MIM:613795" }, "phenotypeStatement": "Arachnodactyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22167769" }, "publicationId": "PMID:22167769" }, "phenotypeStatement": "Arachnodactyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29392890" }, "publicationId": "PMID:29392890" }, "phenotypeStatement": "Arachnodactyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32154675" }, "publicationId": "PMID:32154675" }, "phenotypeStatement": "Arachnodactyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:284984" }, "publicationId": "ORPHA:284984" }, "phenotypeStatement": "Arachnodactyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Arachnodactyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Arachnodactyly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:17271" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616325" }, "publicationId": "MIM:616325" }, "phenotypeStatement": "Dysphagia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15496425" }, "publicationId": "PMID:15496425" }, "phenotypeStatement": "Dysphagia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20371544" }, "publicationId": "PMID:20371544" }, "phenotypeStatement": "Dysphagia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23326516" }, "publicationId": "PMID:23326516" }, "phenotypeStatement": "Dysphagia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:259720" }, "publicationId": "MIM:259720" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16813530" }, "publicationId": "PMID:16813530" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23772242" }, "publicationId": "PMID:23772242" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:602535" }, "publicationId": "MIM:602535" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7788" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20673863" }, "publicationId": "PMID:20673863" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7788" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20949508" }, "publicationId": "PMID:20949508" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7788" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26200704" }, "publicationId": "PMID:26200704" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7788" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:447980" }, "publicationId": "ORPHA:447980" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7788" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:184095" }, "publicationId": "MIM:184095" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14755468" }, "publicationId": "PMID:14755468" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:184252" }, "publicationId": "MIM:184252" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93314" }, "publicationId": "ORPHA:93314" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000363", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Abnormal earlobe morphology", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:29366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:502" }, "publicationId": "ORPHA:502" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3512" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615565" }, "publicationId": "MIM:615565" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7745" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24043777" }, "publicationId": "PMID:24043777" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7745" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:166250" }, "publicationId": "MIM:166250" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3688" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:101200" }, "publicationId": "MIM:101200" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23546041" }, "publicationId": "PMID:23546041" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9002682" }, "publicationId": "PMID:9002682" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:123790" }, "publicationId": "MIM:123790" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18247426" }, "publicationId": "PMID:18247426" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:794" }, "publicationId": "ORPHA:794" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:101600" }, "publicationId": "MIM:101600" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:87" }, "publicationId": "ORPHA:87" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93260" }, "publicationId": "ORPHA:93260" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93258" }, "publicationId": "ORPHA:93258" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93259" }, "publicationId": "ORPHA:93259" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:207410" }, "publicationId": "MIM:207410" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1555" }, "publicationId": "ORPHA:1555" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007994", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231169" }, "publicationId": "ORPHA:231169" }, "phenotypeStatement": "Peripheral visual field loss", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:13733" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003581", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618317" }, "publicationId": "MIM:618317" }, "phenotypeStatement": "Adult onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:19918" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003581", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29910000" }, "publicationId": "PMID:29910000" }, "phenotypeStatement": "Adult onset", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:19918" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:139411" }, "publicationId": "ORPHA:139411" }, "phenotypeStatement": "Diarrhea", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10681" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619184" }, "publicationId": "MIM:619184" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:13655" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33308444" }, "publicationId": "PMID:33308444" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:13655" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:226307" }, "publicationId": "ORPHA:226307" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6000490", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620931" }, "publicationId": "MIM:620931" }, "phenotypeStatement": "Impaired heel-walking ability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6000490", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38422122" }, "publicationId": "PMID:38422122" }, "phenotypeStatement": "Impaired heel-walking ability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002039", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620931" }, "publicationId": "MIM:620931" }, "phenotypeStatement": "Anorexia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002039", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38422122" }, "publicationId": "PMID:38422122" }, "phenotypeStatement": "Anorexia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002384", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617935" }, "publicationId": "MIM:617935" }, "phenotypeStatement": "Focal impaired awareness seizure", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002384", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24157691" }, "publicationId": "PMID:24157691" }, "phenotypeStatement": "Focal impaired awareness seizure", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002384", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98820" }, "publicationId": "ORPHA:98820" }, "phenotypeStatement": "Focal impaired awareness seizure", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:10590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:271640" }, "publicationId": "MIM:271640" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23664117" }, "publicationId": "PMID:23664117" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618193" }, "publicationId": "MIM:618193" }, "phenotypeStatement": "Babinski sign", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15883308" }, "publicationId": "PMID:15883308" }, "phenotypeStatement": "Babinski sign", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:803" }, "publicationId": "ORPHA:803" }, "phenotypeStatement": "Babinski sign", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:17761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620065" }, "publicationId": "MIM:620065" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:20973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35907405" }, "publicationId": "PMID:35907405" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:20973" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003016", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608728" }, "publicationId": "MIM:608728" }, "phenotypeStatement": "Metaphyseal widening", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6909" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003016", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15121775" }, "publicationId": "PMID:15121775" }, "phenotypeStatement": "Metaphyseal widening", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6909" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617519" }, "publicationId": "MIM:617519" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14896" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33772159" }, "publicationId": "PMID:33772159" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:14896" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005403", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:233650" }, "publicationId": "MIM:233650" }, "phenotypeStatement": "Decreased total T cell count", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9832" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005403", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601457" }, "publicationId": "MIM:601457" }, "phenotypeStatement": "Decreased total T cell count", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9832" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005403", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:331206" }, "publicationId": "ORPHA:331206" }, "phenotypeStatement": "Decreased total T cell count", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9832" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003066", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:36387" }, "publicationId": "ORPHA:36387" }, "phenotypeStatement": "Limited knee extension", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:11018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032438", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Platelet anisocytosis", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:12013" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002857", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2462" }, "publicationId": "ORPHA:2462" }, "phenotypeStatement": "Genu valgum", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:220110" }, "publicationId": "MIM:220110" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10636738" }, "publicationId": "PMID:10636738" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:550" }, "publicationId": "ORPHA:550" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:551" }, "publicationId": "ORPHA:551" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:7497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:160900" }, "publicationId": "MIM:160900" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:2933" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613038" }, "publicationId": "MIM:613038" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:9210" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:35704" }, "publicationId": "ORPHA:35704" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:4175" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:605275" }, "publicationId": "MIM:605275" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29469822" }, "publicationId": "PMID:29469822" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30368668" }, "publicationId": "PMID:30368668" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616564" }, "publicationId": "MIM:616564" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30368668" }, "publicationId": "PMID:30368668" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:245600" }, "publicationId": "MIM:245600" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:42.000-06:00", "objectId": "HGNC:923" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002378", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620888" }, "publicationId": "MIM:620888" }, "phenotypeStatement": "Hand tremor", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002378", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38118446" }, "publicationId": "PMID:38118446" }, "phenotypeStatement": "Hand tremor", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:4669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614381" }, "publicationId": "MIM:614381" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:30348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28589944" }, "publicationId": "PMID:28589944" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:30348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619742" }, "publicationId": "MIM:619742" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:30348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33417887" }, "publicationId": "PMID:33417887" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:30348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:148050" }, "publicationId": "MIM:148050" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2332" }, "publicationId": "ORPHA:2332" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:193700" }, "publicationId": "MIM:193700" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7573" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2990" }, "publicationId": "ORPHA:2990" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:7573" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616331" }, "publicationId": "MIM:616331" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3084" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25817014" }, "publicationId": "PMID:25817014" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3084" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35047859" }, "publicationId": "PMID:35047859" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:3084" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618364" }, "publicationId": "MIM:618364" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:10596" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29726066" }, "publicationId": "PMID:29726066" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:10596" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:306" }, "publicationId": "ORPHA:306" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:10596" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:10596" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:352582" }, "publicationId": "ORPHA:352582" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:10596" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:135900" }, "publicationId": "MIM:135900" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1465" }, "publicationId": "ORPHA:1465" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:270450" }, "publicationId": "MIM:270450" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:5465" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:258480" }, "publicationId": "MIM:258480" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6080" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2746" }, "publicationId": "ORPHA:2746" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:6080" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614378" }, "publicationId": "MIM:614378" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22019273" }, "publicationId": "PMID:22019273" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1515" }, "publicationId": "ORPHA:1515" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:18340" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000194", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620937" }, "publicationId": "MIM:620937" }, "phenotypeStatement": "Open mouth", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000194", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35652444" }, "publicationId": "PMID:35652444" }, "phenotypeStatement": "Open mouth", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011344", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621012" }, "publicationId": "MIM:621012" }, "phenotypeStatement": "Severe global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011344", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39442041" }, "publicationId": "PMID:39442041" }, "phenotypeStatement": "Severe global developmental delay", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:259700" }, "publicationId": "MIM:259700" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11647" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10888887" }, "publicationId": "PMID:10888887" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:41.000-06:00", "objectId": "HGNC:11647" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:146110" }, "publicationId": "MIM:146110" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2025-04-16T12:18:46.000-05:00", "objectId": "HGNC:4419" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:432" }, "publicationId": "ORPHA:432" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2025-04-16T12:18:46.000-05:00", "objectId": "HGNC:4419" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614841" }, "publicationId": "MIM:614841" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2025-04-16T12:18:46.000-05:00", "objectId": "HGNC:4419" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:101400" }, "publicationId": "MIM:101400" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2025-04-16T12:18:46.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001627", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:794" }, "publicationId": "ORPHA:794" }, "phenotypeStatement": "Abnormal heart morphology", "dateAssigned": "2025-04-16T12:18:46.000-05:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615042" }, "publicationId": "MIM:615042" }, "phenotypeStatement": "Respiratory distress", "dateAssigned": "2025-04-16T12:18:46.000-05:00", "objectId": "HGNC:3006" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:329178" }, "publicationId": "ORPHA:329178" }, "phenotypeStatement": "Respiratory distress", "dateAssigned": "2025-04-16T12:18:46.000-05:00", "objectId": "HGNC:3006" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012332", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615548" }, "publicationId": "MIM:615548" }, "phenotypeStatement": "Abnormal autonomic nervous system physiology", "dateAssigned": "2025-04-16T12:18:46.000-05:00", "objectId": "HGNC:10583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012332", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615552" }, "publicationId": "MIM:615552" }, "phenotypeStatement": "Abnormal autonomic nervous system physiology", "dateAssigned": "2025-04-16T12:18:46.000-05:00", "objectId": "HGNC:10583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615807" }, "publicationId": "MIM:615807" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24389050" }, "publicationId": "PMID:24389050" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620819" }, "publicationId": "MIM:620819" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37055165" }, "publicationId": "PMID:37055165" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:90050" }, "publicationId": "ORPHA:90050" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:7678" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005425", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Recurrent sinopulmonary infections", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25678" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:130050" }, "publicationId": "MIM:130050" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:4023980" }, "publicationId": "PMID:4023980" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:286" }, "publicationId": "ORPHA:286" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002353", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:86814" }, "publicationId": "ORPHA:86814" }, "phenotypeStatement": "EEG abnormality", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16854" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:605275" }, "publicationId": "MIM:605275" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29469822" }, "publicationId": "PMID:29469822" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616038" }, "publicationId": "MIM:616038" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19129" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25152457" }, "publicationId": "PMID:25152457" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19129" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:284417" }, "publicationId": "ORPHA:284417" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19129" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:180700" }, "publicationId": "MIM:180700" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3107" }, "publicationId": "ORPHA:3107" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003307", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:273750" }, "publicationId": "MIM:273750" }, "phenotypeStatement": "Hyperlordosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003307", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25945256" }, "publicationId": "PMID:25945256" }, "phenotypeStatement": "Hyperlordosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003307", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33258289" }, "publicationId": "PMID:33258289" }, "phenotypeStatement": "Hyperlordosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003307", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2616" }, "publicationId": "ORPHA:2616" }, "phenotypeStatement": "Hyperlordosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609220" }, "publicationId": "MIM:609220" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9082" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2771" }, "publicationId": "ORPHA:2771" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9082" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:397590" }, "publicationId": "ORPHA:397590" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9045" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000954", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614800" }, "publicationId": "MIM:614800" }, "phenotypeStatement": "Single transverse palmar crease", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000954", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20577004" }, "publicationId": "PMID:20577004" }, "phenotypeStatement": "Single transverse palmar crease", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000678", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:268310" }, "publicationId": "MIM:268310" }, "phenotypeStatement": "Dental crowding", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601559" }, "publicationId": "MIM:601559" }, "phenotypeStatement": "Malar flattening", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615541" }, "publicationId": "MIM:615541" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26262" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21937992" }, "publicationId": "PMID:21937992" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26262" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1899" }, "publicationId": "ORPHA:1899" }, "phenotypeStatement": "Hip dislocation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:287" }, "publicationId": "ORPHA:287" }, "phenotypeStatement": "Hip dislocation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300321" }, "publicationId": "MIM:300321" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17632775" }, "publicationId": "PMID:17632775" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034465", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:204750" }, "publicationId": "MIM:204750" }, "phenotypeStatement": "2-hydroxyadipic aciduria", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23537" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034465", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23141293" }, "publicationId": "PMID:23141293" }, "phenotypeStatement": "2-hydroxyadipic aciduria", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23537" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0034465", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79154" }, "publicationId": "ORPHA:79154" }, "phenotypeStatement": "2-hydroxyadipic aciduria", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23537" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:576283" }, "publicationId": "ORPHA:576283" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:309282" }, "publicationId": "ORPHA:309282" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6826" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:309288" }, "publicationId": "ORPHA:309288" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6826" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616269" }, "publicationId": "MIM:616269" }, "phenotypeStatement": "Self-injurious behavior", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:31399" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25704603" }, "publicationId": "PMID:25704603" }, "phenotypeStatement": "Self-injurious behavior", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:31399" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609060" }, "publicationId": "MIM:609060" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:13780" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:137681" }, "publicationId": "ORPHA:137681" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:13780" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032438", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Platelet anisocytosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4439" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617396" }, "publicationId": "MIM:617396" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:30129" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001647", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613795" }, "publicationId": "MIM:613795" }, "phenotypeStatement": "Bicuspid aortic valve", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001647", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22167769" }, "publicationId": "PMID:22167769" }, "phenotypeStatement": "Bicuspid aortic valve", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001647", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Bicuspid aortic valve", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:222748" }, "publicationId": "MIM:222748" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3013" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20362666" }, "publicationId": "PMID:20362666" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3013" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:38874" }, "publicationId": "ORPHA:38874" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3013" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:277400" }, "publicationId": "MIM:277400" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16311595" }, "publicationId": "PMID:16311595" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611040" }, "publicationId": "MIM:611040" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17167404" }, "publicationId": "PMID:17167404" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619745" }, "publicationId": "MIM:619745" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34626534" }, "publicationId": "PMID:34626534" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010818", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620987" }, "publicationId": "MIM:620987" }, "phenotypeStatement": "Generalized tonic seizure", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010818", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38128568" }, "publicationId": "PMID:38128568" }, "phenotypeStatement": "Generalized tonic seizure", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001620", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:178345" }, "publicationId": "ORPHA:178345" }, "phenotypeStatement": "Abnormally high-pitched voice", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2594" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536467" }, "publicationId": "ORPHA:536467" }, "phenotypeStatement": "Low-set ears", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000010", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610443" }, "publicationId": "MIM:610443" }, "phenotypeStatement": "Recurrent urinary tract infections", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000010", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20301783" }, "publicationId": "PMID:20301783" }, "phenotypeStatement": "Recurrent urinary tract infections", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617830" }, "publicationId": "MIM:617830" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8032" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29100083" }, "publicationId": "PMID:29100083" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8032" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:179300" }, "publicationId": "MIM:179300" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31138930" }, "publicationId": "PMID:31138930" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617439" }, "publicationId": "MIM:617439" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614823" }, "publicationId": "MIM:614823" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22275001" }, "publicationId": "PMID:22275001" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011947", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Respiratory tract infection", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12760" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614651" }, "publicationId": "MIM:614651" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17332895" }, "publicationId": "PMID:17332895" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614078" }, "publicationId": "MIM:614078" }, "phenotypeStatement": "Knee dislocation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21549340" }, "publicationId": "PMID:21549340" }, "phenotypeStatement": "Knee dislocation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000268", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620908" }, "publicationId": "MIM:620908" }, "phenotypeStatement": "Dolichocephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000268", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36351433" }, "publicationId": "PMID:36351433" }, "phenotypeStatement": "Dolichocephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:602398" }, "publicationId": "MIM:602398" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29175559" }, "publicationId": "PMID:29175559" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011220", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:602875" }, "publicationId": "MIM:602875" }, "phenotypeStatement": "Prominent forehead", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011220", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:40" }, "publicationId": "ORPHA:40" }, "phenotypeStatement": "Prominent forehead", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7944" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616239" }, "publicationId": "MIM:616239" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26274" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25385316" }, "publicationId": "PMID:25385316" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26274" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:209900" }, "publicationId": "MIM:209900" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:966" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31997113" }, "publicationId": "PMID:31997113" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:966" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34262361" }, "publicationId": "PMID:34262361" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:966" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34526762" }, "publicationId": "PMID:34526762" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:966" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000444", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Convex nasal ridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610168" }, "publicationId": "MIM:610168" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15731757" }, "publicationId": "PMID:15731757" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16283890" }, "publicationId": "PMID:16283890" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18084123" }, "publicationId": "PMID:18084123" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19875893" }, "publicationId": "PMID:19875893" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20358619" }, "publicationId": "PMID:20358619" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24220024" }, "publicationId": "PMID:24220024" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28163941" }, "publicationId": "PMID:28163941" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28679693" }, "publicationId": "PMID:28679693" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32528524" }, "publicationId": "PMID:32528524" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618147" }, "publicationId": "MIM:618147" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1596" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30122539" }, "publicationId": "PMID:30122539" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1596" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620908" }, "publicationId": "MIM:620908" }, "phenotypeStatement": "Blue sclerae", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36351433" }, "publicationId": "PMID:36351433" }, "phenotypeStatement": "Blue sclerae", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012231", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620712" }, "publicationId": "MIM:620712" }, "phenotypeStatement": "Serous retinal detachment", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6913" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012231", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38141607" }, "publicationId": "PMID:38141607" }, "phenotypeStatement": "Serous retinal detachment", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6913" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:7" }, "publicationId": "ORPHA:7" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24641" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604377" }, "publicationId": "MIM:604377" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23838601" }, "publicationId": "PMID:23838601" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34746378" }, "publicationId": "PMID:34746378" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608908" }, "publicationId": "MIM:608908" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23643385" }, "publicationId": "PMID:23643385" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001251", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25525168" }, "publicationId": "PMID:25525168" }, "phenotypeStatement": "Ataxia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619576" }, "publicationId": "MIM:619576" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24662" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34089229" }, "publicationId": "PMID:34089229" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24662" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Angioedema", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11841556" }, "publicationId": "PMID:11841556" }, "phenotypeStatement": "Angioedema", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22089833" }, "publicationId": "PMID:22089833" }, "phenotypeStatement": "Angioedema", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22377713" }, "publicationId": "PMID:22377713" }, "phenotypeStatement": "Angioedema", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23802543" }, "publicationId": "PMID:23802543" }, "phenotypeStatement": "Angioedema", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100665", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31990481" }, "publicationId": "PMID:31990481" }, "phenotypeStatement": "Angioedema", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616007" }, "publicationId": "MIM:616007" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29685" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618870" }, "publicationId": "MIM:618870" }, "phenotypeStatement": "Midface retrusion", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27599773" }, "publicationId": "PMID:27599773" }, "phenotypeStatement": "Midface retrusion", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31705726" }, "publicationId": "PMID:31705726" }, "phenotypeStatement": "Midface retrusion", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614284" }, "publicationId": "MIM:614284" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21671392" }, "publicationId": "PMID:21671392" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000407", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:250984" }, "publicationId": "ORPHA:250984" }, "phenotypeStatement": "Sensorineural hearing impairment", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:253280" }, "publicationId": "MIM:253280" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19139" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:370959" }, "publicationId": "ORPHA:370959" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19139" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:899" }, "publicationId": "ORPHA:899" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19139" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619966" }, "publicationId": "MIM:619966" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23787" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35718349" }, "publicationId": "PMID:35718349" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23787" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:231070" }, "publicationId": "MIM:231070" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25676" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18997784" }, "publicationId": "PMID:18997784" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25676" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614120" }, "publicationId": "MIM:614120" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21552264" }, "publicationId": "PMID:21552264" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601718" }, "publicationId": "MIM:601718" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:34" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9070931" }, "publicationId": "PMID:9070931" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:34" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617168" }, "publicationId": "MIM:617168" }, "phenotypeStatement": "Ascending tubular aorta aneurysm", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6664" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26838787" }, "publicationId": "PMID:26838787" }, "phenotypeStatement": "Ascending tubular aorta aneurysm", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6664" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033605", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Pustular rash", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033605", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36165187" }, "publicationId": "PMID:36165187" }, "phenotypeStatement": "Pustular rash", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003201", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620971" }, "publicationId": "MIM:620971" }, "phenotypeStatement": "Rhabdomyolysis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3057" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003201", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36799992" }, "publicationId": "PMID:36799992" }, "phenotypeStatement": "Rhabdomyolysis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3057" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:216550" }, "publicationId": "MIM:216550" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12446373" }, "publicationId": "PMID:12446373" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29149870" }, "publicationId": "PMID:29149870" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:193" }, "publicationId": "ORPHA:193" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616914" }, "publicationId": "MIM:616914" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20979188" }, "publicationId": "PMID:20979188" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2462" }, "publicationId": "ORPHA:2462" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001537", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300989" }, "publicationId": "MIM:300989" }, "phenotypeStatement": "Umbilical hernia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1044" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001537", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27632686" }, "publicationId": "PMID:27632686" }, "phenotypeStatement": "Umbilical hernia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1044" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003016", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:251450" }, "publicationId": "MIM:251450" }, "phenotypeStatement": "Metaphyseal widening", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17272" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000238", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Hydrocephalus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25678" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:635" }, "publicationId": "ORPHA:635" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7559" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001629", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610443" }, "publicationId": "MIM:610443" }, "phenotypeStatement": "Ventricular septal defect", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001629", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19447831" }, "publicationId": "PMID:19447831" }, "phenotypeStatement": "Ventricular septal defect", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620908" }, "publicationId": "MIM:620908" }, "phenotypeStatement": "Synophrys", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36351433" }, "publicationId": "PMID:36351433" }, "phenotypeStatement": "Synophrys", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001000", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Abnormality of skin pigmentation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3584" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601321" }, "publicationId": "MIM:601321" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7765" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033981", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620908" }, "publicationId": "MIM:620908" }, "phenotypeStatement": "Vertebral artery tortuosity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033981", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36351433" }, "publicationId": "PMID:36351433" }, "phenotypeStatement": "Vertebral artery tortuosity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611561" }, "publicationId": "MIM:611561" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29168" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17558409" }, "publicationId": "PMID:17558409" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29168" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:220497" }, "publicationId": "ORPHA:220497" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29168" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:564" }, "publicationId": "ORPHA:564" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29168" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008994", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:253300" }, "publicationId": "MIM:253300" }, "phenotypeStatement": "Proximal lower limb muscle weakness", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11117" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620939" }, "publicationId": "MIM:620939" }, "phenotypeStatement": "Patent ductus arteriosus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29784638" }, "publicationId": "PMID:29784638" }, "phenotypeStatement": "Patent ductus arteriosus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615206" }, "publicationId": "MIM:615206" }, "phenotypeStatement": "Decreased regulatory T cell proportion", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:16393" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0020113", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23561803" }, "publicationId": "PMID:23561803" }, "phenotypeStatement": "Decreased regulatory T cell proportion", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:16393" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613563" }, "publicationId": "MIM:613563" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1541" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20543203" }, "publicationId": "PMID:20543203" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1541" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618870" }, "publicationId": "MIM:618870" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31705726" }, "publicationId": "PMID:31705726" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000771", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621010" }, "publicationId": "MIM:621010" }, "phenotypeStatement": "Gynecomastia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000771", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39106866" }, "publicationId": "PMID:39106866" }, "phenotypeStatement": "Gynecomastia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:184840" }, "publicationId": "MIM:184840" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15372529" }, "publicationId": "PMID:15372529" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2021" }, "publicationId": "ORPHA:2021" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:215150" }, "publicationId": "MIM:215150" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7859284" }, "publicationId": "PMID:7859284" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1427" }, "publicationId": "ORPHA:1427" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040226", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98434" }, "publicationId": "ORPHA:98434" }, "phenotypeStatement": "Decreased level of heparin co-factor II", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:274000" }, "publicationId": "MIM:274000" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3320" }, "publicationId": "ORPHA:3320" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9905" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:231050" }, "publicationId": "MIM:231050" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21415077" }, "publicationId": "PMID:21415077" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2623" }, "publicationId": "ORPHA:2623" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:502" }, "publicationId": "ORPHA:502" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3512" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012469", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619701" }, "publicationId": "MIM:619701" }, "phenotypeStatement": "Infantile spasms", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012469", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34800363" }, "publicationId": "PMID:34800363" }, "phenotypeStatement": "Infantile spasms", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100653", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:254886" }, "publicationId": "ORPHA:254886" }, "phenotypeStatement": "Optic neuritis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010626", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301132" }, "publicationId": "MIM:301132" }, "phenotypeStatement": "Anterior pituitary agenesis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010626", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38158857" }, "publicationId": "PMID:38158857" }, "phenotypeStatement": "Anterior pituitary agenesis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025671", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301127" }, "publicationId": "MIM:301127" }, "phenotypeStatement": "Fetal pericardial effusion", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19073" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025671", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34976470" }, "publicationId": "PMID:34976470" }, "phenotypeStatement": "Fetal pericardial effusion", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19073" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:397715" }, "publicationId": "ORPHA:397715" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19960" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002188", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Delayed CNS myelination", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002188", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29040572" }, "publicationId": "PMID:29040572" }, "phenotypeStatement": "Delayed CNS myelination", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002188", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33348459" }, "publicationId": "PMID:33348459" }, "phenotypeStatement": "Delayed CNS myelination", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616413" }, "publicationId": "MIM:616413" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12827" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25938945" }, "publicationId": "PMID:25938945" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12827" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620985" }, "publicationId": "MIM:620985" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38702431" }, "publicationId": "PMID:38702431" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:158000" }, "publicationId": "MIM:158000" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6458" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002069", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Bilateral tonic-clonic seizure", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18756" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002069", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2131" }, "publicationId": "ORPHA:2131" }, "phenotypeStatement": "Bilateral tonic-clonic seizure", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18756" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002647", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Aortic dissection", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613795" }, "publicationId": "MIM:613795" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21217753" }, "publicationId": "PMID:21217753" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21778426" }, "publicationId": "PMID:21778426" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29392890" }, "publicationId": "PMID:29392890" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32154675" }, "publicationId": "PMID:32154675" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:284984" }, "publicationId": "ORPHA:284984" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:245300" }, "publicationId": "MIM:245300" }, "phenotypeStatement": "Neurodegeneration", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9449" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000978", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Bruising susceptibility", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620780" }, "publicationId": "MIM:620780" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31792352" }, "publicationId": "PMID:31792352" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32006683" }, "publicationId": "PMID:32006683" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33807164" }, "publicationId": "PMID:33807164" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:278250" }, "publicationId": "MIM:278250" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2834" }, "publicationId": "ORPHA:2834" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:357074" }, "publicationId": "ORPHA:357074" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18481" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:114500" }, "publicationId": "MIM:114500" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6935" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011172", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:306" }, "publicationId": "ORPHA:306" }, "phenotypeStatement": "Complex febrile seizure", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10596" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:216100" }, "publicationId": "MIM:216100" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:27230" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:268300" }, "publicationId": "MIM:268300" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:27230" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15821733" }, "publicationId": "PMID:15821733" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:27230" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001363", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609192" }, "publicationId": "MIM:609192" }, "phenotypeStatement": "Craniosynostosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001363", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15731757" }, "publicationId": "PMID:15731757" }, "phenotypeStatement": "Craniosynostosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001363", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16596670" }, "publicationId": "PMID:16596670" }, "phenotypeStatement": "Craniosynostosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001363", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16928994" }, "publicationId": "PMID:16928994" }, "phenotypeStatement": "Craniosynostosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001363", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31475485" }, "publicationId": "PMID:31475485" }, "phenotypeStatement": "Craniosynostosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001363", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Craniosynostosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619750" }, "publicationId": "MIM:619750" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33517393" }, "publicationId": "PMID:33517393" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:226307" }, "publicationId": "ORPHA:226307" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9455" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620953" }, "publicationId": "MIM:620953" }, "phenotypeStatement": "Coma", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18385497" }, "publicationId": "PMID:18385497" }, "phenotypeStatement": "Coma", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613794" }, "publicationId": "MIM:613794" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9326941" }, "publicationId": "PMID:9326941" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000169", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:204690" }, "publicationId": "MIM:204690" }, "phenotypeStatement": "Gingival fibromatosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23015" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000169", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21549343" }, "publicationId": "PMID:21549343" }, "phenotypeStatement": "Gingival fibromatosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23015" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000169", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1031" }, "publicationId": "ORPHA:1031" }, "phenotypeStatement": "Gingival fibromatosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23015" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617088" }, "publicationId": "MIM:617088" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26130459" }, "publicationId": "PMID:26130459" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24595" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002013", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621010" }, "publicationId": "MIM:621010" }, "phenotypeStatement": "Vomiting", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002013", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39106866" }, "publicationId": "PMID:39106866" }, "phenotypeStatement": "Vomiting", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616732" }, "publicationId": "MIM:616732" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18647" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26593267" }, "publicationId": "PMID:26593267" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18647" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002381", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1713" }, "publicationId": "ORPHA:1713" }, "phenotypeStatement": "Aphasia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610733" }, "publicationId": "MIM:610733" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18925667" }, "publicationId": "PMID:18925667" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025066", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613566" }, "publicationId": "MIM:613566" }, "phenotypeStatement": "Decreased mean corpuscular volume", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025066", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20676099" }, "publicationId": "PMID:20676099" }, "phenotypeStatement": "Decreased mean corpuscular volume", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:35099" }, "publicationId": "ORPHA:35099" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12428" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613464" }, "publicationId": "MIM:613464" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20451172" }, "publicationId": "PMID:20451172" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:142945" }, "publicationId": "MIM:142945" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:280195" }, "publicationId": "ORPHA:280195" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:220386" }, "publicationId": "ORPHA:220386" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:280200" }, "publicationId": "ORPHA:280200" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93926" }, "publicationId": "ORPHA:93926" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93924" }, "publicationId": "ORPHA:93924" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93925" }, "publicationId": "ORPHA:93925" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10848" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21699" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005528", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611291" }, "publicationId": "MIM:611291" }, "phenotypeStatement": "Bone marrow hypocellularity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25737" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005528", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37703920" }, "publicationId": "PMID:37703920" }, "phenotypeStatement": "Bone marrow hypocellularity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25737" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1513" }, "publicationId": "ORPHA:1513" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17321" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620987" }, "publicationId": "MIM:620987" }, "phenotypeStatement": "Low-set ears", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38128568" }, "publicationId": "PMID:38128568" }, "phenotypeStatement": "Low-set ears", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:243700" }, "publicationId": "MIM:243700" }, "phenotypeStatement": "Decreased CD4+ T cell proportion", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19776401" }, "publicationId": "PMID:19776401" }, "phenotypeStatement": "Decreased CD4+ T cell proportion", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19191" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614756" }, "publicationId": "MIM:614756" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18806" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22693284" }, "publicationId": "PMID:22693284" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18806" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:314647" }, "publicationId": "ORPHA:314647" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18806" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613671" }, "publicationId": "MIM:613671" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29256" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17618476" }, "publicationId": "PMID:17618476" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29256" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618644" }, "publicationId": "MIM:618644" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:13520" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31564437" }, "publicationId": "PMID:31564437" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:13520" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608415" }, "publicationId": "MIM:608415" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10004" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14702087" }, "publicationId": "PMID:14702087" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10004" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000023", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620780" }, "publicationId": "MIM:620780" }, "phenotypeStatement": "Inguinal hernia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000023", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31792352" }, "publicationId": "PMID:31792352" }, "phenotypeStatement": "Inguinal hernia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000023", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32006683" }, "publicationId": "PMID:32006683" }, "phenotypeStatement": "Inguinal hernia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000023", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33807164" }, "publicationId": "PMID:33807164" }, "phenotypeStatement": "Inguinal hernia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002647", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618343" }, "publicationId": "MIM:618343" }, "phenotypeStatement": "Aortic dissection", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002647", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:286" }, "publicationId": "ORPHA:286" }, "phenotypeStatement": "Aortic dissection", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002647", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231160" }, "publicationId": "ORPHA:231160" }, "phenotypeStatement": "Aortic dissection", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000327", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300106" }, "publicationId": "MIM:300106" }, "phenotypeStatement": "Hypoplasia of the maxilla", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1044" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012005", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98820" }, "publicationId": "ORPHA:98820" }, "phenotypeStatement": "Deja vu aura", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001647", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610443" }, "publicationId": "MIM:610443" }, "phenotypeStatement": "Bicuspid aortic valve", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001647", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20301783" }, "publicationId": "PMID:20301783" }, "phenotypeStatement": "Bicuspid aortic valve", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001332", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620987" }, "publicationId": "MIM:620987" }, "phenotypeStatement": "Dystonia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001332", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38128568" }, "publicationId": "PMID:38128568" }, "phenotypeStatement": "Dystonia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001336", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Myoclonus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18756" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:127550" }, "publicationId": "MIM:127550" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11727" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11574891" }, "publicationId": "PMID:11574891" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11727" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614743" }, "publicationId": "MIM:614743" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11727" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001394", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1775" }, "publicationId": "ORPHA:1775" }, "phenotypeStatement": "Cirrhosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11727" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614613" }, "publicationId": "MIM:614613" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:8783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:180849" }, "publicationId": "MIM:180849" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618332" }, "publicationId": "MIM:618332" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29460469" }, "publicationId": "PMID:29460469" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:592574" }, "publicationId": "ORPHA:592574" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003345", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:29072" }, "publicationId": "ORPHA:29072" }, "phenotypeStatement": "Elevated urinary norepinephrine level", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:304110" }, "publicationId": "MIM:304110" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3226" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1520" }, "publicationId": "ORPHA:1520" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3226" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1782" }, "publicationId": "ORPHA:1782" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23096" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:225500" }, "publicationId": "MIM:225500" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:898" }, "publicationId": "ORPHA:898" }, "phenotypeStatement": "Ectopic fovea", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:273750" }, "publicationId": "MIM:273750" }, "phenotypeStatement": "Frontal bossing", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33258289" }, "publicationId": "PMID:33258289" }, "phenotypeStatement": "Frontal bossing", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2616" }, "publicationId": "ORPHA:2616" }, "phenotypeStatement": "Frontal bossing", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256050" }, "publicationId": "MIM:256050" }, "phenotypeStatement": "Midface retrusion", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:56304" }, "publicationId": "ORPHA:56304" }, "phenotypeStatement": "Midface retrusion", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011800", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:628" }, "publicationId": "ORPHA:628" }, "phenotypeStatement": "Midface retrusion", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000954", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:305400" }, "publicationId": "MIM:305400" }, "phenotypeStatement": "Single transverse palmar crease", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000954", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11093277" }, "publicationId": "PMID:11093277" }, "phenotypeStatement": "Single transverse palmar crease", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000954", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20082460" }, "publicationId": "PMID:20082460" }, "phenotypeStatement": "Single transverse palmar crease", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000954", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:915" }, "publicationId": "ORPHA:915" }, "phenotypeStatement": "Single transverse palmar crease", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:567" }, "publicationId": "ORPHA:567" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10449" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617164" }, "publicationId": "MIM:617164" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:649" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27476655" }, "publicationId": "PMID:27476655" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:649" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:321" }, "publicationId": "ORPHA:321" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3512" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002027", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:139411" }, "publicationId": "ORPHA:139411" }, "phenotypeStatement": "Abdominal pain", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10682" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002027", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:97286" }, "publicationId": "ORPHA:97286" }, "phenotypeStatement": "Abdominal pain", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10682" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:260400" }, "publicationId": "MIM:260400" }, "phenotypeStatement": "Neonatal respiratory distress", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:27030" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1260" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2363" }, "publicationId": "ORPHA:2363" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3666" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256040" }, "publicationId": "MIM:256040" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9545" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20534754" }, "publicationId": "PMID:20534754" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9545" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:136880" }, "publicationId": "MIM:136880" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:228520" }, "publicationId": "MIM:228520" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611291" }, "publicationId": "MIM:611291" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25737" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37703920" }, "publicationId": "PMID:37703920" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25737" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012469", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620937" }, "publicationId": "MIM:620937" }, "phenotypeStatement": "Infantile spasms", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012469", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25233840" }, "publicationId": "PMID:25233840" }, "phenotypeStatement": "Infantile spasms", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614856" }, "publicationId": "MIM:614856" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1067" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22052668" }, "publicationId": "PMID:22052668" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1067" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620923" }, "publicationId": "MIM:620923" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38614108" }, "publicationId": "PMID:38614108" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38858457" }, "publicationId": "PMID:38858457" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620937" }, "publicationId": "MIM:620937" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25233840" }, "publicationId": "PMID:25233840" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616389" }, "publicationId": "MIM:616389" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4393" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26472407" }, "publicationId": "PMID:26472407" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4393" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3107" }, "publicationId": "ORPHA:3107" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617405" }, "publicationId": "MIM:617405" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:28482" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26044572" }, "publicationId": "PMID:26044572" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:28482" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:225500" }, "publicationId": "MIM:225500" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:289" }, "publicationId": "ORPHA:289" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:952" }, "publicationId": "ORPHA:952" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001417", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301137" }, "publicationId": "MIM:301137" }, "phenotypeStatement": "X-linked inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9890" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001417", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35809576" }, "publicationId": "PMID:35809576" }, "phenotypeStatement": "X-linked inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9890" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002666", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:139411" }, "publicationId": "ORPHA:139411" }, "phenotypeStatement": "Pheochromocytoma", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10681" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011947", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Respiratory tract infection", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18661" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614613" }, "publicationId": "MIM:614613" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22464250" }, "publicationId": "PMID:22464250" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:439822" }, "publicationId": "ORPHA:439822" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:950" }, "publicationId": "ORPHA:950" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:125350" }, "publicationId": "MIM:125350" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9608" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2750" }, "publicationId": "ORPHA:2750" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:602083" }, "publicationId": "MIM:602083" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18719945" }, "publicationId": "PMID:18719945" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231169" }, "publicationId": "ORPHA:231169" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14674" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:447980" }, "publicationId": "ORPHA:447980" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7788" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000954", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79243" }, "publicationId": "ORPHA:79243" }, "phenotypeStatement": "Single transverse palmar crease", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9479" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619150" }, "publicationId": "MIM:619150" }, "phenotypeStatement": "Paroxysmal dyskinesia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8777" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29392776" }, "publicationId": "PMID:29392776" }, "phenotypeStatement": "Paroxysmal dyskinesia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8777" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32467598" }, "publicationId": "PMID:32467598" }, "phenotypeStatement": "Paroxysmal dyskinesia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8777" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Sparse scalp hair", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14906" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:56304" }, "publicationId": "ORPHA:56304" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93298" }, "publicationId": "ORPHA:93298" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000311", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610489" }, "publicationId": "MIM:610489" }, "phenotypeStatement": "Round face", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001669", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Transposition of the great arteries", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18661" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:157800" }, "publicationId": "MIM:157800" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29467388" }, "publicationId": "PMID:29467388" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:251450" }, "publicationId": "MIM:251450" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7977470" }, "publicationId": "PMID:7977470" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1425" }, "publicationId": "ORPHA:1425" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19721" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620962" }, "publicationId": "MIM:620962" }, "phenotypeStatement": "Hepatic fibrosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39132680" }, "publicationId": "PMID:39132680" }, "phenotypeStatement": "Hepatic fibrosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:152700" }, "publicationId": "MIM:152700" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9796581" }, "publicationId": "PMID:9796581" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536" }, "publicationId": "ORPHA:536" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2956" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618870" }, "publicationId": "MIM:618870" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27599773" }, "publicationId": "PMID:27599773" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621010" }, "publicationId": "MIM:621010" }, "phenotypeStatement": "Decreased body weight", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004325", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39106866" }, "publicationId": "PMID:39106866" }, "phenotypeStatement": "Decreased body weight", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:245600" }, "publicationId": "MIM:245600" }, "phenotypeStatement": "Hip dislocation", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:923" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004942", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Aortic aneurysm", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:227645" }, "publicationId": "MIM:227645" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3584" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3584" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:303100" }, "publicationId": "MIM:303100" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17698759" }, "publicationId": "PMID:17698759" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:180" }, "publicationId": "ORPHA:180" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009881", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610168" }, "publicationId": "MIM:610168" }, "phenotypeStatement": "Aplasia of distal finger phalanx", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:166250" }, "publicationId": "MIM:166250" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3688" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15625620" }, "publicationId": "PMID:15625620" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3688" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16470795" }, "publicationId": "PMID:16470795" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3688" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2645" }, "publicationId": "ORPHA:2645" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3688" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618529" }, "publicationId": "MIM:618529" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18008" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29276006" }, "publicationId": "PMID:29276006" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18008" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1507" }, "publicationId": "ORPHA:1507" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18008" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2554" }, "publicationId": "ORPHA:2554" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1739" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008947", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:33572" }, "publicationId": "ORPHA:33572" }, "phenotypeStatement": "Floppy infant", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:8149" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003213", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:227645" }, "publicationId": "MIM:227645" }, "phenotypeStatement": "Deficient excision of UV-induced pyrimidine dimers in DNA", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3584" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:154700" }, "publicationId": "MIM:154700" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:284979" }, "publicationId": "ORPHA:284979" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2462" }, "publicationId": "ORPHA:2462" }, "phenotypeStatement": "Micrognathia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:502" }, "publicationId": "ORPHA:502" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3512" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619472" }, "publicationId": "MIM:619472" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9853" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33875846" }, "publicationId": "PMID:33875846" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9853" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000341", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620985" }, "publicationId": "MIM:620985" }, "phenotypeStatement": "Narrow forehead", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000341", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38815585" }, "publicationId": "PMID:38815585" }, "phenotypeStatement": "Narrow forehead", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009803", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609441" }, "publicationId": "MIM:609441" }, "phenotypeStatement": "Short phalanx of finger", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1077" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009803", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15805157" }, "publicationId": "PMID:15805157" }, "phenotypeStatement": "Short phalanx of finger", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1077" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000739", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33348459" }, "publicationId": "PMID:33348459" }, "phenotypeStatement": "Anxiety", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1515" }, "publicationId": "ORPHA:1515" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000575", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616505" }, "publicationId": "MIM:616505" }, "phenotypeStatement": "Scotoma", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25198" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000575", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26168012" }, "publicationId": "PMID:26168012" }, "phenotypeStatement": "Scotoma", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25198" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:225400" }, "publicationId": "MIM:225400" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9081" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23056730" }, "publicationId": "PMID:23056730" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9081" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1900" }, "publicationId": "ORPHA:1900" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9081" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612556" }, "publicationId": "MIM:612556" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:13633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10918532" }, "publicationId": "PMID:10918532" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:13633" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620985" }, "publicationId": "MIM:620985" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38702431" }, "publicationId": "PMID:38702431" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3303" }, "publicationId": "ORPHA:3303" }, "phenotypeStatement": "Broad forehead", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1987" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003623", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616269" }, "publicationId": "MIM:616269" }, "phenotypeStatement": "Neonatal onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:31399" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003623", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25704603" }, "publicationId": "PMID:25704603" }, "phenotypeStatement": "Neonatal onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:31399" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609220" }, "publicationId": "MIM:609220" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9082" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617698" }, "publicationId": "MIM:617698" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23656" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27573165" }, "publicationId": "PMID:27573165" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23656" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:505216" }, "publicationId": "ORPHA:505216" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23656" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:259770" }, "publicationId": "MIM:259770" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:891" }, "publicationId": "ORPHA:891" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003688", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619046" }, "publicationId": "MIM:619046" }, "phenotypeStatement": "Cytochrome C oxidase-negative muscle fibers", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2260" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003688", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10767350" }, "publicationId": "PMID:10767350" }, "phenotypeStatement": "Cytochrome C oxidase-negative muscle fibers", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2260" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003688", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12928484" }, "publicationId": "PMID:12928484" }, "phenotypeStatement": "Cytochrome C oxidase-negative muscle fibers", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2260" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003688", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15455402" }, "publicationId": "PMID:15455402" }, "phenotypeStatement": "Cytochrome C oxidase-negative muscle fibers", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2260" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001166", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536532" }, "publicationId": "ORPHA:536532" }, "phenotypeStatement": "Arachnodactyly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618173" }, "publicationId": "MIM:618173" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:694" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26964041" }, "publicationId": "PMID:26964041" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:694" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30932721" }, "publicationId": "PMID:30932721" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:694" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:694" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:163950" }, "publicationId": "MIM:163950" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6840" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12634870" }, "publicationId": "PMID:12634870" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6840" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1340" }, "publicationId": "ORPHA:1340" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6840" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008997", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301075" }, "publicationId": "MIM:301075" }, "phenotypeStatement": "Proximal upper limb muscle weakness", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008997", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33974137" }, "publicationId": "PMID:33974137" }, "phenotypeStatement": "Proximal upper limb muscle weakness", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11122" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001377", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:154700" }, "publicationId": "MIM:154700" }, "phenotypeStatement": "Limited elbow extension", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001377", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28050285" }, "publicationId": "PMID:28050285" }, "phenotypeStatement": "Limited elbow extension", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001377", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33436942" }, "publicationId": "PMID:33436942" }, "phenotypeStatement": "Limited elbow extension", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:113500" }, "publicationId": "MIM:113500" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18587396" }, "publicationId": "PMID:18587396" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:184252" }, "publicationId": "MIM:184252" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19232556" }, "publicationId": "PMID:19232556" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93314" }, "publicationId": "ORPHA:93314" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:156530" }, "publicationId": "MIM:156530" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19232556" }, "publicationId": "PMID:19232556" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20577006" }, "publicationId": "PMID:20577006" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617383" }, "publicationId": "MIM:617383" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27330106" }, "publicationId": "PMID:27330106" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93304" }, "publicationId": "ORPHA:93304" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:184095" }, "publicationId": "MIM:184095" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14755468" }, "publicationId": "PMID:14755468" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610246" }, "publicationId": "MIM:610246" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20208537" }, "publicationId": "PMID:20208537" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618977" }, "publicationId": "MIM:618977" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32600459" }, "publicationId": "PMID:32600459" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012378", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231178" }, "publicationId": "ORPHA:231178" }, "phenotypeStatement": "Fatigue", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001199", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Triphalangeal thumb", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:146000" }, "publicationId": "MIM:146000" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10777366" }, "publicationId": "PMID:10777366" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:187600" }, "publicationId": "MIM:187600" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21253318" }, "publicationId": "PMID:21253318" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:15" }, "publicationId": "ORPHA:15" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:208050" }, "publicationId": "MIM:208050" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:13444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17935213" }, "publicationId": "PMID:17935213" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:13444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002757", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613418" }, "publicationId": "MIM:613418" }, "phenotypeStatement": "Recurrent fractures", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:38221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002757", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19920351" }, "publicationId": "PMID:19920351" }, "phenotypeStatement": "Recurrent fractures", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:38221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:277170" }, "publicationId": "MIM:277170" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20512146" }, "publicationId": "PMID:20512146" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614615" }, "publicationId": "MIM:614615" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22425360" }, "publicationId": "PMID:22425360" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610478" }, "publicationId": "MIM:610478" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:20202" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:121050" }, "publicationId": "MIM:121050" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10797416" }, "publicationId": "PMID:10797416" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11754102" }, "publicationId": "PMID:11754102" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30147916" }, "publicationId": "PMID:30147916" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7493032" }, "publicationId": "PMID:7493032" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7815423" }, "publicationId": "PMID:7815423" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8900230" }, "publicationId": "PMID:8900230" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9106527" }, "publicationId": "PMID:9106527" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9199560" }, "publicationId": "PMID:9199560" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9714438" }, "publicationId": "PMID:9714438" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9737771" }, "publicationId": "PMID:9737771" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:115" }, "publicationId": "ORPHA:115" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:277450" }, "publicationId": "MIM:277450" }, "phenotypeStatement": "Reduced protein C activity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9845520" }, "publicationId": "PMID:9845520" }, "phenotypeStatement": "Reduced protein C activity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98434" }, "publicationId": "ORPHA:98434" }, "phenotypeStatement": "Reduced protein C activity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004383", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:402075" }, "publicationId": "ORPHA:402075" }, "phenotypeStatement": "Hypoplastic left ventricle", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17985" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030880", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:152700" }, "publicationId": "MIM:152700" }, "phenotypeStatement": "Raynaud phenomenon", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3616" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030880", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9796581" }, "publicationId": "PMID:9796581" }, "phenotypeStatement": "Raynaud phenomenon", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3616" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008897", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300882" }, "publicationId": "MIM:300882" }, "phenotypeStatement": "Postnatal growth retardation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:13315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003200", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620647" }, "publicationId": "MIM:620647" }, "phenotypeStatement": "Ragged-red muscle fibers", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003200", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35617047" }, "publicationId": "PMID:35617047" }, "phenotypeStatement": "Ragged-red muscle fibers", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003200", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:254886" }, "publicationId": "ORPHA:254886" }, "phenotypeStatement": "Ragged-red muscle fibers", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:259600" }, "publicationId": "MIM:259600" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24637309" }, "publicationId": "PMID:24637309" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7166" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:236200" }, "publicationId": "MIM:236200" }, "phenotypeStatement": "Kyphoscoliosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26667307" }, "publicationId": "PMID:26667307" }, "phenotypeStatement": "Kyphoscoliosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006487", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2462" }, "publicationId": "ORPHA:2462" }, "phenotypeStatement": "Bowing of the long bones", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79255" }, "publicationId": "ORPHA:79255" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4298" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:152950" }, "publicationId": "MIM:152950" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22284827" }, "publicationId": "PMID:22284827" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6388" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:603736" }, "publicationId": "MIM:603736" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:86814" }, "publicationId": "ORPHA:86814" }, "phenotypeStatement": "Headache", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11969" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:603467" }, "publicationId": "MIM:603467" }, "phenotypeStatement": "Anemia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3587" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31288759" }, "publicationId": "PMID:31288759" }, "phenotypeStatement": "Anemia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3587" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Anemia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3587" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:602088" }, "publicationId": "MIM:602088" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17870" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12872123" }, "publicationId": "PMID:12872123" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17870" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:364055" }, "publicationId": "ORPHA:364055" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6685" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6685" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613767" }, "publicationId": "MIM:613767" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2151" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11379879" }, "publicationId": "PMID:11379879" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2151" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012554", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Absent thumbnail", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18756" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620029" }, "publicationId": "MIM:620029" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1390" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30513141" }, "publicationId": "PMID:30513141" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1390" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231178" }, "publicationId": "ORPHA:231178" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:16361" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:304120" }, "publicationId": "MIM:304120" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:90650" }, "publicationId": "ORPHA:90650" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:90652" }, "publicationId": "ORPHA:90652" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620923" }, "publicationId": "MIM:620923" }, "phenotypeStatement": "Resting tremor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38614108" }, "publicationId": "PMID:38614108" }, "phenotypeStatement": "Resting tremor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002322", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38858457" }, "publicationId": "PMID:38858457" }, "phenotypeStatement": "Resting tremor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001634", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618000" }, "publicationId": "MIM:618000" }, "phenotypeStatement": "Mitral valve prolapse", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001634", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29606302" }, "publicationId": "PMID:29606302" }, "phenotypeStatement": "Mitral valve prolapse", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001634", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30548383" }, "publicationId": "PMID:30548383" }, "phenotypeStatement": "Mitral valve prolapse", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001634", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536532" }, "publicationId": "ORPHA:536532" }, "phenotypeStatement": "Mitral valve prolapse", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006298", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Prolonged bleeding after dental extraction", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12410" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617988" }, "publicationId": "MIM:617988" }, "phenotypeStatement": "Tetraparesis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38118446" }, "publicationId": "PMID:38118446" }, "phenotypeStatement": "Tetraparesis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608091" }, "publicationId": "MIM:608091" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:90050" }, "publicationId": "ORPHA:90050" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620228" }, "publicationId": "MIM:620228" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10521" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28549094" }, "publicationId": "PMID:28549094" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10521" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002396", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:254886" }, "publicationId": "ORPHA:254886" }, "phenotypeStatement": "Cogwheel rigidity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:65" }, "publicationId": "ORPHA:65" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613750" }, "publicationId": "MIM:613750" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8002" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10192380" }, "publicationId": "PMID:10192380" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8002" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620984" }, "publicationId": "MIM:620984" }, "phenotypeStatement": "Bronchiectasis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002110", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38626355" }, "publicationId": "PMID:38626355" }, "phenotypeStatement": "Bronchiectasis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614816" }, "publicationId": "MIM:614816" }, "phenotypeStatement": "Hyperextensible skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25163805" }, "publicationId": "PMID:25163805" }, "phenotypeStatement": "Hyperextensible skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601552" }, "publicationId": "MIM:601552" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:757" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30194805" }, "publicationId": "PMID:30194805" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:757" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616145" }, "publicationId": "MIM:616145" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20324" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25480037" }, "publicationId": "PMID:25480037" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20324" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1388" }, "publicationId": "ORPHA:1388" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20324" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610442" }, "publicationId": "MIM:610442" }, "phenotypeStatement": "Advanced ossification of carpal bones", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27213289" }, "publicationId": "PMID:27213289" }, "phenotypeStatement": "Advanced ossification of carpal bones", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000876", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604367" }, "publicationId": "MIM:604367" }, "phenotypeStatement": "Oligomenorrhea", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9236" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000876", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10622252" }, "publicationId": "PMID:10622252" }, "phenotypeStatement": "Oligomenorrhea", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9236" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000876", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79083" }, "publicationId": "ORPHA:79083" }, "phenotypeStatement": "Oligomenorrhea", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9236" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619934" }, "publicationId": "MIM:619934" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15840" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29276005" }, "publicationId": "PMID:29276005" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15840" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:117550" }, "publicationId": "MIM:117550" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28328121" }, "publicationId": "PMID:28328121" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29142766" }, "publicationId": "PMID:29142766" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:628" }, "publicationId": "ORPHA:628" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001761", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621010" }, "publicationId": "MIM:621010" }, "phenotypeStatement": "Pes cavus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001761", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39106866" }, "publicationId": "PMID:39106866" }, "phenotypeStatement": "Pes cavus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620987" }, "publicationId": "MIM:620987" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38128568" }, "publicationId": "PMID:38128568" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Speech apraxia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29040572" }, "publicationId": "PMID:29040572" }, "phenotypeStatement": "Speech apraxia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620985" }, "publicationId": "MIM:620985" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38702431" }, "publicationId": "PMID:38702431" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001719", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Double outlet right ventricle", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12760" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000527", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620987" }, "publicationId": "MIM:620987" }, "phenotypeStatement": "Long eyelashes", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000527", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38128568" }, "publicationId": "PMID:38128568" }, "phenotypeStatement": "Long eyelashes", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000738", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:181500" }, "publicationId": "MIM:181500" }, "phenotypeStatement": "Hallucinations", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2228" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000575", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601414" }, "publicationId": "MIM:601414" }, "phenotypeStatement": "Scotoma", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011172", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:306" }, "publicationId": "ORPHA:306" }, "phenotypeStatement": "Complex febrile seizure", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011172", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:33069" }, "publicationId": "ORPHA:33069" }, "phenotypeStatement": "Complex febrile seizure", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231140" }, "publicationId": "ORPHA:231140" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:5466" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003798", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621010" }, "publicationId": "MIM:621010" }, "phenotypeStatement": "Nemaline bodies", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003798", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39106866" }, "publicationId": "PMID:39106866" }, "phenotypeStatement": "Nemaline bodies", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:180700" }, "publicationId": "MIM:180700" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24716670" }, "publicationId": "PMID:24716670" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3107" }, "publicationId": "ORPHA:3107" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620910" }, "publicationId": "MIM:620910" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38386308" }, "publicationId": "PMID:38386308" }, "phenotypeStatement": "High palate", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000597", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98913" }, "publicationId": "ORPHA:98913" }, "phenotypeStatement": "Ophthalmoparesis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002527", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:171430" }, "publicationId": "ORPHA:171430" }, "phenotypeStatement": "Falls", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6649" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604317" }, "publicationId": "MIM:604317" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24502" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20729831" }, "publicationId": "PMID:20729831" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24502" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2512" }, "publicationId": "ORPHA:2512" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24502" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610915" }, "publicationId": "MIM:610915" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17277775" }, "publicationId": "PMID:17277775" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002108", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:122" }, "publicationId": "ORPHA:122" }, "phenotypeStatement": "Spontaneous pneumothorax", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:13995" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:218040" }, "publicationId": "MIM:218040" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:5173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3071" }, "publicationId": "ORPHA:3071" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:5173" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619745" }, "publicationId": "MIM:619745" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34626534" }, "publicationId": "PMID:34626534" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1901" }, "publicationId": "ORPHA:1901" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14631" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011675", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:139411" }, "publicationId": "ORPHA:139411" }, "phenotypeStatement": "Arrhythmia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10681" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031473", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Anger", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031473", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Anger", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:500" }, "publicationId": "ORPHA:500" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9829" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9829" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:114290" }, "publicationId": "MIM:114290" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12161603" }, "publicationId": "PMID:12161603" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140" }, "publicationId": "ORPHA:140" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:95496" }, "publicationId": "ORPHA:95496" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21734" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614851" }, "publicationId": "MIM:614851" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14906" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22933543" }, "publicationId": "PMID:22933543" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14906" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14906" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:319675" }, "publicationId": "ORPHA:319675" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14906" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:225280" }, "publicationId": "MIM:225280" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15805154" }, "publicationId": "PMID:15805154" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601553" }, "publicationId": "MIM:601553" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11544476" }, "publicationId": "PMID:11544476" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12445216" }, "publicationId": "PMID:12445216" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008081", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Pes valgus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008081", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29040572" }, "publicationId": "PMID:29040572" }, "phenotypeStatement": "Pes valgus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:151210" }, "publicationId": "MIM:151210" }, "phenotypeStatement": "Flat acetabular roof", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:271700" }, "publicationId": "MIM:271700" }, "phenotypeStatement": "Flat acetabular roof", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8723097" }, "publicationId": "PMID:8723097" }, "phenotypeStatement": "Flat acetabular roof", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:94068" }, "publicationId": "ORPHA:94068" }, "phenotypeStatement": "Flat acetabular roof", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620952" }, "publicationId": "MIM:620952" }, "phenotypeStatement": "Anemia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18385497" }, "publicationId": "PMID:18385497" }, "phenotypeStatement": "Anemia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000666", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Horizontal nystagmus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000666", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Horizontal nystagmus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:220386" }, "publicationId": "ORPHA:220386" }, "phenotypeStatement": "Hip dislocation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3686" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93924" }, "publicationId": "ORPHA:93924" }, "phenotypeStatement": "Hip dislocation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3686" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93926" }, "publicationId": "ORPHA:93926" }, "phenotypeStatement": "Hip dislocation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3686" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93925" }, "publicationId": "ORPHA:93925" }, "phenotypeStatement": "Hip dislocation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3686" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:183900" }, "publicationId": "MIM:183900" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:184250" }, "publicationId": "MIM:184250" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7550321" }, "publicationId": "PMID:7550321" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:184255" }, "publicationId": "MIM:184255" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29100092" }, "publicationId": "PMID:29100092" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:271700" }, "publicationId": "MIM:271700" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93315" }, "publicationId": "ORPHA:93315" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:166100" }, "publicationId": "ORPHA:166100" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:117550" }, "publicationId": "MIM:117550" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15942875" }, "publicationId": "PMID:15942875" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:821" }, "publicationId": "ORPHA:821" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:508533" }, "publicationId": "ORPHA:508533" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300882" }, "publicationId": "MIM:300882" }, "phenotypeStatement": "Truncal obesity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:13315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199" }, "publicationId": "ORPHA:199" }, "phenotypeStatement": "Truncal obesity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:13315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3459" }, "publicationId": "ORPHA:3459" }, "phenotypeStatement": "Truncal obesity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:13315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:211380" }, "publicationId": "MIM:211380" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1750" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28988429" }, "publicationId": "PMID:28988429" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1750" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:268310" }, "publicationId": "MIM:268310" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033425", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:152700" }, "publicationId": "MIM:152700" }, "phenotypeStatement": "Periungual erythema", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12269" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033425", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9796581" }, "publicationId": "PMID:9796581" }, "phenotypeStatement": "Periungual erythema", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12269" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:176270" }, "publicationId": "MIM:176270" }, "phenotypeStatement": "Short foot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20301505" }, "publicationId": "PMID:20301505" }, "phenotypeStatement": "Short foot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98754" }, "publicationId": "ORPHA:98754" }, "phenotypeStatement": "Short foot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:177904" }, "publicationId": "ORPHA:177904" }, "phenotypeStatement": "Short foot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:177901" }, "publicationId": "ORPHA:177901" }, "phenotypeStatement": "Short foot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:398069" }, "publicationId": "ORPHA:398069" }, "phenotypeStatement": "Short foot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:177910" }, "publicationId": "ORPHA:177910" }, "phenotypeStatement": "Short foot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615547" }, "publicationId": "MIM:615547" }, "phenotypeStatement": "Short foot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6814" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1980" }, "publicationId": "ORPHA:1980" }, "phenotypeStatement": "Abnormal pyramidal sign", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14686" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:220600" }, "publicationId": "MIM:220600" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2918" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22121204" }, "publicationId": "PMID:22121204" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2918" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:249500" }, "publicationId": "MIM:249500" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9477" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12459588" }, "publicationId": "PMID:12459588" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9477" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Extra-axial cerebrospinal fluid accumulation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Extra-axial cerebrospinal fluid accumulation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002376", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620537" }, "publicationId": "MIM:620537" }, "phenotypeStatement": "Developmental regression", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002376", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23647072" }, "publicationId": "PMID:23647072" }, "phenotypeStatement": "Developmental regression", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002376", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32725632" }, "publicationId": "PMID:32725632" }, "phenotypeStatement": "Developmental regression", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002376", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35874597" }, "publicationId": "PMID:35874597" }, "phenotypeStatement": "Developmental regression", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002376", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36307226" }, "publicationId": "PMID:36307226" }, "phenotypeStatement": "Developmental regression", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002376", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Developmental regression", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:397590" }, "publicationId": "ORPHA:397590" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9045" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618644" }, "publicationId": "MIM:618644" }, "phenotypeStatement": "Low-set ears", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:13520" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000369", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31564437" }, "publicationId": "PMID:31564437" }, "phenotypeStatement": "Low-set ears", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:13520" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001083", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:130000" }, "publicationId": "MIM:130000" }, "phenotypeStatement": "Ectopia lentis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2209" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000154", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1713" }, "publicationId": "ORPHA:1713" }, "phenotypeStatement": "Wide mouth", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:252930" }, "publicationId": "MIM:252930" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20825431" }, "publicationId": "PMID:20825431" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613563" }, "publicationId": "MIM:613563" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1541" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000455", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:273750" }, "publicationId": "MIM:273750" }, "phenotypeStatement": "Broad nasal tip", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000455", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33258289" }, "publicationId": "PMID:33258289" }, "phenotypeStatement": "Broad nasal tip", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21024" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:169100" }, "publicationId": "MIM:169100" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11743" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:46627" }, "publicationId": "ORPHA:46627" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11743" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617035" }, "publicationId": "MIM:617035" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11743" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18752453" }, "publicationId": "PMID:18752453" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11743" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29040572" }, "publicationId": "PMID:29040572" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33348459" }, "publicationId": "PMID:33348459" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:543470" }, "publicationId": "ORPHA:543470" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17146" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619825" }, "publicationId": "MIM:619825" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25835" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32855533" }, "publicationId": "PMID:32855533" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25835" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25835" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002034", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:251992" }, "publicationId": "ORPHA:251992" }, "phenotypeStatement": "Abnormal rectum morphology", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:427" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616113" }, "publicationId": "MIM:616113" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2938" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25248098" }, "publicationId": "PMID:25248098" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2938" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:453533" }, "publicationId": "ORPHA:453533" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2938" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614813" }, "publicationId": "MIM:614813" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24488" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615789" }, "publicationId": "MIM:615789" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14312" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24389050" }, "publicationId": "PMID:24389050" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14312" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256540" }, "publicationId": "MIM:256540" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9251" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8725271" }, "publicationId": "PMID:8725271" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9251" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003577", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620931" }, "publicationId": "MIM:620931" }, "phenotypeStatement": "Congenital onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003577", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38422122" }, "publicationId": "PMID:38422122" }, "phenotypeStatement": "Congenital onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619329" }, "publicationId": "MIM:619329" }, "phenotypeStatement": "Striae distensae", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2209" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32938213" }, "publicationId": "PMID:32938213" }, "phenotypeStatement": "Striae distensae", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2209" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:287" }, "publicationId": "ORPHA:287" }, "phenotypeStatement": "Striae distensae", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2209" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0200134", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Epileptic encephalopathy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18756" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000951", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:758" }, "publicationId": "ORPHA:758" }, "phenotypeStatement": "Abnormality of the skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:269250" }, "publicationId": "MIM:269250" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17952091" }, "publicationId": "PMID:17952091" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20800" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617396" }, "publicationId": "MIM:617396" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:30129" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21455487" }, "publicationId": "PMID:21455487" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:30129" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620923" }, "publicationId": "MIM:620923" }, "phenotypeStatement": "Neoplasm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38858457" }, "publicationId": "PMID:38858457" }, "phenotypeStatement": "Neoplasm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032560", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620917" }, "publicationId": "MIM:620917" }, "phenotypeStatement": "Coiled sperm flagella", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26485" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032560", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36752199" }, "publicationId": "PMID:36752199" }, "phenotypeStatement": "Coiled sperm flagella", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26485" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000219", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620908" }, "publicationId": "MIM:620908" }, "phenotypeStatement": "Thin upper lip vermilion", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000219", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36351433" }, "publicationId": "PMID:36351433" }, "phenotypeStatement": "Thin upper lip vermilion", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:169500" }, "publicationId": "MIM:169500" }, "phenotypeStatement": "Hyperreflexia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:99027" }, "publicationId": "ORPHA:99027" }, "phenotypeStatement": "Hyperreflexia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ventriculomegaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18661" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:121050" }, "publicationId": "MIM:121050" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608728" }, "publicationId": "MIM:608728" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6909" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15121775" }, "publicationId": "PMID:15121775" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6909" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616654" }, "publicationId": "MIM:616654" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25774" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25118024" }, "publicationId": "PMID:25118024" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25774" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:475" }, "publicationId": "ORPHA:475" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25774" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613464" }, "publicationId": "MIM:613464" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20451172" }, "publicationId": "PMID:20451172" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002878", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Respiratory failure", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25678" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:122600" }, "publicationId": "MIM:122600" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25564734" }, "publicationId": "PMID:25564734" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001332", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1980" }, "publicationId": "ORPHA:1980" }, "phenotypeStatement": "Dystonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14686" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000103", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:222100" }, "publicationId": "MIM:222100" }, "phenotypeStatement": "Polyuria", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002079", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619701" }, "publicationId": "MIM:619701" }, "phenotypeStatement": "Hypoplasia of the corpus callosum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002079", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28017472" }, "publicationId": "PMID:28017472" }, "phenotypeStatement": "Hypoplasia of the corpus callosum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002079", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34800363" }, "publicationId": "PMID:34800363" }, "phenotypeStatement": "Hypoplasia of the corpus callosum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007688", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:180105" }, "publicationId": "MIM:180105" }, "phenotypeStatement": "Undetectable light- and dark-adapted electroretinogram", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001762", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Talipes equinovarus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000894", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:142900" }, "publicationId": "MIM:142900" }, "phenotypeStatement": "Short clavicles", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000894", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18828908" }, "publicationId": "PMID:18828908" }, "phenotypeStatement": "Short clavicles", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000894", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8730285" }, "publicationId": "PMID:8730285" }, "phenotypeStatement": "Short clavicles", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012801", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620985" }, "publicationId": "MIM:620985" }, "phenotypeStatement": "Narrow jaw", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012801", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38815585" }, "publicationId": "PMID:38815585" }, "phenotypeStatement": "Narrow jaw", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000079", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Abnormality of the urinary system", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002141", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231178" }, "publicationId": "ORPHA:231178" }, "phenotypeStatement": "Gait imbalance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612943" }, "publicationId": "MIM:612943" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15646" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31856884" }, "publicationId": "PMID:31856884" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15646" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617055" }, "publicationId": "MIM:617055" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15646" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27392078" }, "publicationId": "PMID:27392078" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15646" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001824", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:29072" }, "publicationId": "ORPHA:29072" }, "phenotypeStatement": "Weight loss", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10680" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001824", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3208" }, "publicationId": "ORPHA:3208" }, "phenotypeStatement": "Weight loss", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10680" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001824", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:97286" }, "publicationId": "ORPHA:97286" }, "phenotypeStatement": "Weight loss", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10680" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000958", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Dry skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000958", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16670861" }, "publicationId": "PMID:16670861" }, "phenotypeStatement": "Dry skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000958", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23802543" }, "publicationId": "PMID:23802543" }, "phenotypeStatement": "Dry skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000958", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26031502" }, "publicationId": "PMID:26031502" }, "phenotypeStatement": "Dry skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000958", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:634" }, "publicationId": "ORPHA:634" }, "phenotypeStatement": "Dry skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:261295" }, "publicationId": "ORPHA:261295" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1069" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618027" }, "publicationId": "MIM:618027" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9964" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29429572" }, "publicationId": "PMID:29429572" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9964" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1465" }, "publicationId": "ORPHA:1465" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9964" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000938", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619269" }, "publicationId": "MIM:619269" }, "phenotypeStatement": "Osteopenia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24008" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000938", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32101163" }, "publicationId": "PMID:32101163" }, "phenotypeStatement": "Osteopenia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24008" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033425", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:152700" }, "publicationId": "MIM:152700" }, "phenotypeStatement": "Periungual erythema", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033425", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9796581" }, "publicationId": "PMID:9796581" }, "phenotypeStatement": "Periungual erythema", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300209" }, "publicationId": "MIM:300209" }, "phenotypeStatement": "Neonatal respiratory distress", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16783569" }, "publicationId": "PMID:16783569" }, "phenotypeStatement": "Neonatal respiratory distress", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Neonatal respiratory distress", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2567" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000338", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619701" }, "publicationId": "MIM:619701" }, "phenotypeStatement": "Hypomimic face", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000338", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34800363" }, "publicationId": "PMID:34800363" }, "phenotypeStatement": "Hypomimic face", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001845", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620987" }, "publicationId": "MIM:620987" }, "phenotypeStatement": "Overlapping toe", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001845", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38128568" }, "publicationId": "PMID:38128568" }, "phenotypeStatement": "Overlapping toe", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613800" }, "publicationId": "MIM:613800" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8490" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21358632" }, "publicationId": "PMID:21358632" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8490" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:600204" }, "publicationId": "MIM:600204" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20358595" }, "publicationId": "PMID:20358595" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614284" }, "publicationId": "MIM:614284" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21671392" }, "publicationId": "PMID:21671392" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615888" }, "publicationId": "MIM:615888" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9879" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24958846" }, "publicationId": "PMID:24958846" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9879" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Ventriculomegaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12760" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:152700" }, "publicationId": "MIM:152700" }, "phenotypeStatement": "Lupus nephritis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26342222" }, "publicationId": "PMID:26342222" }, "phenotypeStatement": "Lupus nephritis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536" }, "publicationId": "ORPHA:536" }, "phenotypeStatement": "Lupus nephritis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2505" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615758" }, "publicationId": "MIM:615758" }, "phenotypeStatement": "Decreased CD4+ T cell proportion", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6524" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032218", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9664084" }, "publicationId": "PMID:9664084" }, "phenotypeStatement": "Decreased CD4+ T cell proportion", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6524" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003330", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:251992" }, "publicationId": "ORPHA:251992" }, "phenotypeStatement": "Abnormal bone structure", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:427" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619884" }, "publicationId": "MIM:619884" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34450031" }, "publicationId": "PMID:34450031" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2512" }, "publicationId": "ORPHA:2512" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2232" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617717" }, "publicationId": "MIM:617717" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28965846" }, "publicationId": "PMID:28965846" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33348459" }, "publicationId": "PMID:33348459" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37107710" }, "publicationId": "PMID:37107710" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37481223" }, "publicationId": "PMID:37481223" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:236680" }, "publicationId": "MIM:236680" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:2074561" }, "publicationId": "PMID:2074561" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2189" }, "publicationId": "ORPHA:2189" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26558" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:250984" }, "publicationId": "ORPHA:250984" }, "phenotypeStatement": "Malar flattening", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:180849" }, "publicationId": "MIM:180849" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618107" }, "publicationId": "MIM:618107" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29017" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27291868" }, "publicationId": "PMID:27291868" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29017" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2176" }, "publicationId": "ORPHA:2176" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21732" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003003", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:114500" }, "publicationId": "MIM:114500" }, "phenotypeStatement": "Colon cancer", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7128" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:605670" }, "publicationId": "MIM:605670" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14344" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12944416" }, "publicationId": "PMID:12944416" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14344" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008551", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1770" }, "publicationId": "ORPHA:1770" }, "phenotypeStatement": "Microtia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17485" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030151", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620962" }, "publicationId": "MIM:620962" }, "phenotypeStatement": "Cholangitis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0030151", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39132680" }, "publicationId": "PMID:39132680" }, "phenotypeStatement": "Cholangitis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001875", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:600901" }, "publicationId": "MIM:600901" }, "phenotypeStatement": "Decreased total neutrophil count", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3586" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619750" }, "publicationId": "MIM:619750" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33517393" }, "publicationId": "PMID:33517393" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6021" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:215150" }, "publicationId": "MIM:215150" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614524" }, "publicationId": "MIM:614524" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22246659" }, "publicationId": "PMID:22246659" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615996" }, "publicationId": "MIM:615996" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24488770" }, "publicationId": "PMID:24488770" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615583" }, "publicationId": "MIM:615583" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17042" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24140112" }, "publicationId": "PMID:24140112" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17042" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Poor head control", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300238" }, "publicationId": "MIM:300238" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9910" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25256757" }, "publicationId": "PMID:25256757" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9910" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:85286" }, "publicationId": "ORPHA:85286" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9910" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1830" }, "publicationId": "ORPHA:1830" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11102" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620028" }, "publicationId": "MIM:620028" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25640" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33473208" }, "publicationId": "PMID:33473208" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25640" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25640" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001742", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Nasal congestion", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618000" }, "publicationId": "MIM:618000" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29606302" }, "publicationId": "PMID:29606302" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30759870" }, "publicationId": "PMID:30759870" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536532" }, "publicationId": "ORPHA:536532" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619479" }, "publicationId": "MIM:619479" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29138412" }, "publicationId": "PMID:29138412" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:210720" }, "publicationId": "MIM:210720" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:16068" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008947", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Floppy infant", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18756" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613205" }, "publicationId": "MIM:613205" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15148145" }, "publicationId": "PMID:15148145" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18551513" }, "publicationId": "PMID:18551513" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:157973" }, "publicationId": "ORPHA:157973" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:90153" }, "publicationId": "ORPHA:90153" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98855" }, "publicationId": "ORPHA:98855" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98853" }, "publicationId": "ORPHA:98853" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:95496" }, "publicationId": "ORPHA:95496" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21734" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619244" }, "publicationId": "MIM:619244" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19274" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32439809" }, "publicationId": "PMID:32439809" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19274" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002164", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:158000" }, "publicationId": "MIM:158000" }, "phenotypeStatement": "Nail dysplasia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6460" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613341" }, "publicationId": "MIM:613341" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6685" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:364055" }, "publicationId": "ORPHA:364055" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6685" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6685" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3047" }, "publicationId": "ORPHA:3047" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613861" }, "publicationId": "MIM:613861" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21295283" }, "publicationId": "PMID:21295283" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620911" }, "publicationId": "MIM:620911" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36136088" }, "publicationId": "PMID:36136088" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000609", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Optic nerve hypoplasia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000609", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30250212" }, "publicationId": "PMID:30250212" }, "phenotypeStatement": "Optic nerve hypoplasia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000609", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33348459" }, "publicationId": "PMID:33348459" }, "phenotypeStatement": "Optic nerve hypoplasia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Delayed skeletal maturation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25815" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003042", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536532" }, "publicationId": "ORPHA:536532" }, "phenotypeStatement": "Elbow dislocation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010971", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:247420" }, "publicationId": "MIM:247420" }, "phenotypeStatement": "Absence of Lutheran antigen on erythrocytes", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:600348" }, "publicationId": "MIM:600348" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3330" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24859200" }, "publicationId": "PMID:24859200" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3330" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601559" }, "publicationId": "MIM:601559" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100845", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Anaphylactic shock", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100845", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39891497" }, "publicationId": "PMID:39891497" }, "phenotypeStatement": "Anaphylactic shock", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:251270" }, "publicationId": "MIM:251270" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18127" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000444", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620908" }, "publicationId": "MIM:620908" }, "phenotypeStatement": "Convex nasal ridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000444", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36351433" }, "publicationId": "PMID:36351433" }, "phenotypeStatement": "Convex nasal ridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040071", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Abnormal morphology of ulna", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301024" }, "publicationId": "MIM:301024" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17123" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30335141" }, "publicationId": "PMID:30335141" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17123" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009803", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:166250" }, "publicationId": "MIM:166250" }, "phenotypeStatement": "Short phalanx of finger", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3688" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Abnormal circulating IgA concentration", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16670861" }, "publicationId": "PMID:16670861" }, "phenotypeStatement": "Abnormal circulating IgA concentration", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33452875" }, "publicationId": "PMID:33452875" }, "phenotypeStatement": "Abnormal circulating IgA concentration", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34888090" }, "publicationId": "PMID:34888090" }, "phenotypeStatement": "Abnormal circulating IgA concentration", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0410240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38419182" }, "publicationId": "PMID:38419182" }, "phenotypeStatement": "Abnormal circulating IgA concentration", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003645", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98434" }, "publicationId": "ORPHA:98434" }, "phenotypeStatement": "Prolonged partial thromboplastin time", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040146", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613657" }, "publicationId": "MIM:613657" }, "phenotypeStatement": "D-2-hydroxyglutaric acidemia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:5383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040146", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20847235" }, "publicationId": "PMID:20847235" }, "phenotypeStatement": "D-2-hydroxyglutaric acidemia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:5383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040146", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79315" }, "publicationId": "ORPHA:79315" }, "phenotypeStatement": "D-2-hydroxyglutaric acidemia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:5383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002986", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:151210" }, "publicationId": "MIM:151210" }, "phenotypeStatement": "Radial bowing", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002986", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14729840" }, "publicationId": "PMID:14729840" }, "phenotypeStatement": "Radial bowing", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619489" }, "publicationId": "MIM:619489" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14615" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26902202" }, "publicationId": "PMID:26902202" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14615" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199" }, "publicationId": "ORPHA:199" }, "phenotypeStatement": "Hip dislocation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11111" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:220386" }, "publicationId": "ORPHA:220386" }, "phenotypeStatement": "Hip dislocation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11111" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100542", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Abnormal localization of kidney", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002987", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:184900" }, "publicationId": "MIM:184900" }, "phenotypeStatement": "Elbow flexion contracture", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002987", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20375004" }, "publicationId": "PMID:20375004" }, "phenotypeStatement": "Elbow flexion contracture", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002987", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608328" }, "publicationId": "MIM:608328" }, "phenotypeStatement": "Elbow flexion contracture", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002987", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23897642" }, "publicationId": "PMID:23897642" }, "phenotypeStatement": "Elbow flexion contracture", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001298", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Encephalopathy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25640" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615777" }, "publicationId": "MIM:615777" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15516" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24581741" }, "publicationId": "PMID:24581741" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15516" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011451", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620888" }, "publicationId": "MIM:620888" }, "phenotypeStatement": "Primary microcephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011451", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38118446" }, "publicationId": "PMID:38118446" }, "phenotypeStatement": "Primary microcephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617119" }, "publicationId": "MIM:617119" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21424" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27486776" }, "publicationId": "PMID:27486776" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21424" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611263" }, "publicationId": "MIM:611263" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29262" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:474" }, "publicationId": "ORPHA:474" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29262" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93271" }, "publicationId": "ORPHA:93271" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29262" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005403", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601705" }, "publicationId": "MIM:601705" }, "phenotypeStatement": "Decreased total T cell count", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12765" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005403", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:83471" }, "publicationId": "ORPHA:83471" }, "phenotypeStatement": "Decreased total T cell count", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12765" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005403", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618806" }, "publicationId": "MIM:618806" }, "phenotypeStatement": "Decreased total T cell count", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12765" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005403", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31447097" }, "publicationId": "PMID:31447097" }, "phenotypeStatement": "Decreased total T cell count", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12765" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005403", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:169095" }, "publicationId": "ORPHA:169095" }, "phenotypeStatement": "Decreased total T cell count", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12765" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000248", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615828" }, "publicationId": "MIM:615828" }, "phenotypeStatement": "Brachycephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14677" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000248", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24726472" }, "publicationId": "PMID:24726472" }, "phenotypeStatement": "Brachycephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14677" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617121" }, "publicationId": "MIM:617121" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:7121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24886560" }, "publicationId": "PMID:24886560" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:7121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:110" }, "publicationId": "ORPHA:110" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:7121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620952" }, "publicationId": "MIM:620952" }, "phenotypeStatement": "Abnormal circulating vitamin B12 concentration", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040126", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18385497" }, "publicationId": "PMID:18385497" }, "phenotypeStatement": "Abnormal circulating vitamin B12 concentration", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25221" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003803", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621010" }, "publicationId": "MIM:621010" }, "phenotypeStatement": "Type 1 muscle fiber predominance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003803", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39106866" }, "publicationId": "PMID:39106866" }, "phenotypeStatement": "Type 1 muscle fiber predominance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:154700" }, "publicationId": "MIM:154700" }, "phenotypeStatement": "Narrow palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000189", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608328" }, "publicationId": "MIM:608328" }, "phenotypeStatement": "Narrow palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002827", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93357" }, "publicationId": "ORPHA:93357" }, "phenotypeStatement": "Hip dislocation", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:7801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:260400" }, "publicationId": "MIM:260400" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619311" }, "publicationId": "MIM:619311" }, "phenotypeStatement": "Delayed ability to walk", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9839" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30500825" }, "publicationId": "PMID:30500825" }, "phenotypeStatement": "Delayed ability to walk", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9839" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620145" }, "publicationId": "MIM:620145" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34788397" }, "publicationId": "PMID:34788397" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24824" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:215470" }, "publicationId": "MIM:215470" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24355708" }, "publicationId": "PMID:24355708" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:245800" }, "publicationId": "MIM:245800" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25480986" }, "publicationId": "PMID:25480986" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612020" }, "publicationId": "MIM:612020" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18313024" }, "publicationId": "PMID:18313024" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:275400" }, "publicationId": "MIM:275400" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25480986" }, "publicationId": "PMID:25480986" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:166220" }, "publicationId": "MIM:166220" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2198" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617821" }, "publicationId": "MIM:617821" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2198" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1899" }, "publicationId": "ORPHA:1899" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2198" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:259420" }, "publicationId": "MIM:259420" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2198" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012385", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618343" }, "publicationId": "MIM:618343" }, "phenotypeStatement": "Camptodactyly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620774" }, "publicationId": "MIM:620774" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36073542" }, "publicationId": "PMID:36073542" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1375" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613862" }, "publicationId": "MIM:613862" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11062461" }, "publicationId": "PMID:11062461" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:605275" }, "publicationId": "MIM:605275" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29469822" }, "publicationId": "PMID:29469822" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30368668" }, "publicationId": "PMID:30368668" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616564" }, "publicationId": "MIM:616564" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30368668" }, "publicationId": "PMID:30368668" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001047", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620985" }, "publicationId": "MIM:620985" }, "phenotypeStatement": "Atopic dermatitis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001047", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38815585" }, "publicationId": "PMID:38815585" }, "phenotypeStatement": "Atopic dermatitis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:121050" }, "publicationId": "MIM:121050" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10797416" }, "publicationId": "PMID:10797416" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11754102" }, "publicationId": "PMID:11754102" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30147916" }, "publicationId": "PMID:30147916" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8900230" }, "publicationId": "PMID:8900230" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9106527" }, "publicationId": "PMID:9106527" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9199560" }, "publicationId": "PMID:9199560" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9714438" }, "publicationId": "PMID:9714438" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002616", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9737771" }, "publicationId": "PMID:9737771" }, "phenotypeStatement": "Aortic root aneurysm", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608091" }, "publicationId": "MIM:608091" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20036350" }, "publicationId": "PMID:20036350" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2318" }, "publicationId": "ORPHA:2318" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2754" }, "publicationId": "ORPHA:2754" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001636", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618780" }, "publicationId": "MIM:618780" }, "phenotypeStatement": "Tetralogy of Fallot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3767" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001636", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30232381" }, "publicationId": "PMID:30232381" }, "phenotypeStatement": "Tetralogy of Fallot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3767" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001636", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3303" }, "publicationId": "ORPHA:3303" }, "phenotypeStatement": "Tetralogy of Fallot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3767" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001541", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:139411" }, "publicationId": "ORPHA:139411" }, "phenotypeStatement": "Ascites", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10682" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001653", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:287" }, "publicationId": "ORPHA:287" }, "phenotypeStatement": "Mitral regurgitation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025406", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620931" }, "publicationId": "MIM:620931" }, "phenotypeStatement": "Asthenia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025406", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38422122" }, "publicationId": "PMID:38422122" }, "phenotypeStatement": "Asthenia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618624" }, "publicationId": "MIM:618624" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17271" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31130282" }, "publicationId": "PMID:31130282" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17271" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17271" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001511", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:151050" }, "publicationId": "MIM:151050" }, "phenotypeStatement": "Intrauterine growth retardation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9587" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614284" }, "publicationId": "MIM:614284" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21671392" }, "publicationId": "PMID:21671392" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2218" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000076", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621012" }, "publicationId": "MIM:621012" }, "phenotypeStatement": "Vesicoureteral reflux", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000076", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39442041" }, "publicationId": "PMID:39442041" }, "phenotypeStatement": "Vesicoureteral reflux", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000826", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604931" }, "publicationId": "MIM:604931" }, "phenotypeStatement": "Precocious puberty", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4795" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000826", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18628520" }, "publicationId": "PMID:18628520" }, "phenotypeStatement": "Precocious puberty", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4795" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000826", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:168588" }, "publicationId": "ORPHA:168588" }, "phenotypeStatement": "Precocious puberty", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4795" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615777" }, "publicationId": "MIM:615777" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15516" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24581741" }, "publicationId": "PMID:24581741" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15516" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1425" }, "publicationId": "ORPHA:1425" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15516" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620950" }, "publicationId": "MIM:620950" }, "phenotypeStatement": "Coma", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:40" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001259", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32813957" }, "publicationId": "PMID:32813957" }, "phenotypeStatement": "Coma", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:40" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003694", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608810" }, "publicationId": "MIM:608810" }, "phenotypeStatement": "Late-onset proximal muscle weakness", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616917" }, "publicationId": "MIM:616917" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25985" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26996948" }, "publicationId": "PMID:26996948" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25985" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:373" }, "publicationId": "ORPHA:373" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613758" }, "publicationId": "MIM:613758" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10521" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9565049" }, "publicationId": "PMID:9565049" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10521" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620228" }, "publicationId": "MIM:620228" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10521" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28549094" }, "publicationId": "PMID:28549094" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10521" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:75382" }, "publicationId": "ORPHA:75382" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10521" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613750" }, "publicationId": "MIM:613750" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8002" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10192380" }, "publicationId": "PMID:10192380" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8002" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615297" }, "publicationId": "MIM:615297" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:28526" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23522784" }, "publicationId": "PMID:23522784" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:28526" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:312750" }, "publicationId": "MIM:312750" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9792883" }, "publicationId": "PMID:9792883" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6990" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002240", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79083" }, "publicationId": "ORPHA:79083" }, "phenotypeStatement": "Hepatomegaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9236" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:132800" }, "publicationId": "MIM:132800" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21358634" }, "publicationId": "PMID:21358634" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609192" }, "publicationId": "MIM:609192" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15731757" }, "publicationId": "PMID:15731757" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16928994" }, "publicationId": "PMID:16928994" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31475485" }, "publicationId": "PMID:31475485" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002900", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:168588" }, "publicationId": "ORPHA:168588" }, "phenotypeStatement": "Hypokalemia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4795" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:271640" }, "publicationId": "MIM:271640" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23664118" }, "publicationId": "PMID:23664118" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536467" }, "publicationId": "ORPHA:536467" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610443" }, "publicationId": "MIM:610443" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18628315" }, "publicationId": "PMID:18628315" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611553" }, "publicationId": "MIM:611553" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9829" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17603482" }, "publicationId": "PMID:17603482" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9829" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17603483" }, "publicationId": "PMID:17603483" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9829" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611554" }, "publicationId": "MIM:611554" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9829" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17603483" }, "publicationId": "PMID:17603483" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9829" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100721", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:139411" }, "publicationId": "ORPHA:139411" }, "phenotypeStatement": "Mediastinal lymphadenopathy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10680" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Decreased circulating complement C3 concentration", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005421", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28289593" }, "publicationId": "PMID:28289593" }, "phenotypeStatement": "Decreased circulating complement C3 concentration", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618336" }, "publicationId": "MIM:618336" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30503519" }, "publicationId": "PMID:30503519" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9177" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011471", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620939" }, "publicationId": "MIM:620939" }, "phenotypeStatement": "Gastrostomy tube feeding in infancy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011471", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29784638" }, "publicationId": "PMID:29784638" }, "phenotypeStatement": "Gastrostomy tube feeding in infancy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002650", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Scoliosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29673" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617425" }, "publicationId": "MIM:617425" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28148688" }, "publicationId": "PMID:28148688" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28331220" }, "publicationId": "PMID:28331220" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:508533" }, "publicationId": "ORPHA:508533" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001704", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:287" }, "publicationId": "ORPHA:287" }, "phenotypeStatement": "Tricuspid valve prolapse", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2209" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611291" }, "publicationId": "MIM:611291" }, "phenotypeStatement": "Ptosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25737" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37703920" }, "publicationId": "PMID:37703920" }, "phenotypeStatement": "Ptosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25737" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607417" }, "publicationId": "MIM:607417" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:30185" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28143899" }, "publicationId": "PMID:28143899" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:30185" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:277440" }, "publicationId": "MIM:277440" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17970811" }, "publicationId": "PMID:17970811" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12679" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:114290" }, "publicationId": "MIM:114290" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12161603" }, "publicationId": "PMID:12161603" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000164", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3206" }, "publicationId": "ORPHA:3206" }, "phenotypeStatement": "Abnormality of the dentition", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6597" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003593", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620983" }, "publicationId": "MIM:620983" }, "phenotypeStatement": "Infantile onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2236" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003593", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33529166" }, "publicationId": "PMID:33529166" }, "phenotypeStatement": "Infantile onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2236" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12760" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620923" }, "publicationId": "MIM:620923" }, "phenotypeStatement": "Depression", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000716", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38858457" }, "publicationId": "PMID:38858457" }, "phenotypeStatement": "Depression", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616462" }, "publicationId": "MIM:616462" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17264" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37075751" }, "publicationId": "PMID:37075751" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17264" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001266", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:306" }, "publicationId": "ORPHA:306" }, "phenotypeStatement": "Choreoathetosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6296" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002120", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Cerebral cortical atrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002120", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Cerebral cortical atrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619585" }, "publicationId": "MIM:619585" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21424" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33689014" }, "publicationId": "PMID:33689014" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21424" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001636", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3303" }, "publicationId": "ORPHA:3303" }, "phenotypeStatement": "Tetralogy of Fallot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4279" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610444" }, "publicationId": "MIM:610444" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4393" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8673138" }, "publicationId": "PMID:8673138" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4393" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:226980" }, "publicationId": "MIM:226980" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3255" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10932183" }, "publicationId": "PMID:10932183" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3255" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002023", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Anal atresia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000348", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301132" }, "publicationId": "MIM:301132" }, "phenotypeStatement": "High forehead", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000348", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38158857" }, "publicationId": "PMID:38158857" }, "phenotypeStatement": "High forehead", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:231070" }, "publicationId": "MIM:231070" }, "phenotypeStatement": "Beaking of vertebral bodies", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25676" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2078" }, "publicationId": "ORPHA:2078" }, "phenotypeStatement": "Beaking of vertebral bodies", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25676" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:130060" }, "publicationId": "MIM:130060" }, "phenotypeStatement": "Malar flattening", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003128", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615119" }, "publicationId": "MIM:615119" }, "phenotypeStatement": "Lactic acidosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2263" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003128", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12474143" }, "publicationId": "PMID:12474143" }, "phenotypeStatement": "Lactic acidosis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2263" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616723" }, "publicationId": "MIM:616723" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26365341" }, "publicationId": "PMID:26365341" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:457395" }, "publicationId": "ORPHA:457395" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11841556" }, "publicationId": "PMID:11841556" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16670861" }, "publicationId": "PMID:16670861" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22089833" }, "publicationId": "PMID:22089833" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26365906" }, "publicationId": "PMID:26365906" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31990481" }, "publicationId": "PMID:31990481" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33452875" }, "publicationId": "PMID:33452875" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34862657" }, "publicationId": "PMID:34862657" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36165187" }, "publicationId": "PMID:36165187" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37102386" }, "publicationId": "PMID:37102386" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:40607310" }, "publicationId": "PMID:40607310" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000989", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:41047924" }, "publicationId": "PMID:41047924" }, "phenotypeStatement": "Pruritus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Tremor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003391", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616325" }, "publicationId": "MIM:616325" }, "phenotypeStatement": "Gowers sign", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003391", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19949040" }, "publicationId": "PMID:19949040" }, "phenotypeStatement": "Gowers sign", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003391", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23326516" }, "publicationId": "PMID:23326516" }, "phenotypeStatement": "Gowers sign", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7525" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001004", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Lymphedema", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001004", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31124279" }, "publicationId": "PMID:31124279" }, "phenotypeStatement": "Lymphedema", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:218330" }, "publicationId": "MIM:218330" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:13556" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1515" }, "publicationId": "ORPHA:1515" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:13556" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613660" }, "publicationId": "MIM:613660" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20805371" }, "publicationId": "PMID:20805371" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14550" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:152700" }, "publicationId": "MIM:152700" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9796581" }, "publicationId": "PMID:9796581" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3437" }, "publicationId": "ORPHA:3437" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:397" }, "publicationId": "ORPHA:397" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001596", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536" }, "publicationId": "ORPHA:536" }, "phenotypeStatement": "Alopecia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001409", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620931" }, "publicationId": "MIM:620931" }, "phenotypeStatement": "Portal hypertension", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001409", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38422122" }, "publicationId": "PMID:38422122" }, "phenotypeStatement": "Portal hypertension", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1860" }, "publicationId": "ORPHA:1860" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93274" }, "publicationId": "ORPHA:93274" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614557" }, "publicationId": "MIM:614557" }, "phenotypeStatement": "Hyperextensible skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22265013" }, "publicationId": "PMID:22265013" }, "phenotypeStatement": "Hyperextensible skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000974", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:300179" }, "publicationId": "ORPHA:300179" }, "phenotypeStatement": "Hyperextensible skin", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18625" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:304120" }, "publicationId": "MIM:304120" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17264970" }, "publicationId": "PMID:17264970" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:305620" }, "publicationId": "MIM:305620" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16835913" }, "publicationId": "PMID:16835913" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1826" }, "publicationId": "ORPHA:1826" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:90652" }, "publicationId": "ORPHA:90652" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3754" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610006" }, "publicationId": "MIM:610006" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:91" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79157" }, "publicationId": "ORPHA:79157" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:91" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001840", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:249420" }, "publicationId": "MIM:249420" }, "phenotypeStatement": "Metatarsus adductus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29242" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231178" }, "publicationId": "ORPHA:231178" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17416" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:182212" }, "publicationId": "MIM:182212" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10896" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1606" }, "publicationId": "ORPHA:1606" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10896" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010844", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "EEG with multifocal slow activity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Partial anomalous pulmonary venous return", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010773", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Partial anomalous pulmonary venous return", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:260400" }, "publicationId": "MIM:260400" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:27030" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617052" }, "publicationId": "MIM:617052" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:27030" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27346687" }, "publicationId": "PMID:27346687" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:27030" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:258860" }, "publicationId": "MIM:258860" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24519" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614815" }, "publicationId": "MIM:614815" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24519" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22883145" }, "publicationId": "PMID:22883145" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24519" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:564" }, "publicationId": "ORPHA:564" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24519" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2753" }, "publicationId": "ORPHA:2753" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24519" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2754" }, "publicationId": "ORPHA:2754" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24519" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614613" }, "publicationId": "MIM:614613" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:8783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22464250" }, "publicationId": "PMID:22464250" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:8783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:439822" }, "publicationId": "ORPHA:439822" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:8783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:950" }, "publicationId": "ORPHA:950" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:8783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:259770" }, "publicationId": "MIM:259770" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2788" }, "publicationId": "ORPHA:2788" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613382" }, "publicationId": "MIM:613382" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9607" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93387" }, "publicationId": "ORPHA:93387" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9607" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Sparse scalp hair", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15656819" }, "publicationId": "PMID:15656819" }, "phenotypeStatement": "Sparse scalp hair", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20107740" }, "publicationId": "PMID:20107740" }, "phenotypeStatement": "Sparse scalp hair", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23802543" }, "publicationId": "PMID:23802543" }, "phenotypeStatement": "Sparse scalp hair", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24506793" }, "publicationId": "PMID:24506793" }, "phenotypeStatement": "Sparse scalp hair", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34138484" }, "publicationId": "PMID:34138484" }, "phenotypeStatement": "Sparse scalp hair", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38419182" }, "publicationId": "PMID:38419182" }, "phenotypeStatement": "Sparse scalp hair", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39036217" }, "publicationId": "PMID:39036217" }, "phenotypeStatement": "Sparse scalp hair", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:40607310" }, "publicationId": "PMID:40607310" }, "phenotypeStatement": "Sparse scalp hair", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:634" }, "publicationId": "ORPHA:634" }, "phenotypeStatement": "Sparse scalp hair", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001659", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Aortic regurgitation", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:250220" }, "publicationId": "MIM:250220" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:4556" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:253200" }, "publicationId": "MIM:253200" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:714" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:233" }, "publicationId": "ORPHA:233" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15924" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609192" }, "publicationId": "MIM:609192" }, "phenotypeStatement": "Ptosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16596670" }, "publicationId": "PMID:16596670" }, "phenotypeStatement": "Ptosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618826" }, "publicationId": "MIM:618826" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15946" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30025130" }, "publicationId": "PMID:30025130" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15946" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000340", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Sloping forehead", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620767" }, "publicationId": "MIM:620767" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38154379" }, "publicationId": "PMID:38154379" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001636", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3303" }, "publicationId": "ORPHA:3303" }, "phenotypeStatement": "Tetralogy of Fallot", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:32940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001636", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3384" }, "publicationId": "ORPHA:3384" }, "phenotypeStatement": "Tetralogy of Fallot", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:32940" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3459" }, "publicationId": "ORPHA:3459" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:13315" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:271640" }, "publicationId": "MIM:271640" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23664117" }, "publicationId": "PMID:23664117" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615349" }, "publicationId": "MIM:615349" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23664117" }, "publicationId": "PMID:23664117" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008959", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620964" }, "publicationId": "MIM:620964" }, "phenotypeStatement": "Distal upper limb muscle weakness", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008959", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39209426" }, "publicationId": "PMID:39209426" }, "phenotypeStatement": "Distal upper limb muscle weakness", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100779", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Urogenital sinus anomaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100779", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30250212" }, "publicationId": "PMID:30250212" }, "phenotypeStatement": "Urogenital sinus anomaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6000115", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:35704" }, "publicationId": "ORPHA:35704" }, "phenotypeStatement": "Decreased urine creatinine level", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:4175" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000103", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:222100" }, "publicationId": "MIM:222100" }, "phenotypeStatement": "Polyuria", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6182" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:263520" }, "publicationId": "MIM:263520" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:7744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0031951", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:101046" }, "publicationId": "ORPHA:101046" }, "phenotypeStatement": "Nocturnal seizures", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:20619" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032231", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613566" }, "publicationId": "MIM:613566" }, "phenotypeStatement": "Hypochromia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0032231", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20676099" }, "publicationId": "PMID:20676099" }, "phenotypeStatement": "Hypochromia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617460" }, "publicationId": "MIM:617460" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:4922" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25190649" }, "publicationId": "PMID:25190649" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:4922" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:478" }, "publicationId": "ORPHA:478" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:4877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:248500" }, "publicationId": "MIM:248500" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6826" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:309282" }, "publicationId": "ORPHA:309282" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6826" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3342" }, "publicationId": "ORPHA:3342" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:13444" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002079", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1713" }, "publicationId": "ORPHA:1713" }, "phenotypeStatement": "Hypoplasia of the corpus callosum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9834" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:182940" }, "publicationId": "MIM:182940" }, "phenotypeStatement": "Asymmetry of spinal facet joints", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10618" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002345", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:254886" }, "publicationId": "ORPHA:254886" }, "phenotypeStatement": "Action tremor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620985" }, "publicationId": "MIM:620985" }, "phenotypeStatement": "Thin vermilion border", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000233", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38815585" }, "publicationId": "PMID:38815585" }, "phenotypeStatement": "Thin vermilion border", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002311", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:36387" }, "publicationId": "ORPHA:36387" }, "phenotypeStatement": "Incoordination", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11018" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:154780" }, "publicationId": "MIM:154780" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2186" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620960" }, "publicationId": "MIM:620960" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14280" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38950322" }, "publicationId": "PMID:38950322" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14280" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:353277" }, "publicationId": "ORPHA:353277" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:353281" }, "publicationId": "ORPHA:353281" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2348" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:148820" }, "publicationId": "MIM:148820" }, "phenotypeStatement": "Synophrys", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8617" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:193500" }, "publicationId": "MIM:193500" }, "phenotypeStatement": "Synophrys", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8617" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33747040" }, "publicationId": "PMID:33747040" }, "phenotypeStatement": "Synophrys", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8617" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34456975" }, "publicationId": "PMID:34456975" }, "phenotypeStatement": "Synophrys", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8617" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000664", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:894" }, "publicationId": "ORPHA:894" }, "phenotypeStatement": "Synophrys", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:8617" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619472" }, "publicationId": "MIM:619472" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9853" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33875846" }, "publicationId": "PMID:33875846" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9853" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34010604" }, "publicationId": "PMID:34010604" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9853" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9853" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011428", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620908" }, "publicationId": "MIM:620908" }, "phenotypeStatement": "Short fetal femur length", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011428", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36351433" }, "publicationId": "PMID:36351433" }, "phenotypeStatement": "Short fetal femur length", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608380" }, "publicationId": "MIM:608380" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21699" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14681825" }, "publicationId": "PMID:14681825" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21699" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001636", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:280200" }, "publicationId": "ORPHA:280200" }, "phenotypeStatement": "Tetralogy of Fallot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11701" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001890", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:275" }, "publicationId": "ORPHA:275" }, "phenotypeStatement": "Autoimmune hemolytic anemia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617425" }, "publicationId": "MIM:617425" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28132690" }, "publicationId": "PMID:28132690" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614701" }, "publicationId": "MIM:614701" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9811" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32696056" }, "publicationId": "PMID:32696056" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9811" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:194190" }, "publicationId": "MIM:194190" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2309" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:280" }, "publicationId": "ORPHA:280" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2309" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:177850" }, "publicationId": "MIM:177850" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:264800" }, "publicationId": "MIM:264800" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29652691" }, "publicationId": "PMID:29652691" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616202" }, "publicationId": "MIM:616202" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11551" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25561519" }, "publicationId": "PMID:25561519" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11551" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:444072" }, "publicationId": "ORPHA:444072" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11551" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618238" }, "publicationId": "MIM:618238" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15899" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19542079" }, "publicationId": "PMID:19542079" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15899" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617052" }, "publicationId": "MIM:617052" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:27030" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614222" }, "publicationId": "MIM:614222" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14244" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21473985" }, "publicationId": "PMID:21473985" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:14244" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620908" }, "publicationId": "MIM:620908" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000822", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36351433" }, "publicationId": "PMID:36351433" }, "phenotypeStatement": "Hypertension", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19880" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12565" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011890", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98434" }, "publicationId": "ORPHA:98434" }, "phenotypeStatement": "Prolonged bleeding following procedure", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:602772" }, "publicationId": "MIM:602772" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21555" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18976725" }, "publicationId": "PMID:18976725" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21555" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001636", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3303" }, "publicationId": "ORPHA:3303" }, "phenotypeStatement": "Tetralogy of Fallot", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6307" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002607", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:169500" }, "publicationId": "MIM:169500" }, "phenotypeStatement": "Bowel incontinence", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002607", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21225301" }, "publicationId": "PMID:21225301" }, "phenotypeStatement": "Bowel incontinence", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:604864" }, "publicationId": "MIM:604864" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:1975693" }, "publicationId": "PMID:1975693" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616583" }, "publicationId": "MIM:616583" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26183434" }, "publicationId": "PMID:26183434" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2200" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:139411" }, "publicationId": "ORPHA:139411" }, "phenotypeStatement": "Headache", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10682" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:190900" }, "publicationId": "MIM:190900" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620344" }, "publicationId": "MIM:620344" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:30304" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14702087" }, "publicationId": "PMID:14702087" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:30304" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17698770" }, "publicationId": "PMID:17698770" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:30304" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19818506" }, "publicationId": "PMID:19818506" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:30304" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002304", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620923" }, "publicationId": "MIM:620923" }, "phenotypeStatement": "Akinesia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002304", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38614108" }, "publicationId": "PMID:38614108" }, "phenotypeStatement": "Akinesia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001561", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621012" }, "publicationId": "MIM:621012" }, "phenotypeStatement": "Polyhydramnios", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001561", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39442041" }, "publicationId": "PMID:39442041" }, "phenotypeStatement": "Polyhydramnios", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618363" }, "publicationId": "MIM:618363" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23088" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610915" }, "publicationId": "MIM:610915" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17277775" }, "publicationId": "PMID:17277775" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008897", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:289157" }, "publicationId": "ORPHA:289157" }, "phenotypeStatement": "Postnatal growth retardation", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:20580" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:226307" }, "publicationId": "ORPHA:226307" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21734" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001317", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:137675" }, "publicationId": "ORPHA:137675" }, "phenotypeStatement": "Abnormal cerebellum morphology", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:7427" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617988" }, "publicationId": "MIM:617988" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29449720" }, "publicationId": "PMID:29449720" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38118446" }, "publicationId": "PMID:38118446" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613803" }, "publicationId": "MIM:613803" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17151" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003180", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617102" }, "publicationId": "MIM:617102" }, "phenotypeStatement": "Flat acetabular roof", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15901" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100295", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:254886" }, "publicationId": "ORPHA:254886" }, "phenotypeStatement": "Muscle fiber atrophy", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:11992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613563" }, "publicationId": "MIM:613563" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1541" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20543203" }, "publicationId": "PMID:20543203" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1541" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610442" }, "publicationId": "MIM:610442" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27213289" }, "publicationId": "PMID:27213289" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19237" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2554" }, "publicationId": "ORPHA:2554" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:24576" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620923" }, "publicationId": "MIM:620923" }, "phenotypeStatement": "Tremor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38614108" }, "publicationId": "PMID:38614108" }, "phenotypeStatement": "Tremor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000527", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Long eyelashes", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000527", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31124279" }, "publicationId": "PMID:31124279" }, "phenotypeStatement": "Long eyelashes", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614219" }, "publicationId": "MIM:614219" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19189" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21820096" }, "publicationId": "PMID:21820096" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:19189" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010469", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Absent testis", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:30078" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:564" }, "publicationId": "ORPHA:564" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:29168" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000268", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300989" }, "publicationId": "MIM:300989" }, "phenotypeStatement": "Dolichocephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1044" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000268", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27632686" }, "publicationId": "PMID:27632686" }, "phenotypeStatement": "Dolichocephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1044" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:148050" }, "publicationId": "MIM:148050" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37226940" }, "publicationId": "PMID:37226940" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2332" }, "publicationId": "ORPHA:2332" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:261250" }, "publicationId": "ORPHA:261250" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Growth delay", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:26171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620931" }, "publicationId": "MIM:620931" }, "phenotypeStatement": "Muscle weakness", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001324", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38422122" }, "publicationId": "PMID:38422122" }, "phenotypeStatement": "Muscle weakness", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:17722" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616331" }, "publicationId": "MIM:616331" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3084" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25817016" }, "publicationId": "PMID:25817016" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:3084" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001290", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619051" }, "publicationId": "MIM:619051" }, "phenotypeStatement": "Generalized hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2280" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001290", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24781756" }, "publicationId": "PMID:24781756" }, "phenotypeStatement": "Generalized hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:2280" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:108145" }, "publicationId": "MIM:108145" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:114300" }, "publicationId": "MIM:114300" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:376" }, "publicationId": "ORPHA:376" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1154" }, "publicationId": "ORPHA:1154" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000767", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2461" }, "publicationId": "ORPHA:2461" }, "phenotypeStatement": "Pectus excavatum", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611040" }, "publicationId": "MIM:611040" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17167404" }, "publicationId": "PMID:17167404" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011304", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616894" }, "publicationId": "MIM:616894" }, "phenotypeStatement": "Broad thumb", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011304", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26924530" }, "publicationId": "PMID:26924530" }, "phenotypeStatement": "Broad thumb", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616079" }, "publicationId": "MIM:616079" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6174" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24026677" }, "publicationId": "PMID:24026677" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6174" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:567" }, "publicationId": "ORPHA:567" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10449" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:269500" }, "publicationId": "MIM:269500" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:13771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11179006" }, "publicationId": "PMID:11179006" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:13771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:602093" }, "publicationId": "MIM:602093" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:4678" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621067" }, "publicationId": "MIM:621067" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10717" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37943610" }, "publicationId": "PMID:37943610" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10717" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617425" }, "publicationId": "MIM:617425" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28132690" }, "publicationId": "PMID:28132690" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:508533" }, "publicationId": "ORPHA:508533" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617169" }, "publicationId": "MIM:617169" }, "phenotypeStatement": "Relative macrocephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24036" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004482", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25753423" }, "publicationId": "PMID:25753423" }, "phenotypeStatement": "Relative macrocephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24036" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002921", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:254886" }, "publicationId": "ORPHA:254886" }, "phenotypeStatement": "Abnormal cerebrospinal fluid morphology", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10451" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608393" }, "publicationId": "MIM:608393" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17272" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20978018" }, "publicationId": "PMID:20978018" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17272" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2512" }, "publicationId": "ORPHA:2512" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17272" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:151800" }, "publicationId": "MIM:151800" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18458227" }, "publicationId": "PMID:18458227" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617087" }, "publicationId": "MIM:617087" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18458227" }, "publicationId": "PMID:18458227" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601152" }, "publicationId": "MIM:601152" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16437557" }, "publicationId": "PMID:16437557" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002372", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:602066" }, "publicationId": "MIM:602066" }, "phenotypeStatement": "Normal interictal EEG", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:30500" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002372", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:306" }, "publicationId": "ORPHA:306" }, "phenotypeStatement": "Normal interictal EEG", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:30500" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:180105" }, "publicationId": "MIM:180105" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26720483" }, "publicationId": "PMID:26720483" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6052" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616577" }, "publicationId": "MIM:616577" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18119" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26299366" }, "publicationId": "PMID:26299366" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18119" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:457351" }, "publicationId": "ORPHA:457351" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18119" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612001" }, "publicationId": "MIM:612001" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:13672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19372089" }, "publicationId": "PMID:19372089" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:13672" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619476" }, "publicationId": "MIM:619476" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28220259" }, "publicationId": "PMID:28220259" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2754" }, "publicationId": "ORPHA:2754" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:475" }, "publicationId": "ORPHA:475" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610759" }, "publicationId": "MIM:610759" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17273969" }, "publicationId": "PMID:17273969" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28781842" }, "publicationId": "PMID:28781842" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199" }, "publicationId": "ORPHA:199" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2468" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001142", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:104200" }, "publicationId": "MIM:104200" }, "phenotypeStatement": "Lenticonus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2204" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000668", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615777" }, "publicationId": "MIM:615777" }, "phenotypeStatement": "Hypodontia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15516" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:254886" }, "publicationId": "ORPHA:254886" }, "phenotypeStatement": "Mitochondrial myopathy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004467", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620771" }, "publicationId": "MIM:620771" }, "phenotypeStatement": "Preauricular pit", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14630" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004467", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37947183" }, "publicationId": "PMID:37947183" }, "phenotypeStatement": "Preauricular pit", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14630" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000533", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98973" }, "publicationId": "ORPHA:98973" }, "phenotypeStatement": "Chorioretinal atrophy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301132" }, "publicationId": "MIM:301132" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38158857" }, "publicationId": "PMID:38158857" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001347", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:261600" }, "publicationId": "MIM:261600" }, "phenotypeStatement": "Hyperreflexia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:8582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001635", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621010" }, "publicationId": "MIM:621010" }, "phenotypeStatement": "Congestive heart failure", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001635", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39106866" }, "publicationId": "PMID:39106866" }, "phenotypeStatement": "Congestive heart failure", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612289" }, "publicationId": "MIM:612289" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:20662" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300661" }, "publicationId": "MIM:300661" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22246954" }, "publicationId": "PMID:22246954" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:411543" }, "publicationId": "ORPHA:411543" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9462" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613038" }, "publicationId": "MIM:613038" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9210" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:226307" }, "publicationId": "ORPHA:226307" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9210" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610168" }, "publicationId": "MIM:610168" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15731757" }, "publicationId": "PMID:15731757" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16283890" }, "publicationId": "PMID:16283890" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19875893" }, "publicationId": "PMID:19875893" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11773" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001363", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Craniosynostosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14906" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:85173" }, "publicationId": "ORPHA:85173" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1786" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001635", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:264800" }, "publicationId": "MIM:264800" }, "phenotypeStatement": "Congestive heart failure", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001635", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23935882" }, "publicationId": "PMID:23935882" }, "phenotypeStatement": "Congestive heart failure", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001635", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614473" }, "publicationId": "MIM:614473" }, "phenotypeStatement": "Congestive heart failure", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001635", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16573612" }, "publicationId": "PMID:16573612" }, "phenotypeStatement": "Congestive heart failure", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:57" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000954", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:73272" }, "publicationId": "ORPHA:73272" }, "phenotypeStatement": "Single transverse palmar crease", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:5464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000541", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:193230" }, "publicationId": "MIM:193230" }, "phenotypeStatement": "Retinal detachment", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6259" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000541", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14644728" }, "publicationId": "PMID:14644728" }, "phenotypeStatement": "Retinal detachment", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6259" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10254" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613795" }, "publicationId": "MIM:613795" }, "phenotypeStatement": "Patent ductus arteriosus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21217753" }, "publicationId": "PMID:21217753" }, "phenotypeStatement": "Patent ductus arteriosus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:284984" }, "publicationId": "ORPHA:284984" }, "phenotypeStatement": "Patent ductus arteriosus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Patent ductus arteriosus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Patent ductus arteriosus", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011858", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607473" }, "publicationId": "MIM:607473" }, "phenotypeStatement": "Reduced factor IX activity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011858", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98434" }, "publicationId": "ORPHA:98434" }, "phenotypeStatement": "Reduced factor IX activity", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:23663" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:230000" }, "publicationId": "MIM:230000" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4006" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36352683" }, "publicationId": "PMID:36352683" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4006" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:349" }, "publicationId": "ORPHA:349" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:4006" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005484", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620987" }, "publicationId": "MIM:620987" }, "phenotypeStatement": "Secondary microcephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005484", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38128568" }, "publicationId": "PMID:38128568" }, "phenotypeStatement": "Secondary microcephaly", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619264" }, "publicationId": "MIM:619264" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:27609" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32869858" }, "publicationId": "PMID:32869858" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:27609" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612572" }, "publicationId": "MIM:612572" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:5385" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18806796" }, "publicationId": "PMID:18806796" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:5385" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616364" }, "publicationId": "MIM:616364" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26739615" }, "publicationId": "PMID:26739615" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:468678" }, "publicationId": "ORPHA:468678" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18801" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616831" }, "publicationId": "MIM:616831" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620155" }, "publicationId": "MIM:620155" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32710489" }, "publicationId": "PMID:32710489" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620157" }, "publicationId": "MIM:620157" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32710489" }, "publicationId": "PMID:32710489" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:18420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001332", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620786" }, "publicationId": "MIM:620786" }, "phenotypeStatement": "Dystonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25875" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001332", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38480682" }, "publicationId": "PMID:38480682" }, "phenotypeStatement": "Dystonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25875" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001332", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1980" }, "publicationId": "ORPHA:1980" }, "phenotypeStatement": "Dystonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25875" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001519", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619656" }, "publicationId": "MIM:619656" }, "phenotypeStatement": "Disproportionate tall stature", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001519", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26247899" }, "publicationId": "PMID:26247899" }, "phenotypeStatement": "Disproportionate tall stature", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6768" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000070", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Ureterocele", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:1392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619701" }, "publicationId": "MIM:619701" }, "phenotypeStatement": "Failure to thrive", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28017472" }, "publicationId": "PMID:28017472" }, "phenotypeStatement": "Failure to thrive", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620038" }, "publicationId": "MIM:620038" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9537" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32129449" }, "publicationId": "PMID:32129449" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:9537" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002509", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617710" }, "publicationId": "MIM:617710" }, "phenotypeStatement": "Limb hypertonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12730" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002509", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:238455" }, "publicationId": "ORPHA:238455" }, "phenotypeStatement": "Limb hypertonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12730" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002509", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:572798" }, "publicationId": "ORPHA:572798" }, "phenotypeStatement": "Limb hypertonia", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:12730" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612943" }, "publicationId": "MIM:612943" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15646" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19520207" }, "publicationId": "PMID:19520207" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:15646" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:248370" }, "publicationId": "MIM:248370" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14627682" }, "publicationId": "PMID:14627682" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:740" }, "publicationId": "ORPHA:740" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000678", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617168" }, "publicationId": "MIM:617168" }, "phenotypeStatement": "Dental crowding", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:6664" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614441" }, "publicationId": "MIM:614441" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10955" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23509104" }, "publicationId": "PMID:23509104" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:43.000-06:00", "objectId": "HGNC:10955" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620964" }, "publicationId": "MIM:620964" }, "phenotypeStatement": "Ophthalmoplegia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:14201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000602", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39209426" }, "publicationId": "PMID:39209426" }, "phenotypeStatement": "Ophthalmoplegia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:14201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004942", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:286" }, "publicationId": "ORPHA:286" }, "phenotypeStatement": "Aortic aneurysm", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620962" }, "publicationId": "MIM:620962" }, "phenotypeStatement": "Elevated circulating alkaline phosphatase concentration", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003155", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39132680" }, "publicationId": "PMID:39132680" }, "phenotypeStatement": "Elevated circulating alkaline phosphatase concentration", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9529" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:26171" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001680", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:402075" }, "publicationId": "ORPHA:402075" }, "phenotypeStatement": "Coarctation of aorta", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:17985" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601776" }, "publicationId": "MIM:601776" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:152700" }, "publicationId": "MIM:152700" }, "phenotypeStatement": "Lupus nephritis", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26342222" }, "publicationId": "PMID:26342222" }, "phenotypeStatement": "Lupus nephritis", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536" }, "publicationId": "ORPHA:536" }, "phenotypeStatement": "Lupus nephritis", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:245600" }, "publicationId": "MIM:245600" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:923" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31438591" }, "publicationId": "PMID:31438591" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:923" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615802" }, "publicationId": "MIM:615802" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:25712" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24784135" }, "publicationId": "PMID:24784135" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:25712" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005484", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621012" }, "publicationId": "MIM:621012" }, "phenotypeStatement": "Secondary microcephaly", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005484", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39442041" }, "publicationId": "PMID:39442041" }, "phenotypeStatement": "Secondary microcephaly", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:101200" }, "publicationId": "MIM:101200" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:101400" }, "publicationId": "MIM:101400" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012368", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:87" }, "publicationId": "ORPHA:87" }, "phenotypeStatement": "Flat face", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003302", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609192" }, "publicationId": "MIM:609192" }, "phenotypeStatement": "Spondylolisthesis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003302", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16596670" }, "publicationId": "PMID:16596670" }, "phenotypeStatement": "Spondylolisthesis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:200990" }, "publicationId": "MIM:200990" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19619433" }, "publicationId": "PMID:19619433" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000193", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2189" }, "publicationId": "ORPHA:2189" }, "phenotypeStatement": "Bifid uvula", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:30497" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618021" }, "publicationId": "MIM:618021" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:28583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29769720" }, "publicationId": "PMID:29769720" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:28583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618022" }, "publicationId": "MIM:618022" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:28583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29769720" }, "publicationId": "PMID:29769720" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:28583" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:100800" }, "publicationId": "MIM:100800" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16411219" }, "publicationId": "PMID:16411219" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:146000" }, "publicationId": "MIM:146000" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10777366" }, "publicationId": "PMID:10777366" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1860" }, "publicationId": "ORPHA:1860" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616482" }, "publicationId": "MIM:616482" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10377013" }, "publicationId": "PMID:10377013" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:794" }, "publicationId": "ORPHA:794" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:15" }, "publicationId": "ORPHA:15" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93274" }, "publicationId": "ORPHA:93274" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:244" }, "publicationId": "ORPHA:244" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:26383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001634", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613795" }, "publicationId": "MIM:613795" }, "phenotypeStatement": "Mitral valve prolapse", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001634", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21778426" }, "publicationId": "PMID:21778426" }, "phenotypeStatement": "Mitral valve prolapse", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001634", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32154675" }, "publicationId": "PMID:32154675" }, "phenotypeStatement": "Mitral valve prolapse", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001772", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:130070" }, "publicationId": "MIM:130070" }, "phenotypeStatement": "Talipes equinovalgus", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:930" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618150" }, "publicationId": "MIM:618150" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:18620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30290151" }, "publicationId": "PMID:30290151" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:18620" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607906" }, "publicationId": "MIM:607906" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:23159" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33644825" }, "publicationId": "PMID:33644825" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:23159" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615058" }, "publicationId": "MIM:615058" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:24783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23246293" }, "publicationId": "PMID:23246293" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:24783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616629" }, "publicationId": "MIM:616629" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:17861" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26487268" }, "publicationId": "PMID:26487268" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:17861" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3156" }, "publicationId": "ORPHA:3156" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:17861" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611209" }, "publicationId": "MIM:611209" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6545" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:259770" }, "publicationId": "MIM:259770" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21407258" }, "publicationId": "PMID:21407258" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:891" }, "publicationId": "ORPHA:891" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000568", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2788" }, "publicationId": "ORPHA:2788" }, "phenotypeStatement": "Microphthalmia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6697" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000678", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:193700" }, "publicationId": "MIM:193700" }, "phenotypeStatement": "Dental crowding", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:7573" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000678", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16510655" }, "publicationId": "PMID:16510655" }, "phenotypeStatement": "Dental crowding", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:7573" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002164", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:158000" }, "publicationId": "MIM:158000" }, "phenotypeStatement": "Nail dysplasia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:6458" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100608", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Metrorrhagia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:4440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:847" }, "publicationId": "ORPHA:847" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:886" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2554" }, "publicationId": "ORPHA:2554" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:1744" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008997", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621094" }, "publicationId": "MIM:621094" }, "phenotypeStatement": "Proximal upper limb muscle weakness", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008997", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37907725" }, "publicationId": "PMID:37907725" }, "phenotypeStatement": "Proximal upper limb muscle weakness", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008997", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621095" }, "publicationId": "MIM:621095" }, "phenotypeStatement": "Proximal upper limb muscle weakness", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008997", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28754666" }, "publicationId": "PMID:28754666" }, "phenotypeStatement": "Proximal upper limb muscle weakness", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:939" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:268300" }, "publicationId": "MIM:268300" }, "phenotypeStatement": "Blue sclerae", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:27230" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3103" }, "publicationId": "ORPHA:3103" }, "phenotypeStatement": "Blue sclerae", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:27230" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:123790" }, "publicationId": "MIM:123790" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18247426" }, "publicationId": "PMID:18247426" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93259" }, "publicationId": "ORPHA:93259" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2363" }, "publicationId": "ORPHA:2363" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:602111" }, "publicationId": "MIM:602111" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:7159" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002014", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601847" }, "publicationId": "MIM:601847" }, "phenotypeStatement": "Diarrhea", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:42" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004305", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Involuntary movements", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004305", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:98784" }, "publicationId": "ORPHA:98784" }, "phenotypeStatement": "Involuntary movements", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621012" }, "publicationId": "MIM:621012" }, "phenotypeStatement": "Ventriculomegaly", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002119", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39442041" }, "publicationId": "PMID:39442041" }, "phenotypeStatement": "Ventriculomegaly", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:48626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620887" }, "publicationId": "MIM:620887" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37107710" }, "publicationId": "PMID:37107710" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37481223" }, "publicationId": "PMID:37481223" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:3642" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000490", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:139210" }, "publicationId": "MIM:139210" }, "phenotypeStatement": "Deeply set eye", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:6770" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:447980" }, "publicationId": "ORPHA:447980" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:7788" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:254886" }, "publicationId": "ORPHA:254886" }, "phenotypeStatement": "Cognitive impairment", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:11992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3303" }, "publicationId": "ORPHA:3303" }, "phenotypeStatement": "Broad forehead", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:15802" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615080" }, "publicationId": "MIM:615080" }, "phenotypeStatement": "Dementia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:17761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618193" }, "publicationId": "MIM:618193" }, "phenotypeStatement": "Dementia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:17761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15883308" }, "publicationId": "PMID:15883308" }, "phenotypeStatement": "Dementia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:17761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1020" }, "publicationId": "ORPHA:1020" }, "phenotypeStatement": "Dementia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:17761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000726", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:100069" }, "publicationId": "ORPHA:100069" }, "phenotypeStatement": "Dementia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:17761" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300707" }, "publicationId": "MIM:300707" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:28434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28225384" }, "publicationId": "PMID:28225384" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:28434" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001649", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:605373" }, "publicationId": "MIM:605373" }, "phenotypeStatement": "Tachycardia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:10682" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001649", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:139411" }, "publicationId": "ORPHA:139411" }, "phenotypeStatement": "Tachycardia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:10682" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100337", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199306" }, "publicationId": "ORPHA:199306" }, "phenotypeStatement": "Bilateral cleft palate", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:1748" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:125250" }, "publicationId": "MIM:125250" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12566046" }, "publicationId": "PMID:12566046" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:165500" }, "publicationId": "MIM:165500" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:8140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:215470" }, "publicationId": "MIM:215470" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24355708" }, "publicationId": "PMID:24355708" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:16268" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608380" }, "publicationId": "MIM:608380" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21699" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14681825" }, "publicationId": "PMID:14681825" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21699" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21699" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Anemia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001903", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34888090" }, "publicationId": "PMID:34888090" }, "phenotypeStatement": "Anemia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613983" }, "publicationId": "MIM:613983" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15860" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21549338" }, "publicationId": "PMID:21549338" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15860" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003016", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:321" }, "publicationId": "ORPHA:321" }, "phenotypeStatement": "Metaphyseal widening", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3513" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620923" }, "publicationId": "MIM:620923" }, "phenotypeStatement": "Gastric ulcer", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38858457" }, "publicationId": "PMID:38858457" }, "phenotypeStatement": "Gastric ulcer", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601776" }, "publicationId": "MIM:601776" }, "phenotypeStatement": "Blue sclerae", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20503305" }, "publicationId": "PMID:20503305" }, "phenotypeStatement": "Blue sclerae", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2953" }, "publicationId": "ORPHA:2953" }, "phenotypeStatement": "Blue sclerae", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:85201" }, "publicationId": "ORPHA:85201" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:218400" }, "publicationId": "MIM:218400" }, "phenotypeStatement": "Coarse facial features", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:4274" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:169500" }, "publicationId": "MIM:169500" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001257", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:99027" }, "publicationId": "ORPHA:99027" }, "phenotypeStatement": "Spasticity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6637" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601553" }, "publicationId": "MIM:601553" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35996915" }, "publicationId": "PMID:35996915" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1762" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:153700" }, "publicationId": "MIM:153700" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12703" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:193220" }, "publicationId": "MIM:193220" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12703" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15452077" }, "publicationId": "PMID:15452077" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12703" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613194" }, "publicationId": "MIM:613194" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12703" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19853238" }, "publicationId": "PMID:19853238" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12703" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:255800" }, "publicationId": "MIM:255800" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:5273" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002673", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:800" }, "publicationId": "ORPHA:800" }, "phenotypeStatement": "Coxa valga", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:5273" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010615", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:122" }, "publicationId": "ORPHA:122" }, "phenotypeStatement": "Angiofibromas", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:27310" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011153", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Focal motor seizure", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:94063" }, "publicationId": "ORPHA:94063" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:5009" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:603467" }, "publicationId": "MIM:603467" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3587" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27714961" }, "publicationId": "PMID:27714961" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3587" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31288759" }, "publicationId": "PMID:31288759" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3587" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:84" }, "publicationId": "ORPHA:84" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3587" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009803", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:600373" }, "publicationId": "MIM:600373" }, "phenotypeStatement": "Short phalanx of finger", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9479" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000954", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Single transverse palmar crease", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000954", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Single transverse palmar crease", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:457395" }, "publicationId": "ORPHA:457395" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10447" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615420" }, "publicationId": "MIM:615420" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26575" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23579484" }, "publicationId": "PMID:23579484" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26575" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001956", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618363" }, "publicationId": "MIM:618363" }, "phenotypeStatement": "Truncal obesity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23088" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611209" }, "publicationId": "MIM:611209" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6545" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19008299" }, "publicationId": "PMID:19008299" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6545" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:263508" }, "publicationId": "ORPHA:263508" }, "phenotypeStatement": "Short long bone", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6545" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008897", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93325" }, "publicationId": "ORPHA:93325" }, "phenotypeStatement": "Postnatal growth retardation", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24725" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611209" }, "publicationId": "MIM:611209" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6545" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19008299" }, "publicationId": "PMID:19008299" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6545" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002342", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:263508" }, "publicationId": "ORPHA:263508" }, "phenotypeStatement": "Moderate intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6545" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:156250" }, "publicationId": "MIM:156250" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20577567" }, "publicationId": "PMID:20577567" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21533187" }, "publicationId": "PMID:21533187" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:648" }, "publicationId": "ORPHA:648" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:163950" }, "publicationId": "MIM:163950" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15240615" }, "publicationId": "PMID:15240615" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9644" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002059", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Cerebral atrophy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:166780" }, "publicationId": "MIM:166780" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3519" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16441263" }, "publicationId": "PMID:16441263" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3519" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616722" }, "publicationId": "MIM:616722" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:31582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26056285" }, "publicationId": "PMID:26056285" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:31582" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003555", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608810" }, "publicationId": "MIM:608810" }, "phenotypeStatement": "Muscle fiber splitting", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:256500" }, "publicationId": "MIM:256500" }, "phenotypeStatement": "Malnutrition", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004395", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34138484" }, "publicationId": "PMID:34138484" }, "phenotypeStatement": "Malnutrition", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15464" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617023" }, "publicationId": "MIM:617023" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26147" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26720455" }, "publicationId": "PMID:26720455" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26147" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26147" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000286", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:794" }, "publicationId": "ORPHA:794" }, "phenotypeStatement": "Epicanthus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3689" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:215" }, "publicationId": "ORPHA:215" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:397590" }, "publicationId": "ORPHA:397590" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:5009" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6000246", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:600721" }, "publicationId": "MIM:600721" }, "phenotypeStatement": "Elevated CSF D-2-hydroxyglutaric acid concentration", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:28358" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6000246", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20020533" }, "publicationId": "PMID:20020533" }, "phenotypeStatement": "Elevated CSF D-2-hydroxyglutaric acid concentration", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:28358" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:6000246", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79315" }, "publicationId": "ORPHA:79315" }, "phenotypeStatement": "Elevated CSF D-2-hydroxyglutaric acid concentration", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:28358" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:239300" }, "publicationId": "MIM:239300" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20080219" }, "publicationId": "PMID:20080219" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:247262" }, "publicationId": "ORPHA:247262" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26031" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1465" }, "publicationId": "ORPHA:1465" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9964" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:600373" }, "publicationId": "MIM:600373" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9479" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010049", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1458" }, "publicationId": "ORPHA:1458" }, "phenotypeStatement": "Short metacarpal", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9479" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613464" }, "publicationId": "MIM:613464" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:20087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20451172" }, "publicationId": "PMID:20451172" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:20087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:110" }, "publicationId": "ORPHA:110" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:20087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:20087" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:215140" }, "publicationId": "MIM:215140" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12618959" }, "publicationId": "PMID:12618959" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618019" }, "publicationId": "MIM:618019" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23824842" }, "publicationId": "PMID:23824842" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6518" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001065", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Striae distensae", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9853" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012378", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231178" }, "publicationId": "ORPHA:231178" }, "phenotypeStatement": "Fatigue", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:26257" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002311", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620964" }, "publicationId": "MIM:620964" }, "phenotypeStatement": "Incoordination", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002311", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39209426" }, "publicationId": "PMID:39209426" }, "phenotypeStatement": "Incoordination", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001531", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60" }, "publicationId": "ORPHA:60" }, "phenotypeStatement": "Failure to thrive in infancy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:8941" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002360", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231178" }, "publicationId": "ORPHA:231178" }, "phenotypeStatement": "Sleep disturbance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:7606" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:266920" }, "publicationId": "MIM:266920" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29077" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28288023" }, "publicationId": "PMID:28288023" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29077" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:474" }, "publicationId": "ORPHA:474" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29077" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009084", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301132" }, "publicationId": "MIM:301132" }, "phenotypeStatement": "Midline notch of upper alveolar ridge", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009084", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38158857" }, "publicationId": "PMID:38158857" }, "phenotypeStatement": "Midline notch of upper alveolar ridge", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2050" }, "publicationId": "ORPHA:2050" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2379" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615503" }, "publicationId": "MIM:615503" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21862" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:313400" }, "publicationId": "MIM:313400" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:23068" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:14755465" }, "publicationId": "PMID:14755465" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:23068" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93284" }, "publicationId": "ORPHA:93284" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:23068" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617304" }, "publicationId": "MIM:617304" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:30078" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001133", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27889058" }, "publicationId": "PMID:27889058" }, "phenotypeStatement": "Constriction of peripheral visual field", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:30078" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614863" }, "publicationId": "MIM:614863" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:8859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3220" }, "publicationId": "ORPHA:3220" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:8859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615058" }, "publicationId": "MIM:615058" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:24783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23246293" }, "publicationId": "PMID:23246293" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:24783" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616202" }, "publicationId": "MIM:616202" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11551" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25561519" }, "publicationId": "PMID:25561519" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11551" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:113620" }, "publicationId": "MIM:113620" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11742" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000689", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613795" }, "publicationId": "MIM:613795" }, "phenotypeStatement": "Dental malocclusion", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000689", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29392890" }, "publicationId": "PMID:29392890" }, "phenotypeStatement": "Dental malocclusion", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000689", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:284984" }, "publicationId": "ORPHA:284984" }, "phenotypeStatement": "Dental malocclusion", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:264090" }, "publicationId": "MIM:264090" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:30074" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607694" }, "publicationId": "MIM:607694" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:30074" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21855841" }, "publicationId": "PMID:21855841" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:30074" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3107" }, "publicationId": "ORPHA:3107" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002197", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617988" }, "publicationId": "MIM:617988" }, "phenotypeStatement": "Generalized-onset seizure", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002197", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30790272" }, "publicationId": "PMID:30790272" }, "phenotypeStatement": "Generalized-onset seizure", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619598" }, "publicationId": "MIM:619598" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:19980" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36097642" }, "publicationId": "PMID:36097642" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:19980" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:605130" }, "publicationId": "MIM:605130" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:7132" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:36291481" }, "publicationId": "PMID:36291481" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:7132" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000105", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620939" }, "publicationId": "MIM:620939" }, "phenotypeStatement": "Enlarged kidney", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000105", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29784638" }, "publicationId": "PMID:29784638" }, "phenotypeStatement": "Enlarged kidney", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618098" }, "publicationId": "MIM:618098" }, "phenotypeStatement": "Dysphagia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:11992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29290614" }, "publicationId": "PMID:29290614" }, "phenotypeStatement": "Dysphagia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:11992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002015", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:254886" }, "publicationId": "ORPHA:254886" }, "phenotypeStatement": "Dysphagia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:11992" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613795" }, "publicationId": "MIM:613795" }, "phenotypeStatement": "Pneumothorax", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29392890" }, "publicationId": "PMID:29392890" }, "phenotypeStatement": "Pneumothorax", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002107", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pneumothorax", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:6769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:253250" }, "publicationId": "MIM:253250" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:7523" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7726235" }, "publicationId": "PMID:7726235" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:7523" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1667" }, "publicationId": "ORPHA:1667" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:46.000-06:00", "objectId": "HGNC:3255" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:276820" }, "publicationId": "MIM:276820" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:12786" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001636", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617159" }, "publicationId": "MIM:617159" }, "phenotypeStatement": "Tetralogy of Fallot", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:1919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001636", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27479907" }, "publicationId": "PMID:27479907" }, "phenotypeStatement": "Tetralogy of Fallot", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:1919" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615582" }, "publicationId": "MIM:615582" }, "phenotypeStatement": "Tall stature", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25835445" }, "publicationId": "PMID:25835445" }, "phenotypeStatement": "Tall stature", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Tall stature", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Tall stature", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:122470" }, "publicationId": "MIM:122470" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:28862" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30246735" }, "publicationId": "PMID:30246735" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:28862" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31337854" }, "publicationId": "PMID:31337854" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:28862" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:199" }, "publicationId": "ORPHA:199" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:28862" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614181" }, "publicationId": "MIM:614181" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6816" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21835304" }, "publicationId": "PMID:21835304" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6816" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6816" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002656", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:607078" }, "publicationId": "MIM:607078" }, "phenotypeStatement": "Epiphyseal dysplasia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6909" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000044", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614842" }, "publicationId": "MIM:614842" }, "phenotypeStatement": "Hypogonadotropic hypogonadism", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6341" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000044", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22335740" }, "publicationId": "PMID:22335740" }, "phenotypeStatement": "Hypogonadotropic hypogonadism", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6341" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000044", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:432" }, "publicationId": "ORPHA:432" }, "phenotypeStatement": "Hypogonadotropic hypogonadism", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6341" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004447", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613566" }, "publicationId": "MIM:613566" }, "phenotypeStatement": "Poikilocytosis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004447", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20676099" }, "publicationId": "PMID:20676099" }, "phenotypeStatement": "Poikilocytosis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004447", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613673" }, "publicationId": "MIM:613673" }, "phenotypeStatement": "Poikilocytosis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004447", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23522491" }, "publicationId": "PMID:23522491" }, "phenotypeStatement": "Poikilocytosis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004447", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28265383" }, "publicationId": "PMID:28265383" }, "phenotypeStatement": "Poikilocytosis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6345" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000303", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:301132" }, "publicationId": "MIM:301132" }, "phenotypeStatement": "Mandibular prognathia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000303", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38158857" }, "publicationId": "PMID:38158857" }, "phenotypeStatement": "Mandibular prognathia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:23019" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:152700" }, "publicationId": "MIM:152700" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536" }, "publicationId": "ORPHA:536" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001250", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:900" }, "publicationId": "ORPHA:900" }, "phenotypeStatement": "Seizure", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9652" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003623", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620910" }, "publicationId": "MIM:620910" }, "phenotypeStatement": "Neonatal onset", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:12997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003623", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38386308" }, "publicationId": "PMID:38386308" }, "phenotypeStatement": "Neonatal onset", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:12997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000678", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619329" }, "publicationId": "MIM:619329" }, "phenotypeStatement": "Dental crowding", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2209" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000678", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32938213" }, "publicationId": "PMID:32938213" }, "phenotypeStatement": "Dental crowding", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2209" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:252930" }, "publicationId": "MIM:252930" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:26527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20825431" }, "publicationId": "PMID:20825431" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:26527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616544" }, "publicationId": "MIM:616544" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:26527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25859010" }, "publicationId": "PMID:25859010" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:26527" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2754" }, "publicationId": "ORPHA:2754" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:475" }, "publicationId": "ORPHA:475" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:29110" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231169" }, "publicationId": "ORPHA:231169" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:24579" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001852", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Sandal gap", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:29366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616723" }, "publicationId": "MIM:616723" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:29420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000750", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26365341" }, "publicationId": "PMID:26365341" }, "phenotypeStatement": "Delayed speech and language development", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:29420" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618027" }, "publicationId": "MIM:618027" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9964" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29429572" }, "publicationId": "PMID:29429572" }, "phenotypeStatement": "Hypotonia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9964" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000518", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:250984" }, "publicationId": "ORPHA:250984" }, "phenotypeStatement": "Cataract", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2219" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002187", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:309900" }, "publicationId": "MIM:309900" }, "phenotypeStatement": "Profound intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:5389" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618220" }, "publicationId": "MIM:618220" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:17211" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24737827" }, "publicationId": "PMID:24737827" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:17211" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:17211" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001262", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619539" }, "publicationId": "MIM:619539" }, "phenotypeStatement": "Excessive daytime somnolence", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:29217" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001262", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29556724" }, "publicationId": "PMID:29556724" }, "phenotypeStatement": "Excessive daytime somnolence", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:29217" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008734", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614840" }, "publicationId": "MIM:614840" }, "phenotypeStatement": "Decreased testicular size", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11528" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008734", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:432" }, "publicationId": "ORPHA:432" }, "phenotypeStatement": "Decreased testicular size", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11528" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008734", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:478" }, "publicationId": "ORPHA:478" }, "phenotypeStatement": "Decreased testicular size", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11528" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:7745" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0009803", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612350" }, "publicationId": "MIM:612350" }, "phenotypeStatement": "Short phalanx of finger", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:20859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002840", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620931" }, "publicationId": "MIM:620931" }, "phenotypeStatement": "Lymphadenitis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002840", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38422122" }, "publicationId": "PMID:38422122" }, "phenotypeStatement": "Lymphadenitis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613731" }, "publicationId": "MIM:613731" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33777460" }, "publicationId": "PMID:33777460" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617988" }, "publicationId": "MIM:617988" }, "phenotypeStatement": "Axial hypotonia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29449720" }, "publicationId": "PMID:29449720" }, "phenotypeStatement": "Axial hypotonia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30790272" }, "publicationId": "PMID:30790272" }, "phenotypeStatement": "Axial hypotonia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008936", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38118446" }, "publicationId": "PMID:38118446" }, "phenotypeStatement": "Axial hypotonia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003016", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:321" }, "publicationId": "ORPHA:321" }, "phenotypeStatement": "Metaphyseal widening", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3512" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:271665" }, "publicationId": "MIM:271665" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2731" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19110212" }, "publicationId": "PMID:19110212" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2731" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20223752" }, "publicationId": "PMID:20223752" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2731" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93387" }, "publicationId": "ORPHA:93387" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9607" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012434", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Delayed early-childhood social milestone development", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0012434", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Delayed early-childhood social milestone development", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001639", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615119" }, "publicationId": "MIM:615119" }, "phenotypeStatement": "Hypertrophic cardiomyopathy", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2263" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001639", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12474143" }, "publicationId": "PMID:12474143" }, "phenotypeStatement": "Hypertrophic cardiomyopathy", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2263" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611131" }, "publicationId": "MIM:611131" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:7974" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011462", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17564971" }, "publicationId": "PMID:17564971" }, "phenotypeStatement": "Young adult onset", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:7974" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000098", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Tall stature", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:7569" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620931" }, "publicationId": "MIM:620931" }, "phenotypeStatement": "Eczematoid dermatitis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000964", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38422122" }, "publicationId": "PMID:38422122" }, "phenotypeStatement": "Eczematoid dermatitis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620999" }, "publicationId": "MIM:620999" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:34519" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35142290" }, "publicationId": "PMID:35142290" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:34519" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616468" }, "publicationId": "MIM:616468" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:20041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:23716654" }, "publicationId": "PMID:23716654" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:20041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616469" }, "publicationId": "MIM:616469" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:20041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25882705" }, "publicationId": "PMID:25882705" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:20041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:20041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:891" }, "publicationId": "ORPHA:891" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:20041" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001273", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Abnormal corpus callosum morphology", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:215100" }, "publicationId": "MIM:215100" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:8860" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000826", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Precocious puberty", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:1392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620985" }, "publicationId": "MIM:620985" }, "phenotypeStatement": "Macrocephaly", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38815585" }, "publicationId": "PMID:38815585" }, "phenotypeStatement": "Macrocephaly", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011001", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3152" }, "publicationId": "ORPHA:3152" }, "phenotypeStatement": "Increased bone mineral density", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:13771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616562" }, "publicationId": "MIM:616562" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25541840" }, "publicationId": "PMID:25541840" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:110" }, "publicationId": "ORPHA:110" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:967" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002574", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:251992" }, "publicationId": "ORPHA:251992" }, "phenotypeStatement": "Episodic abdominal pain", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:427" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615349" }, "publicationId": "MIM:615349" }, "phenotypeStatement": "Frontal bossing", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29931299" }, "publicationId": "PMID:29931299" }, "phenotypeStatement": "Frontal bossing", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:536467" }, "publicationId": "ORPHA:536467" }, "phenotypeStatement": "Frontal bossing", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001635", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:166210" }, "publicationId": "MIM:166210" }, "phenotypeStatement": "Congestive heart failure", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2197" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:600138" }, "publicationId": "MIM:600138" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15446" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20939871" }, "publicationId": "PMID:20939871" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15446" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:15446" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000340", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:156400" }, "publicationId": "MIM:156400" }, "phenotypeStatement": "Sloping forehead", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9608" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000340", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39830149" }, "publicationId": "PMID:39830149" }, "phenotypeStatement": "Sloping forehead", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9608" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003688", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619052" }, "publicationId": "MIM:619052" }, "phenotypeStatement": "Cytochrome C oxidase-negative muscle fibers", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003688", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20727754" }, "publicationId": "PMID:20727754" }, "phenotypeStatement": "Cytochrome C oxidase-negative muscle fibers", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:24316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620888" }, "publicationId": "MIM:620888" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:4669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001272", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38118446" }, "publicationId": "PMID:38118446" }, "phenotypeStatement": "Cerebellar atrophy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:4669" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011877", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Increased mean platelet volume", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17994" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617433" }, "publicationId": "MIM:617433" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17090" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28132693" }, "publicationId": "PMID:28132693" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:17090" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618821" }, "publicationId": "MIM:618821" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25123" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30478137" }, "publicationId": "PMID:30478137" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25123" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:120970" }, "publicationId": "MIM:120970" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9610810" }, "publicationId": "PMID:9610810" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:118450" }, "publicationId": "MIM:118450" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6188" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9207787" }, "publicationId": "PMID:9207787" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6188" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:187500" }, "publicationId": "MIM:187500" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6188" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619574" }, "publicationId": "MIM:619574" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6188" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32065591" }, "publicationId": "PMID:32065591" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6188" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617992" }, "publicationId": "MIM:617992" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6188" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12022040" }, "publicationId": "PMID:12022040" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6188" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0100775", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Dural ectasia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9414" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001105", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Retinal atrophy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:28486" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617710" }, "publicationId": "MIM:617710" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12730" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011968", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:238455" }, "publicationId": "ORPHA:238455" }, "phenotypeStatement": "Feeding difficulties", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12730" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010982", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610149" }, "publicationId": "MIM:610149" }, "phenotypeStatement": "Polygenic inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9476" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:268300" }, "publicationId": "MIM:268300" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:27230" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000470", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3103" }, "publicationId": "ORPHA:3103" }, "phenotypeStatement": "Short neck", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:27230" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002373", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1934" }, "publicationId": "ORPHA:1934" }, "phenotypeStatement": "Febrile seizure (within the age range of 3 months to 6 years)", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:1392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:609192" }, "publicationId": "MIM:609192" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16596670" }, "publicationId": "PMID:16596670" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:60030" }, "publicationId": "ORPHA:60030" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001763", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:91387" }, "publicationId": "ORPHA:91387" }, "phenotypeStatement": "Pes planus", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11772" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000411", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Protruding ear", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000411", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31124279" }, "publicationId": "PMID:31124279" }, "phenotypeStatement": "Protruding ear", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000411", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Protruding ear", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300106" }, "publicationId": "MIM:300106" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:1044" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601539" }, "publicationId": "MIM:601539" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:8850" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:772" }, "publicationId": "ORPHA:772" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:8850" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001631", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:567" }, "publicationId": "ORPHA:567" }, "phenotypeStatement": "Atrial septal defect", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11592" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011304", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617137" }, "publicationId": "MIM:617137" }, "phenotypeStatement": "Broad thumb", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011304", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27426733" }, "publicationId": "PMID:27426733" }, "phenotypeStatement": "Broad thumb", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011304", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1826" }, "publicationId": "ORPHA:1826" }, "phenotypeStatement": "Broad thumb", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6859" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613428" }, "publicationId": "MIM:613428" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:34383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:34383" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:136140" }, "publicationId": "MIM:136140" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:16974" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619595" }, "publicationId": "MIM:619595" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:16974" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33909990" }, "publicationId": "PMID:33909990" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:16974" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:259775" }, "publicationId": "MIM:259775" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:22140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000520", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1832" }, "publicationId": "ORPHA:1832" }, "phenotypeStatement": "Proptosis", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:22140" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612394" }, "publicationId": "MIM:612394" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18834968" }, "publicationId": "PMID:18834968" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9083" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614134" }, "publicationId": "MIM:614134" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2217" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:21421862" }, "publicationId": "PMID:21421862" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2217" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:244200" }, "publicationId": "MIM:244200" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:15836" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18559922" }, "publicationId": "PMID:18559922" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:15836" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3157" }, "publicationId": "ORPHA:3157" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:15836" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:95496" }, "publicationId": "ORPHA:95496" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:15836" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:478" }, "publicationId": "ORPHA:478" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:15836" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000028", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:432" }, "publicationId": "ORPHA:432" }, "phenotypeStatement": "Cryptorchidism", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:15836" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002123", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:551" }, "publicationId": "ORPHA:551" }, "phenotypeStatement": "Generalized myoclonic seizure", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:7487" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:165300" }, "publicationId": "MIM:165300" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:8142" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15342707" }, "publicationId": "PMID:15342707" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:8142" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618728" }, "publicationId": "MIM:618728" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31630789" }, "publicationId": "PMID:31630789" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10303" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:230000" }, "publicationId": "MIM:230000" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4006" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9039984" }, "publicationId": "PMID:9039984" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4006" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:109400" }, "publicationId": "MIM:109400" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9585" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610828" }, "publicationId": "MIM:610828" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9585" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17001668" }, "publicationId": "PMID:17001668" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9585" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93924" }, "publicationId": "ORPHA:93924" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9585" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93926" }, "publicationId": "ORPHA:93926" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9585" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93925" }, "publicationId": "ORPHA:93925" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9585" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:220386" }, "publicationId": "ORPHA:220386" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9585" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:280200" }, "publicationId": "ORPHA:280200" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9585" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300653" }, "publicationId": "MIM:300653" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:8896" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003621", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:1547346" }, "publicationId": "PMID:1547346" }, "phenotypeStatement": "Juvenile onset", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:8896" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001508", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:83471" }, "publicationId": "ORPHA:83471" }, "phenotypeStatement": "Failure to thrive", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:12765" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002019", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620964" }, "publicationId": "MIM:620964" }, "phenotypeStatement": "Constipation", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:14201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002019", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39209426" }, "publicationId": "PMID:39209426" }, "phenotypeStatement": "Constipation", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:14201" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617604" }, "publicationId": "MIM:617604" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2993" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28191891" }, "publicationId": "PMID:28191891" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2993" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:169150" }, "publicationId": "MIM:169150" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7710395" }, "publicationId": "PMID:7710395" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:827" }, "publicationId": "ORPHA:827" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:608161" }, "publicationId": "MIM:608161" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8485576" }, "publicationId": "PMID:8485576" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:75377" }, "publicationId": "ORPHA:75377" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9942" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619701" }, "publicationId": "MIM:619701" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34800363" }, "publicationId": "PMID:34800363" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000821", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:621010" }, "publicationId": "MIM:621010" }, "phenotypeStatement": "Hypothyroidism", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000821", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:39106866" }, "publicationId": "PMID:39106866" }, "phenotypeStatement": "Hypothyroidism", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9972" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:208230" }, "publicationId": "MIM:208230" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:12771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000938", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:231070" }, "publicationId": "MIM:231070" }, "phenotypeStatement": "Osteopenia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:25676" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000938", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18348262" }, "publicationId": "PMID:18348262" }, "phenotypeStatement": "Osteopenia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:25676" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000252", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:228415" }, "publicationId": "ORPHA:228415" }, "phenotypeStatement": "Microcephaly", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:14234" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001629", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:271640" }, "publicationId": "MIM:271640" }, "phenotypeStatement": "Ventricular septal defect", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:17978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002643", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:79345" }, "publicationId": "ORPHA:79345" }, "phenotypeStatement": "Neonatal respiratory distress", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:719" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000505", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619701" }, "publicationId": "MIM:619701" }, "phenotypeStatement": "Visual impairment", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000505", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34800363" }, "publicationId": "PMID:34800363" }, "phenotypeStatement": "Visual impairment", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:25590" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620985" }, "publicationId": "MIM:620985" }, "phenotypeStatement": "Thin corpus callosum", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0033725", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38815585" }, "publicationId": "PMID:38815585" }, "phenotypeStatement": "Thin corpus callosum", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616269" }, "publicationId": "MIM:616269" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:31399" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:25704603" }, "publicationId": "PMID:25704603" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:31399" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:457212" }, "publicationId": "ORPHA:457212" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:31399" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:216550" }, "publicationId": "MIM:216550" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000662", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12446373" }, "publicationId": "PMID:12446373" }, "phenotypeStatement": "Nyctalopia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:2183" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006298", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:231200" }, "publicationId": "MIM:231200" }, "phenotypeStatement": "Prolonged bleeding after dental extraction", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006298", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9616133" }, "publicationId": "PMID:9616133" }, "phenotypeStatement": "Prolonged bleeding after dental extraction", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006298", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Prolonged bleeding after dental extraction", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0006298", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:274" }, "publicationId": "ORPHA:274" }, "phenotypeStatement": "Prolonged bleeding after dental extraction", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4440" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:110" }, "publicationId": "ORPHA:110" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:18626" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:210370" }, "publicationId": "MIM:210370" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:23198" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15937078" }, "publicationId": "PMID:15937078" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:23198" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:231680" }, "publicationId": "MIM:231680" }, "phenotypeStatement": "Early young adult onset", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3482" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0025708", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:19249206" }, "publicationId": "PMID:19249206" }, "phenotypeStatement": "Early young adult onset", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3482" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0040185", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:140957" }, "publicationId": "ORPHA:140957" }, "phenotypeStatement": "Macrothrombocytopenia", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6156" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:612474" }, "publicationId": "MIM:612474" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4279" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18784092" }, "publicationId": "PMID:18784092" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4279" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004209", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3303" }, "publicationId": "ORPHA:3303" }, "phenotypeStatement": "Clinodactyly of the 5th finger", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:4279" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011150", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620985" }, "publicationId": "MIM:620985" }, "phenotypeStatement": "Myoclonic absence seizure", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011150", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38815585" }, "publicationId": "PMID:38815585" }, "phenotypeStatement": "Myoclonic absence seizure", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:25544" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000529", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1872" }, "publicationId": "ORPHA:1872" }, "phenotypeStatement": "Progressive visual loss", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:28486" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:236670" }, "publicationId": "MIM:236670" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:17997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010864", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:370968" }, "publicationId": "ORPHA:370968" }, "phenotypeStatement": "Severe intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:17997" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000007", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:601360" }, "publicationId": "MIM:601360" }, "phenotypeStatement": "Autosomal recessive inheritance", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:11603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:210600" }, "publicationId": "MIM:210600" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:882" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:882" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002970", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:201000" }, "publicationId": "MIM:201000" }, "phenotypeStatement": "Genu varum", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:14263" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617506" }, "publicationId": "MIM:617506" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9282" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:27868344" }, "publicationId": "PMID:27868344" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:9282" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002894", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:145" }, "publicationId": "ORPHA:145" }, "phenotypeStatement": "Neoplasm of the pancreas", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:795" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002894", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:440437" }, "publicationId": "ORPHA:440437" }, "phenotypeStatement": "Neoplasm of the pancreas", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:795" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002315", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:139411" }, "publicationId": "ORPHA:139411" }, "phenotypeStatement": "Headache", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10681" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001595", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:210750" }, "publicationId": "MIM:210750" }, "phenotypeStatement": "Abnormal hair morphology", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10978" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:220386" }, "publicationId": "ORPHA:220386" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:7865" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93924" }, "publicationId": "ORPHA:93924" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:7865" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93926" }, "publicationId": "ORPHA:93926" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:7865" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93925" }, "publicationId": "ORPHA:93925" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:7865" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000175", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:280200" }, "publicationId": "ORPHA:280200" }, "phenotypeStatement": "Cleft palate", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:7865" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613330" }, "publicationId": "MIM:613330" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000768", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20004766" }, "publicationId": "PMID:20004766" }, "phenotypeStatement": "Pectus carinatum", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:951" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:204100" }, "publicationId": "MIM:204100" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12960219" }, "publicationId": "PMID:12960219" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16505055" }, "publicationId": "PMID:16505055" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007663", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:364055" }, "publicationId": "ORPHA:364055" }, "phenotypeStatement": "Reduced visual acuity", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000343", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:110" }, "publicationId": "ORPHA:110" }, "phenotypeStatement": "Long philtrum", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:7121" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:150250" }, "publicationId": "MIM:150250" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:503" }, "publicationId": "ORPHA:503" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:3755" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:17090" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:224410" }, "publicationId": "MIM:224410" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:5273" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11279527" }, "publicationId": "PMID:11279527" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:5273" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0003510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1865" }, "publicationId": "ORPHA:1865" }, "phenotypeStatement": "Severe short stature", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:5273" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:204100" }, "publicationId": "MIM:204100" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12960219" }, "publicationId": "PMID:12960219" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16505055" }, "publicationId": "PMID:16505055" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:364055" }, "publicationId": "ORPHA:364055" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613794" }, "publicationId": "MIM:613794" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007843", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:9326941" }, "publicationId": "PMID:9326941" }, "phenotypeStatement": "Attenuation of retinal blood vessels", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:10294" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000543", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:791" }, "publicationId": "ORPHA:791" }, "phenotypeStatement": "Optic disc pallor", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:15865" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:1340" }, "publicationId": "ORPHA:1340" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:6842" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:275210" }, "publicationId": "MIM:275210" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:12877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:15317753" }, "publicationId": "PMID:15317753" }, "phenotypeStatement": "Fetal onset", "dateAssigned": "2026-02-09T16:12:45.000-06:00", "objectId": "HGNC:12877" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:129600" }, "publicationId": "MIM:129600" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:12446365" }, "publicationId": "PMID:12446365" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22219643" }, "publicationId": "PMID:22219643" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22736615" }, "publicationId": "PMID:22736615" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31527767" }, "publicationId": "PMID:31527767" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:32404357" }, "publicationId": "PMID:32404357" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33576469" }, "publicationId": "PMID:33576469" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:8188302" }, "publicationId": "PMID:8188302" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:184900" }, "publicationId": "MIM:184900" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:20375004" }, "publicationId": "PMID:20375004" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2462" }, "publicationId": "ORPHA:2462" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:154700" }, "publicationId": "MIM:154700" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:28050285" }, "publicationId": "PMID:28050285" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29587526" }, "publicationId": "PMID:29587526" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33436942" }, "publicationId": "PMID:33436942" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000545", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:2623" }, "publicationId": "ORPHA:2623" }, "phenotypeStatement": "Myopia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3603" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000977", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617988" }, "publicationId": "MIM:617988" }, "phenotypeStatement": "Soft skin", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000977", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:30790272" }, "publicationId": "PMID:30790272" }, "phenotypeStatement": "Soft skin", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:4670" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001382", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:157973" }, "publicationId": "ORPHA:157973" }, "phenotypeStatement": "Joint hypermobility", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6636" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:121050" }, "publicationId": "MIM:121050" }, "phenotypeStatement": "Kyphoscoliosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002751", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:7815423" }, "publicationId": "PMID:7815423" }, "phenotypeStatement": "Kyphoscoliosis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3604" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620987" }, "publicationId": "MIM:620987" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000365", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38128568" }, "publicationId": "PMID:38128568" }, "phenotypeStatement": "Hearing impairment", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:37247" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000718", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:300088" }, "publicationId": "MIM:300088" }, "phenotypeStatement": "Aggressive behavior", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000718", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:714652" }, "publicationId": "ORPHA:714652" }, "phenotypeStatement": "Aggressive behavior", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:14270" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:619143" }, "publicationId": "MIM:619143" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9381" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:33058759" }, "publicationId": "PMID:33058759" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9381" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000774", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:289" }, "publicationId": "ORPHA:289" }, "phenotypeStatement": "Narrow chest", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:9381" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0004326", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:808" }, "publicationId": "ORPHA:808" }, "phenotypeStatement": "Cachexia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29366" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610733" }, "publicationId": "MIM:610733" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18925667" }, "publicationId": "PMID:18925667" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:11187" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:613862" }, "publicationId": "MIM:613862" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:7027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11062461" }, "publicationId": "PMID:11062461" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:7027" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:193230" }, "publicationId": "MIM:193230" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6259" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:18179896" }, "publicationId": "PMID:18179896" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:6259" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001649", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:115310" }, "publicationId": "MIM:115310" }, "phenotypeStatement": "Tachycardia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10681" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001649", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:139411" }, "publicationId": "ORPHA:139411" }, "phenotypeStatement": "Tachycardia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10681" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:164210" }, "publicationId": "MIM:164210" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000006", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34344887" }, "publicationId": "PMID:34344887" }, "phenotypeStatement": "Autosomal dominant inheritance", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:10769" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:615986" }, "publicationId": "MIM:615986" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:30000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0007737", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:34212515" }, "publicationId": "PMID:34212515" }, "phenotypeStatement": "Spicular pigmentation of the retina", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:30000" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93271" }, "publicationId": "ORPHA:93271" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:2962" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008897", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:611291" }, "publicationId": "MIM:611291" }, "phenotypeStatement": "Postnatal growth retardation", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25737" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008897", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:16439204" }, "publicationId": "PMID:16439204" }, "phenotypeStatement": "Postnatal growth retardation", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25737" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008897", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35812385" }, "publicationId": "PMID:35812385" }, "phenotypeStatement": "Postnatal growth retardation", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25737" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0008897", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37703920" }, "publicationId": "PMID:37703920" }, "phenotypeStatement": "Postnatal growth retardation", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:25737" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620937" }, "publicationId": "MIM:620937" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:35652444" }, "publicationId": "PMID:35652444" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:20759" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001875", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614082" }, "publicationId": "MIM:614082" }, "phenotypeStatement": "Decreased total neutrophil count", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001875", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11093276" }, "publicationId": "PMID:11093276" }, "phenotypeStatement": "Decreased total neutrophil count", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3588" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002401", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:550" }, "publicationId": "ORPHA:550" }, "phenotypeStatement": "Stroke-like episode", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:7487" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001270", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231169" }, "publicationId": "ORPHA:231169" }, "phenotypeStatement": "Motor delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:13281" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001644", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:161800" }, "publicationId": "MIM:161800" }, "phenotypeStatement": "Dilated cardiomyopathy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:129" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001644", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:171430" }, "publicationId": "ORPHA:171430" }, "phenotypeStatement": "Dilated cardiomyopathy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:129" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000926", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:93315" }, "publicationId": "ORPHA:93315" }, "phenotypeStatement": "Platyspondyly", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3778" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618317" }, "publicationId": "MIM:618317" }, "phenotypeStatement": "Cerebellar dentate nucleus calcification", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19918" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0002461", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29910000" }, "publicationId": "PMID:29910000" }, "phenotypeStatement": "Cerebellar dentate nucleus calcification", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19918" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:620931" }, "publicationId": "MIM:620931" }, "phenotypeStatement": "Decreased total B cell count", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0010976", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:38422122" }, "publicationId": "PMID:38422122" }, "phenotypeStatement": "Decreased total B cell count", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:21290" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:269921" }, "publicationId": "MIM:269921" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23657" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10330343" }, "publicationId": "PMID:10330343" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23657" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001256", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:3166" }, "publicationId": "ORPHA:3166" }, "phenotypeStatement": "Mild intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:23657" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:135900" }, "publicationId": "MIM:135900" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:22405089" }, "publicationId": "PMID:22405089" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001263", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:251056" }, "publicationId": "ORPHA:251056" }, "phenotypeStatement": "Global developmental delay", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18040" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:268000" }, "publicationId": "MIM:268000" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:614180" }, "publicationId": "MIM:614180" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:276902" }, "publicationId": "MIM:276902" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:11524702" }, "publicationId": "PMID:11524702" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000510", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:231183" }, "publicationId": "ORPHA:231183" }, "phenotypeStatement": "Rod-cone dystrophy", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12605" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:146000" }, "publicationId": "MIM:146000" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:616482" }, "publicationId": "MIM:616482" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10377013" }, "publicationId": "PMID:10377013" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:35099" }, "publicationId": "ORPHA:35099" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:429" }, "publicationId": "ORPHA:429" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:602849" }, "publicationId": "MIM:602849" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:26740388" }, "publicationId": "PMID:26740388" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610474" }, "publicationId": "MIM:610474" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17033969" }, "publicationId": "PMID:17033969" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:24864036" }, "publicationId": "PMID:24864036" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:3690" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617879" }, "publicationId": "MIM:617879" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:20771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0011463", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:29198720" }, "publicationId": "PMID:29198720" }, "phenotypeStatement": "Childhood onset", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:20771" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000938", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:610915" }, "publicationId": "MIM:610915" }, "phenotypeStatement": "Osteopenia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000938", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:17277775" }, "publicationId": "PMID:17277775" }, "phenotypeStatement": "Osteopenia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:19316" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0005280", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:617925" }, "publicationId": "MIM:617925" }, "phenotypeStatement": "Depressed nasal bridge", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29239" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:168500" }, "publicationId": "MIM:168500" }, "phenotypeStatement": "Blue sclerae", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:7392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000592", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:10742103" }, "publicationId": "PMID:10742103" }, "phenotypeStatement": "Blue sclerae", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:7392" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001629", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Ventricular septal defect", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001629", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Ventricular septal defect", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000473", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:618505" }, "publicationId": "MIM:618505" }, "phenotypeStatement": "Torticollis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000473", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:31124279" }, "publicationId": "PMID:31124279" }, "phenotypeStatement": "Torticollis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0000473", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "PMID:37196654" }, "publicationId": "PMID:37196654" }, "phenotypeStatement": "Torticollis", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:29012" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001290", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:442835" }, "publicationId": "ORPHA:442835" }, "phenotypeStatement": "Generalized hypotonia", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:18423" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0045026", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "ORPHA:251992" }, "publicationId": "ORPHA:251992" }, "phenotypeStatement": "Abnormal mediastinum morphology", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:427" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ], "evidence": { "crossReference": { "pages": [ "disease" ], "id": "MIM:180700" }, "publicationId": "MIM:180700" }, "phenotypeStatement": "Intellectual disability", "dateAssigned": "2026-02-09T16:12:44.000-06:00", "objectId": "HGNC:12784" }, { "phenotypeTermIdentifiers": [ { "termId": "HP:0001249", "termOrder": 1 } ],