#mapping_provider: RGD #mapping_tool: RGD SSSOM file generator #mapping_tool_version: RGD SSSOM File Generator -- build 2024-07-24 #mapping_set_id: https://download.rgd.mcw.edu/ontology/mappings/efo_hp_rgd.sssom.tsv.txt #mapping_set_title: All mappings of EFO terms to HP terms generated by RGD (draft version) #mapping_set_description: All mappings of EFO terms to HP terms generated by RGD (draft version) #license: https://creativecommons.org/licenses/by/4.0/ #object_source: obo:EFO #subject_source: obo:HP #curie_map: # EFO: http://purl.obolibrary.org/obo/EFO_ # HP: http://purl.obolibrary.org/obo/HP_ # skos: http://www.w3.org/2004/02/skos/core# # orcid: https://orcid.org/ # obo: http://purl.obolibrary.org/obo/ # semapv: https://w3id.org/semapv/vocab/ object_id object_label predicate_id subject_id subject_label mapping_justification mapping_date EFO:0000094 B-cell acute lymphoblastic leukemia skos:exactMatch HP:0004812 B Acute Lymphoblastic Leukemia semapv:ManualMappingCuration 2023-12-04 EFO:0000095 chronic lymphocytic leukemia skos:exactMatch HP:0005550 Chronic lymphatic leukemia semapv:ManualMappingCuration 2023-12-04 EFO:0000174 Ewing sarcoma skos:exactMatch HP:0012254 Ewing sarcoma semapv:ManualMappingCuration 2023-12-04 EFO:0000178 gastric carcinoma skos:exactMatch HP:0012126 Stomach cancer semapv:ManualMappingCuration 2023-12-04 EFO:0000182 hepatocellular carcinoma skos:exactMatch HP:0001402 Hepatocellular carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0000183 Hodgkins lymphoma skos:exactMatch HP:0012189 Hodgkin lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:0000198 myelodysplastic syndrome skos:exactMatch HP:0002863 Myelodysplasia semapv:ManualMappingCuration 2023-12-04 EFO:0000203 monoclonal gammopathy skos:exactMatch HP:0031047 Paraproteinemia semapv:ManualMappingCuration 2023-12-04 EFO:0000217 gastritis skos:exactMatch HP:0005263 Gastritis semapv:ManualMappingCuration 2022-01-24 EFO:0000220 acute lymphoblastic leukemia skos:exactMatch HP:0006721 Acute lymphoblastic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0000222 acute myeloid leukemia skos:exactMatch HP:0004808 Acute myeloid leukemia semapv:ManualMappingCuration 2023-12-04 EFO:0000248 alveolar rhabdomyosarcoma skos:exactMatch HP:0006779 Alveolar rhabdomyosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000274 atopic eczema skos:exactMatch HP:0001047 Atopic dermatitis semapv:ManualMappingCuration 2023-12-04 EFO:0000275 atrial fibrillation skos:exactMatch HP:0005110 Atrial fibrillation semapv:ManualMappingCuration 2022-01-24 EFO:0000278 pancreatitis skos:exactMatch HP:0001733 Pancreatitis semapv:ManualMappingCuration 2023-12-04 EFO:0000279 azoospermia skos:exactMatch HP:0000027 Azoospermia semapv:ManualMappingCuration 2023-12-04 EFO:0000280 Barrett's esophagus skos:exactMatch HP:0100580 Barrett esophagus semapv:ManualMappingCuration 2023-12-04 EFO:0000284 benign prostatic hyperplasia skos:exactMatch HP:0008711 Benign prostatic hyperplasia semapv:ManualMappingCuration 2022-01-24 EFO:0000305 breast carcinoma skos:exactMatch HP:0003002 Breast carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0000319 cardiovascular disease skos:exactMatch HP:0001626 Abnormality of the cardiovascular system semapv:ManualMappingCuration 2023-12-04 EFO:0000326 central nervous system cancer skos:exactMatch HP:0100836 Malignant neoplasm of the central nervous system semapv:ManualMappingCuration 2023-12-04 EFO:0000331 chondroblastoma skos:exactMatch HP:0030432 Chondroblastoma semapv:ManualMappingCuration 2022-01-24 EFO:0000333 chondrosarcoma skos:exactMatch HP:0006765 Chondrosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000337 chronic gastritis skos:exactMatch HP:0005231 Chronic gastritis semapv:ManualMappingCuration 2022-01-24 EFO:0000339 chronic myelogenous leukemia skos:exactMatch HP:0005506 Chronic myelogenous leukemia semapv:ManualMappingCuration 2023-12-04 EFO:0000341 chronic obstructive pulmonary disease skos:exactMatch HP:0006510 Chronic pulmonary obstruction semapv:ManualMappingCuration 2023-12-04 EFO:0000365 colorectal adenocarcinoma skos:exactMatch HP:0040275 Adenocarcinoma of the large intestine semapv:ManualMappingCuration 2023-12-04 EFO:0000373 congestive heart failure skos:exactMatch HP:0001635 Congestive heart failure semapv:ManualMappingCuration 2023-12-04 EFO:0000384 Crohn's disease skos:exactMatch HP:0100280 Crohn's disease semapv:ManualMappingCuration 2023-12-04 EFO:0000389 cutaneous melanoma skos:exactMatch HP:0012056 Cutaneous melanoma semapv:ManualMappingCuration 2022-01-24 EFO:0000400 diabetes mellitus skos:exactMatch HP:0000819 Diabetes mellitus semapv:ManualMappingCuration 2022-01-24 EFO:0000404 diffuse scleroderma skos:exactMatch HP:0100324 Scleroderma semapv:ManualMappingCuration 2023-12-04 EFO:0000405 digestive system disease skos:exactMatch HP:0011024 Abnormality of the gastrointestinal tract semapv:ManualMappingCuration 2023-12-04 EFO:0000405 digestive system disease skos:exactMatch HP:0025031 Abnormality of the digestive system semapv:ManualMappingCuration 2023-12-04 EFO:0000407 dilated cardiomyopathy skos:exactMatch HP:0001644 Dilated cardiomyopathy semapv:ManualMappingCuration 2022-01-24 EFO:0000437 embryonal rhabdomyosarcoma skos:exactMatch HP:0006743 Embryonal rhabdomyosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000464 emphysema skos:exactMatch HP:0002097 Emphysema semapv:ManualMappingCuration 2023-12-04 EFO:0000465 endocarditis skos:exactMatch HP:0100584 Endocarditis semapv:ManualMappingCuration 2022-01-24 EFO:0000474 epilepsy skos:exactMatch HP:0001250 Seizure semapv:ManualMappingCuration 2023-12-04 EFO:0000493 family history skos:exactMatch HP:0032316 Family history semapv:ManualMappingCuration 2023-12-04 EFO:0000499 follicular thyroid adenoma skos:exactMatch HP:0000854 Thyroid adenoma semapv:ManualMappingCuration 2023-03-06 EFO:0000500 ganglioneuroma skos:exactMatch HP:0003005 Ganglioneuroma semapv:ManualMappingCuration 2022-01-24 EFO:0000501 follicular thyroid carcinoma skos:exactMatch HP:0006731 Follicular thyroid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000502 ganglioneuroblastoma skos:exactMatch HP:0006747 Ganglioneuroblastoma semapv:ManualMappingCuration 2022-01-24 EFO:0000503 gastric adenocarcinoma skos:exactMatch HP:0033770 Gastric adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0000519 glioblastoma multiforme skos:exactMatch HP:0012174 Glioblastoma multiforme semapv:ManualMappingCuration 2022-01-24 EFO:0000519 glioblastoma multiforme skos:exactMatch HP:0100843 obsolete Glioblastoma semapv:ManualMappingCuration 2022-01-24 EFO:0000537 hypertension skos:exactMatch HP:0000822 Hypertension semapv:ManualMappingCuration 2022-01-24 EFO:0000538 hypertrophic cardiomyopathy skos:exactMatch HP:0001639 Hypertrophic cardiomyopathy semapv:ManualMappingCuration 2023-03-17 EFO:0000540 immune system disease skos:exactMatch HP:0002715 Abnormality of the immune system semapv:ManualMappingCuration 2023-12-04 EFO:0000558 Kaposi's sarcoma skos:exactMatch HP:0100726 Kaposi's sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000565 leukemia skos:exactMatch HP:0001909 Leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0000571 lung adenocarcinoma skos:exactMatch HP:0030078 Lung adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0000574 lymphoma skos:exactMatch HP:0002665 Lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:0000584 infectious meningitis skos:exactMatch HP:0001287 Meningitis semapv:ManualMappingCuration 2022-01-24 EFO:0000589 metabolic disease skos:exactMatch HP:0001939 Abnormality of metabolism/homeostasis semapv:ManualMappingCuration 2023-12-04 EFO:0000612 myocardial infarction skos:exactMatch HP:0001658 Myocardial infarction semapv:ManualMappingCuration 2022-01-24 EFO:0000616 neoplasm skos:exactMatch HP:0002664 Neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0000621 neuroblastoma skos:exactMatch HP:0003006 Neuroblastoma semapv:ManualMappingCuration 2023-12-04 EFO:0000625 nevus skos:exactMatch HP:0003764 Nevus semapv:ManualMappingCuration 2023-12-04 EFO:0000637 osteosarcoma skos:exactMatch HP:0002669 Osteosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000641 papillary thyroid carcinoma skos:exactMatch HP:0002895 Papillary thyroid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000649 periodontitis skos:exactMatch HP:0000704 Periodontitis semapv:ManualMappingCuration 2023-12-04 EFO:0000660 polycystic ovary syndrome skos:exactMatch HP:0000147 Polycystic ovaries semapv:ManualMappingCuration 2023-12-04 EFO:0000668 preeclampsia skos:exactMatch HP:0100602 Preeclampsia semapv:ManualMappingCuration 2023-12-04 EFO:0000676 psoriasis skos:exactMatch HP:0003765 Psoriasiform dermatitis semapv:ManualMappingCuration 2023-12-04 EFO:0000681 renal cell carcinoma skos:exactMatch HP:0005584 Renal cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000684 respiratory system disease skos:exactMatch HP:0002086 Abnormality of the respiratory system semapv:ManualMappingCuration 2023-12-04 EFO:0000685 rheumatoid arthritis skos:exactMatch HP:0001370 Rheumatoid arthritis semapv:ManualMappingCuration 2023-04-17 EFO:0000701 skin disease skos:exactMatch HP:0000951 Abnormality of the skin semapv:ManualMappingCuration 2023-12-04 EFO:0000702 small cell lung carcinoma skos:exactMatch HP:0030357 Small cell lung carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0000707 squamous cell carcinoma skos:exactMatch HP:0002860 Squamous cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0000708 squamous cell lung carcinoma skos:exactMatch HP:0030359 Squamous cell lung carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0000712 stroke skos:exactMatch HP:0001297 Stroke semapv:ManualMappingCuration 2022-01-24 EFO:0000713 subarachnoid hemorrhage skos:exactMatch HP:0002138 Subarachnoid hemorrhage semapv:ManualMappingCuration 2022-01-24 EFO:0000717 systemic scleroderma skos:exactMatch HP:0100324 Scleroderma semapv:ManualMappingCuration 2023-12-04 EFO:0000729 ulcerative colitis skos:exactMatch HP:0100279 Ulcerative colitis semapv:ManualMappingCuration 2022-01-24 EFO:0000731 uterine fibroid skos:exactMatch HP:0000131 Uterine leiomyoma semapv:ManualMappingCuration 2022-01-24 EFO:0000734 vitamin B12 deficiency skos:exactMatch HP:0100502 Decreased circulating vitamin B12 concentration semapv:ManualMappingCuration 2022-01-24 EFO:0000756 melanoma skos:exactMatch HP:0002861 Melanoma semapv:ManualMappingCuration 2022-01-24 EFO:0000768 idiopathic pulmonary fibrosis skos:exactMatch HP:0002206 Pulmonary fibrosis semapv:ManualMappingCuration 2023-12-04 EFO:0000769 Epstein-Barr virus infection skos:exactMatch HP:0031693 Severe Epstein Barr virus infection semapv:ManualMappingCuration 2023-12-04 EFO:0000769 Epstein-Barr virus infection skos:exactMatch HP:0032204 Chronic active Epstein-Barr virus infection semapv:ManualMappingCuration 2023-12-04 EFO:0000771 bacterial disease skos:exactMatch HP:0032260 Opportunistic bacterial infection semapv:ManualMappingCuration 2023-12-04 EFO:0000783 myositis skos:exactMatch HP:0100614 Myositis semapv:ManualMappingCuration 2023-12-04 EFO:0001060 celiac disease skos:exactMatch HP:0002608 Celiac disease semapv:ManualMappingCuration 2023-12-04 EFO:0001061 cervical carcinoma skos:exactMatch HP:0030079 Cervix cancer semapv:ManualMappingCuration 2023-12-04 EFO:0001062 cytomegalovirus infection skos:exactMatch HP:0031692 Severe cytomegalovirus infection semapv:ManualMappingCuration 2023-12-04 EFO:0001063 deafness skos:exactMatch HP:0000365 Hearing impairment semapv:ManualMappingCuration 2023-12-04 EFO:0001065 endometriosis skos:exactMatch HP:0030127 Endometriosis semapv:ManualMappingCuration 2022-01-24 EFO:0001072 memory impairment skos:exactMatch HP:0002354 Memory impairment semapv:ManualMappingCuration 2023-12-04 EFO:0001073 obesity skos:exactMatch HP:0001513 Obesity semapv:ManualMappingCuration 2022-01-24 EFO:0001075 ovarian carcinoma skos:exactMatch HP:0025318 Ovarian carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0001358 post-traumatic stress disorder skos:exactMatch HP:0033676 Posttraumatic stress symptom semapv:ManualMappingCuration 2023-12-04 EFO:0001361 pulmonary arterial hypertension skos:exactMatch HP:0002092 Pulmonary arterial hypertension semapv:ManualMappingCuration 2023-12-04 EFO:0001365 age-related macular degeneration skos:exactMatch HP:0000608 Macular degeneration semapv:ManualMappingCuration 2023-12-04 EFO:0001376 synovial sarcoma skos:exactMatch HP:0012570 Synovial sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0001378 multiple myeloma skos:exactMatch HP:0006775 Multiple myeloma semapv:ManualMappingCuration 2023-12-04 EFO:0001421 liver disease skos:exactMatch HP:0001392 Abnormality of the liver semapv:ManualMappingCuration 2023-12-04 EFO:0001422 cirrhosis of liver skos:exactMatch HP:0001394 Cirrhosis semapv:ManualMappingCuration 2023-12-04 EFO:0001645 coronary artery disease skos:exactMatch HP:0001677 Coronary artery atherosclerosis semapv:ManualMappingCuration 2023-12-04 EFO:0001663 prostate carcinoma skos:exactMatch HP:0012125 Prostate cancer semapv:ManualMappingCuration 2023-12-04 EFO:0001666 aortic aneurysm skos:exactMatch HP:0004942 Aortic aneurysm semapv:ManualMappingCuration 2022-01-24 EFO:0001668 human papilloma virus infection skos:exactMatch HP:0020114 Persistent human papillomavirus infection semapv:ManualMappingCuration 2023-12-04 EFO:0002087 fibrosarcoma skos:exactMatch HP:0100244 Fibrosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0002423 osteoma skos:exactMatch HP:0100246 Osteoma semapv:ManualMappingCuration 2022-01-24 EFO:0002496 actinic keratosis skos:exactMatch HP:0025127 Actinic keratosis semapv:ManualMappingCuration 2022-01-24 EFO:0002503 cardiac hypertrophy skos:exactMatch HP:0001640 Cardiomegaly semapv:ManualMappingCuration 2023-12-04 EFO:0002509 progressive external ophthalmoplegia skos:exactMatch HP:0000590 Progressive external ophthalmoplegia semapv:ManualMappingCuration 2022-01-24 EFO:0002546 abnormal glucose tolerance skos:exactMatch HP:0001952 Glucose intolerance semapv:ManualMappingCuration 2022-01-24 EFO:0002609 juvenile idiopathic arthritis skos:exactMatch HP:0005681 Juvenile rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:0002610 cocaine dependence skos:exactMatch HP:0033513 Addictive cocaine use semapv:ManualMappingCuration 2023-12-04 EFO:0002614 insulin resistance skos:exactMatch HP:0000855 Insulin resistance semapv:ManualMappingCuration 2022-01-24 EFO:0002627 vulvar intraepithelial neoplasia skos:exactMatch HP:0032202 Vulvar intraepithelial neoplasia semapv:ManualMappingCuration 2023-12-04 EFO:0002689 antiphospholipid syndrome skos:exactMatch HP:0003613 Antiphospholipid antibody positivity semapv:ManualMappingCuration 2023-12-04 EFO:0002892 thyroid carcinoma skos:exactMatch HP:0002890 Thyroid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0002893 choriocarcinoma skos:exactMatch HP:0100768 Choriocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0002916 esophageal carcinoma skos:exactMatch HP:0011459 Esophageal carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0002918 rhabdomyosarcoma skos:exactMatch HP:0002859 Rhabdomyosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0003015 aggressive behavior skos:exactMatch HP:0000718 Aggressive behavior semapv:ManualMappingCuration 2023-12-04 EFO:0003033 bacteriemia skos:exactMatch HP:0031864 Bacteremia semapv:ManualMappingCuration 2023-12-04 EFO:0003035 cellulitis skos:exactMatch HP:0100658 Cellulitis semapv:ManualMappingCuration 2022-01-24 EFO:0003060 non-small cell lung carcinoma skos:exactMatch HP:0030358 Non-small cell lung carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0003075 xanthoma skos:exactMatch HP:0001114 Xanthelasma semapv:ManualMappingCuration 2022-01-24 EFO:0003086 kidney disease skos:exactMatch HP:0000077 Abnormality of the kidney semapv:ManualMappingCuration 2023-12-04 EFO:0003086 kidney disease skos:exactMatch HP:0000112 Nephropathy semapv:ManualMappingCuration 2023-12-04 EFO:0003095 non-alcoholic fatty liver disease skos:exactMatch HP:0001397 Hepatic steatosis semapv:ManualMappingCuration 2023-12-04 EFO:0003100 peripheral neuropathy skos:exactMatch HP:0009830 Peripheral neuropathy semapv:ManualMappingCuration 2023-12-04 EFO:0003101 testicular seminoma skos:exactMatch HP:0100617 Testicular seminoma semapv:ManualMappingCuration 2022-01-24 EFO:0003102 osteomyelitis skos:exactMatch HP:0002754 Osteomyelitis semapv:ManualMappingCuration 2022-01-24 EFO:0003104 adrenocortical adenoma skos:exactMatch HP:0008256 Adrenocortical adenoma semapv:ManualMappingCuration 2022-01-24 EFO:0003105 spina bifida skos:exactMatch HP:0002414 Spina bifida semapv:ManualMappingCuration 2022-01-24 EFO:0003106 pneumonia skos:exactMatch HP:0002090 Pneumonia semapv:ManualMappingCuration 2023-12-04 EFO:0003108 essential tremor skos:exactMatch HP:0030186 Kinetic tremor semapv:ManualMappingCuration 2023-12-04 EFO:0003144 heart failure skos:exactMatch HP:0001635 Congestive heart failure semapv:ManualMappingCuration 2023-12-04 EFO:0003756 autism spectrum disorder skos:exactMatch HP:0000729 Autistic behavior semapv:ManualMappingCuration 2023-12-04 EFO:0003758 autism skos:exactMatch HP:0000717 Autism semapv:ManualMappingCuration 2022-01-24 EFO:0003760 central nervous system cyst skos:exactMatch HP:0030724 Central nervous system cyst semapv:ManualMappingCuration 2022-01-24 EFO:0003762 vitamin D deficiency skos:exactMatch HP:0100512 Decreased circulating vitamin D concentration semapv:ManualMappingCuration 2023-12-04 EFO:0003764 transient ischemic attack skos:exactMatch HP:0002326 Transient ischemic attack semapv:ManualMappingCuration 2022-01-24 EFO:0003767 inflammatory bowel disease skos:exactMatch HP:0002037 Inflammation of the large intestine semapv:ManualMappingCuration 2023-12-04 EFO:0003768 nicotine dependence skos:exactMatch HP:0033543 Addictive nicotine use semapv:ManualMappingCuration 2023-12-04 EFO:0003779 Hashimoto's thyroiditis skos:exactMatch HP:0000872 Hashimoto thyroiditis semapv:ManualMappingCuration 2023-12-04 EFO:0003819 dental caries skos:exactMatch HP:0000670 Carious teeth semapv:ManualMappingCuration 2023-12-04 EFO:0003827 pulmonary embolism skos:exactMatch HP:0002204 Pulmonary embolism semapv:ManualMappingCuration 2022-01-24 EFO:0003830 prostatitis skos:exactMatch HP:0000024 Prostatitis semapv:ManualMappingCuration 2022-01-24 EFO:0003833 brain neoplasm skos:exactMatch HP:0030692 Brain neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:0003839 retinopathy skos:exactMatch HP:0000488 Retinopathy semapv:ManualMappingCuration 2023-12-04 EFO:0003843 pain skos:exactMatch HP:0012531 Pain semapv:ManualMappingCuration 2023-12-04 EFO:0003853 respiratory system neoplasm skos:exactMatch HP:0100606 Neoplasm of the respiratory system semapv:ManualMappingCuration 2022-01-24 EFO:0003855 intestinal polyp skos:exactMatch HP:0005266 Intestinal polyp semapv:ManualMappingCuration 2022-01-24 EFO:0003866 paranasal sinus neoplasm skos:exactMatch HP:0030072 Paranasal sinus neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0003867 rhabdomyolysis skos:exactMatch HP:0003201 Rhabdomyolysis semapv:ManualMappingCuration 2023-12-04 EFO:0003869 breast neoplasm skos:exactMatch HP:0100013 Neoplasm of the breast semapv:ManualMappingCuration 2022-01-24 EFO:0003870 brain aneurysm skos:exactMatch HP:0004944 Dilatation of the cerebral artery semapv:ManualMappingCuration 2023-12-04 EFO:0003872 colitis skos:exactMatch HP:0002583 Colitis semapv:ManualMappingCuration 2022-01-24 EFO:0003877 sleep apnea skos:exactMatch HP:0010535 Sleep apnea semapv:ManualMappingCuration 2022-01-24 EFO:0003878 urethritis skos:exactMatch HP:0500006 Urethritis semapv:ManualMappingCuration 2022-01-24 EFO:0003882 osteoporosis skos:exactMatch HP:0000939 Osteoporosis semapv:ManualMappingCuration 2023-12-04 EFO:0003884 chronic kidney disease skos:exactMatch HP:0012622 Chronic kidney disease semapv:ManualMappingCuration 2023-12-04 EFO:0003888 attention deficit hyperactivity disorder skos:exactMatch HP:0007018 Attention deficit hyperactivity disorder semapv:ManualMappingCuration 2023-12-04 EFO:0003890 drug dependence skos:exactMatch HP:0033511 Addictive substance use semapv:ManualMappingCuration 2023-12-04 EFO:0003891 biliary tract neoplasm skos:exactMatch HP:0100574 Biliary tract neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0003894 acne skos:exactMatch HP:0001061 Acne semapv:ManualMappingCuration 2022-01-24 EFO:0003895 epistaxis skos:exactMatch HP:0000421 Epistaxis semapv:ManualMappingCuration 2023-12-04 EFO:0003896 left ventricular hypertrophy skos:exactMatch HP:0001712 Left ventricular hypertrophy semapv:ManualMappingCuration 2023-12-04 EFO:0003898 ankylosing spondylitis skos:exactMatch HP:0033631 Spondylitis semapv:ManualMappingCuration 2023-12-04 EFO:0003907 deep vein thrombosis skos:exactMatch HP:0002625 Deep venous thrombosis semapv:ManualMappingCuration 2023-12-04 EFO:0003911 atrial flutter skos:exactMatch HP:0004749 Atrial flutter semapv:ManualMappingCuration 2022-01-24 EFO:0003913 angina pectoris skos:exactMatch HP:0001681 Angina pectoris semapv:ManualMappingCuration 2023-12-04 EFO:0003914 atherosclerosis skos:exactMatch HP:0002621 Atherosclerosis semapv:ManualMappingCuration 2023-12-04 EFO:0003917 premature birth skos:exactMatch HP:0001622 Premature birth semapv:ManualMappingCuration 2023-12-04 EFO:0003918 obstructive sleep apnea skos:exactMatch HP:0002870 Obstructive sleep apnea semapv:ManualMappingCuration 2022-01-24 EFO:0003928 necrotizing enterocolitis skos:exactMatch HP:0033165 Necrotizing enterocolitis semapv:ManualMappingCuration 2023-12-04 EFO:0003931 bone fracture skos:exactMatch HP:0020110 Bone fracture semapv:ManualMappingCuration 2023-12-04 EFO:0003938 aphthous ulcer skos:exactMatch HP:0032154 Aphthous ulcer semapv:ManualMappingCuration 2022-01-24 EFO:0003948 gastroesophageal reflux disease skos:exactMatch HP:0002020 Gastroesophageal reflux semapv:ManualMappingCuration 2023-03-06 EFO:0003956 seasonal allergic rhinitis skos:exactMatch HP:0003193 Allergic rhinitis semapv:ManualMappingCuration 2023-12-04 EFO:0003956 seasonal allergic rhinitis skos:exactMatch HP:0012395 Seasonal allergy semapv:ManualMappingCuration 2023-12-04 EFO:0003959 cleft lip skos:exactMatch HP:0410030 Cleft lip semapv:ManualMappingCuration 2023-12-04 EFO:0003963 freckles skos:exactMatch HP:0001480 Freckling semapv:ManualMappingCuration 2023-12-04 EFO:0003964 hip fracture skos:exactMatch HP:0041145 Fractured acetabular part of hip bone semapv:ManualMappingCuration 2023-12-04 EFO:0003966 eye disease skos:exactMatch HP:0000478 Abnormality of the eye semapv:ManualMappingCuration 2023-12-04 EFO:0003968 angiosarcoma skos:exactMatch HP:0200058 Angiosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0004143 carpal tunnel syndrome skos:exactMatch HP:0012185 Constrictive median neuropathy semapv:ManualMappingCuration 2023-12-04 EFO:0004145 myopathy skos:exactMatch HP:0003198 Myopathy semapv:ManualMappingCuration 2023-12-04 EFO:0004149 neuropathy skos:exactMatch HP:0009830 Peripheral neuropathy semapv:ManualMappingCuration 2023-12-04 EFO:0004152 chorea skos:exactMatch HP:0002072 Chorea semapv:ManualMappingCuration 2022-01-24 EFO:0004190 open-angle glaucoma skos:exactMatch HP:0012108 Open angle glaucoma semapv:ManualMappingCuration 2023-12-04 EFO:0004191 androgenetic alopecia skos:exactMatch HP:0002292 Frontal balding semapv:ManualMappingCuration 2023-12-04 EFO:0004192 alopecia areata skos:exactMatch HP:0002232 Patchy alopecia semapv:ManualMappingCuration 2023-12-04 EFO:0004193 basal cell carcinoma skos:exactMatch HP:0002671 Basal cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0004194 IGA glomerulonephritis skos:exactMatch HP:0000794 IgA deposition in the glomerulus semapv:ManualMappingCuration 2023-12-04 EFO:0004198 skin neoplasm skos:exactMatch HP:0008069 Neoplasm of the skin semapv:ManualMappingCuration 2023-12-04 EFO:0004208 Vitiligo skos:exactMatch HP:0001045 Vitiligo semapv:ManualMappingCuration 2023-12-04 EFO:0004209 hypospadias skos:exactMatch HP:0000047 Hypospadias semapv:ManualMappingCuration 2022-01-24 EFO:0004210 gallstones skos:exactMatch HP:0001081 Cholelithiasis semapv:ManualMappingCuration 2023-12-04 EFO:0004211 Hypertriglyceridemia skos:exactMatch HP:0002155 Hypertriglyceridemia semapv:ManualMappingCuration 2022-01-24 EFO:0004212 Keloid skos:exactMatch HP:0010562 Keloids semapv:ManualMappingCuration 2023-12-04 EFO:0004213 otosclerosis skos:exactMatch HP:0000362 Otosclerosis semapv:ManualMappingCuration 2022-01-24 EFO:0004214 Abdominal Aortic Aneurysm skos:exactMatch HP:0005112 Abdominal aortic aneurysm semapv:ManualMappingCuration 2023-12-04 EFO:0004224 Coronary Restenosis skos:exactMatch HP:0004761 Post-angioplasty coronary artery restenosis semapv:ManualMappingCuration 2023-12-04 EFO:0004225 Coronary Vasospasm skos:exactMatch HP:0025497 Coronary artery spasm semapv:ManualMappingCuration 2023-12-04 EFO:0004229 Dupuytren Contracture skos:exactMatch HP:0005679 Dupuytren contracture semapv:ManualMappingCuration 2023-12-04 EFO:0004230 endometrial neoplasm skos:exactMatch HP:0010784 Uterine neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:0004232 eosinophilic esophagitis skos:exactMatch HP:0410151 Eosinophilic infiltration of the esophagus semapv:ManualMappingCuration 2023-12-04 EFO:0004233 leukopenia skos:exactMatch HP:0001882 Leukopenia semapv:ManualMappingCuration 2023-12-04 EFO:0004234 erectile dysfunction skos:exactMatch HP:0000802 Impotence semapv:ManualMappingCuration 2022-01-24 EFO:0004236 focal segmental glomerulosclerosis skos:exactMatch HP:0000096 Glomerular sclerosis semapv:ManualMappingCuration 2023-12-04 EFO:0004237 Graves disease skos:exactMatch HP:0100647 Graves disease semapv:ManualMappingCuration 2023-12-04 EFO:0004238 hearing loss skos:exactMatch HP:0000365 Hearing impairment semapv:ManualMappingCuration 2023-12-04 EFO:0004240 heroin dependence skos:exactMatch HP:0033517 Addictive heroin use semapv:ManualMappingCuration 2023-12-04 EFO:0004242 obsessive-compulsive disorder skos:exactMatch HP:0000722 Compulsive behaviors semapv:ManualMappingCuration 2023-12-04 EFO:0004243 carcinoid tumor skos:exactMatch HP:0100570 Carcinoid tumor semapv:ManualMappingCuration 2022-01-24 EFO:0004244 interstitial lung disease skos:exactMatch HP:0006515 Interstitial pneumonitis semapv:ManualMappingCuration 2023-12-04 EFO:0004244 interstitial lung disease skos:exactMatch HP:0006530 Abnormal pulmonary interstitial morphology semapv:ManualMappingCuration 2023-12-04 EFO:0004249 meningococcal infection skos:exactMatch HP:0005381 Recurrent meningococcal disease semapv:ManualMappingCuration 2023-12-04 EFO:0004251 myeloproliferative disorder skos:exactMatch HP:0005547 Myeloproliferative disorder semapv:ManualMappingCuration 2023-12-04 EFO:0004252 nasopharyngeal neoplasm skos:exactMatch HP:0100630 Neoplasia of the nasopharynx semapv:ManualMappingCuration 2023-12-04 EFO:0004253 nephrolithiasis skos:exactMatch HP:0000787 Nephrolithiasis semapv:ManualMappingCuration 2023-12-04 EFO:0004254 membranous glomerulonephritis skos:exactMatch HP:0012578 Membranous nephropathy semapv:ManualMappingCuration 2023-12-04 EFO:0004255 nephrotic syndrome skos:exactMatch HP:0000100 Nephrotic syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0004261 osteitis deformans skos:exactMatch HP:0034159 Paget disease of bone semapv:ManualMappingCuration 2023-12-04 EFO:0004262 panic disorder skos:exactMatch HP:0025269 Panic attack semapv:ManualMappingCuration 2023-12-04 EFO:0004265 peripheral arterial disease skos:exactMatch HP:0004950 Peripheral arterial stenosis semapv:ManualMappingCuration 2023-12-04 EFO:0004266 primary ovarian insufficiency skos:exactMatch HP:0008209 Premature ovarian insufficiency semapv:ManualMappingCuration 2023-12-04 EFO:0004267 biliary liver cirrhosis skos:exactMatch HP:0002613 Biliary cirrhosis semapv:ManualMappingCuration 2023-12-04 EFO:0004268 sclerosing cholangitis skos:exactMatch HP:0030991 Sclerosing cholangitis semapv:ManualMappingCuration 2022-01-24 EFO:0004269 cardiac arrhythmia skos:exactMatch HP:0011675 Arrhythmia semapv:ManualMappingCuration 2023-12-04 EFO:0004270 restless legs syndrome skos:exactMatch HP:0012452 Restless legs semapv:ManualMappingCuration 2023-12-04 EFO:0004272 anemia (phenotype) skos:exactMatch HP:0001903 Anemia semapv:ManualMappingCuration 2022-01-24 EFO:0004273 scoliosis skos:exactMatch HP:0002650 Scoliosis semapv:ManualMappingCuration 2022-01-24 EFO:0004274 gout skos:exactMatch HP:0001997 Gout semapv:ManualMappingCuration 2023-12-04 EFO:0004278 sudden cardiac arrest skos:exactMatch HP:0001645 Sudden cardiac death semapv:ManualMappingCuration 2023-12-04 EFO:0004280 movement disorder skos:exactMatch HP:0100022 Abnormality of movement semapv:ManualMappingCuration 2023-12-04 EFO:0004282 thoracic aortic aneurysm skos:exactMatch HP:0012727 Thoracic aortic aneurysm semapv:ManualMappingCuration 2023-12-04 EFO:0004283 goiter skos:exactMatch HP:0000853 Goiter semapv:ManualMappingCuration 2022-01-24 EFO:0004285 albuminuria skos:exactMatch HP:0012592 Albuminuria semapv:ManualMappingCuration 2022-01-24 EFO:0004286 venous thromboembolism skos:exactMatch HP:0004936 Venous thrombosis semapv:ManualMappingCuration 2023-12-04 EFO:0004287 ventricular fibrillation skos:exactMatch HP:0001663 Ventricular fibrillation semapv:ManualMappingCuration 2022-01-24 EFO:0004288 colonic neoplasm skos:exactMatch HP:0100273 Neoplasm of the colon semapv:ManualMappingCuration 2023-12-04 EFO:0004289 lymphoid leukemia skos:exactMatch HP:0005526 Lymphoid leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0004320 suicidal ideation skos:exactMatch HP:0031589 Suicidal ideation semapv:ManualMappingCuration 2023-12-04 EFO:0004537 neonatal systemic lupus erythematosus skos:exactMatch HP:0002725 Systemic lupus erythematosus semapv:ManualMappingCuration 2023-12-04 EFO:0004540 chronic fatigue syndrome skos:exactMatch HP:0012432 Chronic fatigue semapv:ManualMappingCuration 2023-12-04 EFO:0004562 cryptorchidism skos:exactMatch HP:0000028 Cryptorchidism semapv:ManualMappingCuration 2022-01-24 EFO:0004566 body weight gain skos:exactMatch HP:0004324 Increased body weight semapv:ManualMappingCuration 2023-12-04 EFO:0004593 gestational diabetes skos:exactMatch HP:0009800 Maternal diabetes semapv:ManualMappingCuration 2023-12-04 EFO:0004606 gallbladder neoplasm skos:exactMatch HP:0100575 Neoplasm of the gallbladder semapv:ManualMappingCuration 2023-12-04 EFO:0004607 duodenal ulcer skos:exactMatch HP:0002588 Duodenal ulcer semapv:ManualMappingCuration 2022-01-24 EFO:0004608 cystic fibrosis associated meconium ileus skos:exactMatch HP:0004401 Meconium ileus semapv:ManualMappingCuration 2023-12-04 EFO:0004609 treatment refractory schizophrenia skos:exactMatch HP:0100753 Schizophrenia semapv:ManualMappingCuration 2023-12-04 EFO:0004616 osteoarthritis, knee skos:exactMatch HP:0005086 Knee osteoarthritis semapv:ManualMappingCuration 2023-12-04 EFO:0004686 non-compaction cardiomyopathy skos:exactMatch HP:0012817 Noncompaction cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:0004698 insomnia skos:exactMatch HP:0100785 Insomnia semapv:ManualMappingCuration 2022-01-24 EFO:0004701 methamphetamine dependence skos:exactMatch HP:0033519 Addictive methamphetamine use semapv:ManualMappingCuration 2023-12-04 EFO:0004705 hypothyroidism skos:exactMatch HP:0000821 Hypothyroidism semapv:ManualMappingCuration 2023-12-04 EFO:0004707 infantile hypertrophic pyloric stenosis skos:exactMatch HP:0002021 Pyloric stenosis semapv:ManualMappingCuration 2023-12-04 EFO:0004710 pelvic organ prolapse skos:exactMatch HP:0031607 Pelvic organ prolapse semapv:ManualMappingCuration 2023-12-04 EFO:0004714 sexual dysfunction skos:exactMatch HP:0030014 Female sexual dysfunction semapv:ManualMappingCuration 2023-12-04 EFO:0004714 sexual dysfunction skos:exactMatch HP:0040307 Male sexual dysfunction semapv:ManualMappingCuration 2023-12-04 EFO:0004723 coronary artery calcification skos:exactMatch HP:0001717 Coronary artery calcification semapv:ManualMappingCuration 2023-12-04 EFO:0004799 cholelithiasis skos:exactMatch HP:0001081 Cholelithiasis semapv:ManualMappingCuration 2023-12-04 EFO:0004807 short sleep skos:exactMatch HP:0033063 Shortened sleep phase semapv:ManualMappingCuration 2023-12-04 EFO:0004992 Otitis media skos:exactMatch HP:0000388 Otitis media semapv:ManualMappingCuration 2022-01-24 EFO:0004994 lumbar disc degeneration skos:exactMatch HP:0008419 Intervertebral disk degeneration semapv:ManualMappingCuration 2023-12-04 EFO:0005039 hippocampal atrophy skos:exactMatch HP:0410170 Hippocampal atrophy semapv:ManualMappingCuration 2023-12-04 EFO:0005088 testicular carcinoma skos:exactMatch HP:0010788 Testicular neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:0005129 hepatitis C induced liver cirrhosis skos:exactMatch HP:0001394 Cirrhosis semapv:ManualMappingCuration 2023-12-04 EFO:0005140 autoimmune disease skos:exactMatch HP:0002960 Autoimmunity semapv:ManualMappingCuration 2023-12-04 EFO:0005203 eating disorder skos:exactMatch HP:0100738 Abnormal eating behavior semapv:ManualMappingCuration 2023-12-04 EFO:0005204 bulimia nervosa skos:exactMatch HP:0100739 Bulimia semapv:ManualMappingCuration 2023-12-04 EFO:0005220 pulmonary neuroendocrine tumor skos:exactMatch HP:0030445 Pulmonary carcinoid tumor semapv:ManualMappingCuration 2023-12-04 EFO:0005221 cholangiocarcinoma skos:exactMatch HP:0030153 Cholangiocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0005230 anxiety skos:exactMatch HP:0000739 Anxiety semapv:ManualMappingCuration 2023-12-04 EFO:0005239 aortic valve calcification skos:exactMatch HP:0004380 Aortic valve calcification semapv:ManualMappingCuration 2022-01-24 EFO:0005240 rhegmatogenous retinal detachment skos:exactMatch HP:0012230 Rhegmatogenous retinal detachment semapv:ManualMappingCuration 2023-12-04 EFO:0005245 body weight loss skos:exactMatch HP:0001824 Weight loss semapv:ManualMappingCuration 2023-12-04 EFO:0005246 hypersomnia skos:exactMatch HP:0100786 Hypersomnia semapv:ManualMappingCuration 2022-01-24 EFO:0005251 hypotension skos:exactMatch HP:0002615 Hypotension semapv:ManualMappingCuration 2022-01-24 EFO:0005252 orthostatic hypotension skos:exactMatch HP:0001278 Orthostatic hypotension semapv:ManualMappingCuration 2022-01-24 EFO:0005269 congenital heart malformation skos:exactMatch HP:0001627 Abnormal heart morphology semapv:ManualMappingCuration 2023-12-04 EFO:0005279 temporomandibular joint disorder skos:exactMatch HP:0010754 Abnormality of the temporomandibular joint semapv:ManualMappingCuration 2023-12-04 EFO:0005307 torsades de pointes skos:exactMatch HP:0001664 Torsade de pointes semapv:ManualMappingCuration 2022-01-24 EFO:0005319 contact dermatitis skos:exactMatch HP:0032282 Contact dermatitis semapv:ManualMappingCuration 2023-12-04 EFO:0005321 molar-incisor hypomineralization skos:exactMatch HP:0006285 Enamel hypomineralization semapv:ManualMappingCuration 2023-12-04 EFO:0005322 callous-unemotional behaviour skos:exactMatch HP:0030213 Emotional dearth semapv:ManualMappingCuration 2023-12-04 EFO:0005403 response to dietary potassium supplementation skos:exactMatch HP:0031167 Triggered by ingestion of potassium-rich food semapv:ManualMappingCuration 2023-12-04 EFO:0005407 psychosis skos:exactMatch HP:0000709 Psychosis semapv:ManualMappingCuration 2022-01-24 EFO:0005410 tooth agenesis skos:exactMatch HP:0000668 Hypodontia semapv:ManualMappingCuration 2023-12-04 EFO:0005414 airway hyperresponsiveness skos:exactMatch HP:0032933 Airway hyperresponsiveness semapv:ManualMappingCuration 2023-12-04 EFO:0005424 dyslexia skos:exactMatch HP:0010522 Dyslexia semapv:ManualMappingCuration 2022-01-24 EFO:0005425 language impairment skos:exactMatch HP:0002463 Language impairment semapv:ManualMappingCuration 2023-12-04 EFO:0005427 social communication impairment skos:exactMatch HP:0012760 Reduced social responsiveness semapv:ManualMappingCuration 2023-12-04 EFO:0005531 urticaria skos:exactMatch HP:0001025 Urticaria semapv:ManualMappingCuration 2022-01-24 EFO:0005532 angioedema skos:exactMatch HP:0100665 Angioedema semapv:ManualMappingCuration 2022-01-24 EFO:0005543 glioma skos:exactMatch HP:0009733 Glioma semapv:ManualMappingCuration 2023-12-04 EFO:0005569 microphthalmia skos:exactMatch HP:0000568 Microphthalmia semapv:ManualMappingCuration 2022-01-24 EFO:0005570 oral cavity cancer skos:exactMatch HP:0100649 Neoplasm of the oral cavity semapv:ManualMappingCuration 2023-12-04 EFO:0005583 rickets skos:exactMatch HP:0002748 Rickets semapv:ManualMappingCuration 2022-01-24 EFO:0005611 opioid dependence skos:exactMatch HP:0033515 Addictive opioid use semapv:ManualMappingCuration 2023-12-04 EFO:0005626 pancolitis skos:exactMatch HP:0033256 Pancolitis semapv:ManualMappingCuration 2023-12-04 EFO:0005649 spondylolysis skos:exactMatch HP:0003304 Spondylolysis semapv:ManualMappingCuration 2022-01-24 EFO:0005669 intracerebral hemorrhage skos:exactMatch HP:0001342 Cerebral hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0005672 acute coronary syndrome skos:exactMatch HP:0033678 Acute coronary syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0005678 hippocampal sclerosis of aging skos:exactMatch HP:0033715 Hippocampal sclerosis semapv:ManualMappingCuration 2023-12-04 EFO:0005761 lupus nephritis skos:exactMatch HP:0033726 Lupus nephritis semapv:ManualMappingCuration 2023-12-04 EFO:0005762 neuropathic pain skos:exactMatch HP:0033345 Neuralgia semapv:ManualMappingCuration 2023-12-04 EFO:0005773 retinal detachment skos:exactMatch HP:0000541 Retinal detachment semapv:ManualMappingCuration 2023-12-04 EFO:0005803 hematologic disease skos:exactMatch HP:0001871 Abnormality of blood and blood-forming tissues semapv:ManualMappingCuration 2023-12-04 EFO:0005804 polycythemia skos:exactMatch HP:0001901 Polycythemia semapv:ManualMappingCuration 2022-01-24 EFO:0005844 response to dietary antigen skos:exactMatch HP:0500093 Food allergy semapv:ManualMappingCuration 2023-12-04 EFO:0005846 cryoglobulinemia skos:exactMatch HP:0100778 Cryoglobulinemia semapv:ManualMappingCuration 2023-12-04 EFO:0005854 allergic rhinitis skos:exactMatch HP:0003193 Allergic rhinitis semapv:ManualMappingCuration 2022-01-24 EFO:0005917 generalised epilepsy skos:exactMatch HP:0002197 Generalized-onset seizure semapv:ManualMappingCuration 2023-12-04 EFO:0005924 binge eating skos:exactMatch HP:0100739 Bulimia semapv:ManualMappingCuration 2023-12-04 EFO:0005936 underweight body mass index status skos:exactMatch HP:0045082 Decreased body mass index semapv:ManualMappingCuration 2023-12-04 EFO:0005938 congenital left-sided heart lesions skos:exactMatch HP:0045017 Congenital malformation of the left heart semapv:ManualMappingCuration 2023-12-04 EFO:0005940 psychotic symptoms skos:exactMatch HP:0000725 Psychotic episodes semapv:ManualMappingCuration 2023-12-04 EFO:0005952 non-Hodgkins lymphoma skos:exactMatch HP:0012539 Non-Hodgkin lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:0006342 aggressive periodontitis skos:exactMatch HP:0000166 Severe periodontitis semapv:ManualMappingCuration 2023-12-04 EFO:0006347 pulmonary artery enlargement skos:exactMatch HP:0004927 Pulmonary artery dilatation semapv:ManualMappingCuration 2023-12-04 EFO:0006352 laryngeal squamous cell carcinoma skos:exactMatch HP:0012182 Oropharyngeal squamous cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0006462 ovarian mucinous adenocarcinoma skos:exactMatch HP:0031494 Ovarian mucinous tumor semapv:ManualMappingCuration 2023-12-04 EFO:0006505 chronic bronchitis skos:exactMatch HP:0004469 Chronic bronchitis semapv:ManualMappingCuration 2023-12-04 EFO:0006788 anxiety disorder skos:exactMatch HP:0000739 Anxiety semapv:ManualMappingCuration 2023-12-04 EFO:0006790 cerebral amyloid angiopathy skos:exactMatch HP:0011970 Cerebral amyloid angiopathy semapv:ManualMappingCuration 2023-12-04 EFO:0006792 Lewy body dementia skos:exactMatch HP:0100315 Lewy bodies semapv:ManualMappingCuration 2023-12-04 EFO:0006801 Alzheimer's disease neuropathologic change skos:exactMatch HP:0002511 Alzheimer disease semapv:ManualMappingCuration 2023-12-04 EFO:0006803 vasculitis skos:exactMatch HP:0002633 Vasculitis semapv:ManualMappingCuration 2023-12-04 EFO:0006812 autoimmune thyroid disease skos:exactMatch HP:0100647 Graves disease semapv:ManualMappingCuration 2023-12-04 EFO:0006835 pyoderma gangrenosum skos:exactMatch HP:0025452 Pyoderma gangrenosum semapv:ManualMappingCuration 2023-12-04 EFO:0006836 rapid kidney function decline skos:exactMatch HP:0001919 Acute kidney injury semapv:ManualMappingCuration 2023-12-04 EFO:0006859 head and neck malignant neoplasia skos:exactMatch HP:0012288 Neoplasm of head and neck semapv:ManualMappingCuration 2023-12-04 EFO:0007049 gliadin seropositivity skos:exactMatch HP:4000029 Antigliadin antibody positivity semapv:ManualMappingCuration 2023-12-04 EFO:0007124 salivary gland lesion skos:exactMatch HP:0010286 Abnormal salivary gland morphology semapv:ManualMappingCuration 2023-12-04 EFO:0007125 lachrymal gland lesion skos:exactMatch HP:0011482 Abnormal lacrimal gland morphology semapv:ManualMappingCuration 2023-12-04 EFO:0007141 allergic conjunctivitis skos:exactMatch HP:0007879 Allergic conjunctivitis semapv:ManualMappingCuration 2022-01-24 EFO:0007143 alveolar soft part sarcoma skos:exactMatch HP:0012218 Alveolar soft part sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0007167 Bell's palsy skos:exactMatch HP:0010628 Facial palsy semapv:ManualMappingCuration 2023-12-04 EFO:0007169 biliary dyskinesia skos:exactMatch HP:0012396 Biliary dyskinesia semapv:ManualMappingCuration 2022-01-24 EFO:0007176 bone giant cell tumor skos:exactMatch HP:0011847 Giant cell tumor of bone semapv:ManualMappingCuration 2022-01-24 EFO:0007183 bronchiolitis obliterans skos:exactMatch HP:0011946 Bronchiolitis obliterans semapv:ManualMappingCuration 2022-01-24 EFO:0007217 congenital nystagmus skos:exactMatch HP:0000639 Nystagmus semapv:ManualMappingCuration 2022-01-24 EFO:0007298 hemopericardium skos:exactMatch HP:0011851 Hemopericardium semapv:ManualMappingCuration 2022-01-24 EFO:0007318 hyperinsulinemic hypoglycemia skos:exactMatch HP:0000825 Hyperinsulinemic hypoglycemia semapv:ManualMappingCuration 2022-01-24 EFO:0007319 hyperprolactinemia skos:exactMatch HP:0000870 Increased circulating prolactin concentration semapv:ManualMappingCuration 2022-01-24 EFO:0007386 Mycobacterium avium complex disease skos:exactMatch HP:0011275 Recurrent mycobacterium avium complex infections semapv:ManualMappingCuration 2023-12-04 EFO:0007401 oligohydramnios skos:exactMatch HP:0001562 Oligohydramnios semapv:ManualMappingCuration 2022-01-24 EFO:0007421 paronychia skos:exactMatch HP:0001818 Paronychia semapv:ManualMappingCuration 2022-01-24 EFO:0007427 pericarditis skos:exactMatch HP:0001701 Pericarditis semapv:ManualMappingCuration 2022-01-24 EFO:0007461 recurrent pneumonia skos:exactMatch HP:0006532 Recurrent pneumonia semapv:ManualMappingCuration 2022-01-24 EFO:0007462 REM sleep behavior disorder skos:exactMatch HP:0002494 Abnormal rapid eye movement sleep semapv:ManualMappingCuration 2023-12-04 EFO:0007490 spinal stenosis skos:exactMatch HP:0003416 Spinal canal stenosis semapv:ManualMappingCuration 2022-01-24 EFO:0007493 spondylolisthesis skos:exactMatch HP:0003302 Spondylolisthesis semapv:ManualMappingCuration 2022-01-24 EFO:0007525 tricuspid valve stenosis skos:exactMatch HP:0010446 Tricuspid stenosis semapv:ManualMappingCuration 2022-01-24 EFO:0007527 tropical spastic paraparesis skos:exactMatch HP:0002313 Spastic paraparesis semapv:ManualMappingCuration 2023-12-04 EFO:0007536 vesicoureteral reflux skos:exactMatch HP:0000076 Vesicoureteral reflux semapv:ManualMappingCuration 2022-01-24 EFO:0007549 Zollinger-Ellison Syndrome skos:exactMatch HP:0002044 Zollinger-Ellison syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007623 suicide behaviour skos:exactMatch HP:0000716 Depression semapv:ManualMappingCuration 2023-12-04 EFO:0007624 suicide skos:exactMatch HP:0000716 Depression semapv:ManualMappingCuration 2023-12-04 EFO:0007706 manic or hypomanic episode skos:exactMatch HP:0100754 Mania semapv:ManualMappingCuration 2023-12-04 EFO:0007755 atopic march skos:exactMatch HP:0012393 Allergy semapv:ManualMappingCuration 2023-12-04 EFO:0007887 autosomal dominant compelling helio-ophthalmic outburst syndrome skos:exactMatch HP:0025095 Sneeze semapv:ManualMappingCuration 2023-12-04 EFO:0007940 chronic venous insufficiency skos:exactMatch HP:0005293 Venous insufficiency semapv:ManualMappingCuration 2023-12-04 EFO:0007949 acute-on-chronic liver failure skos:exactMatch HP:0100626 Chronic hepatic failure semapv:ManualMappingCuration 2023-12-04 EFO:0008008 lower urinary tract symptom skos:exactMatch HP:0000009 Functional abnormality of the bladder semapv:ManualMappingCuration 2023-12-04 EFO:0008462 pregnancy induced alloimmunization skos:exactMatch HP:0002686 Pregnancy history semapv:ManualMappingCuration 2023-12-04 EFO:0008505 hepatitis virus-related hepatocellular carcinoma skos:exactMatch HP:0001402 Hepatocellular carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0008511 metopic craniosynostosis skos:exactMatch HP:0011330 Metopic synostosis semapv:ManualMappingCuration 2023-12-04 EFO:0008519 primary hyperparathyroidism skos:exactMatch HP:0008200 Primary hyperparathyroidism semapv:ManualMappingCuration 2022-01-24 EFO:0008536 anti-centromere-antibody-positive systemic scleroderma skos:exactMatch HP:0100324 Scleroderma semapv:ManualMappingCuration 2023-12-04 EFO:0008537 anti-topoisomerase-I-antibody-positive systemic scleroderma skos:exactMatch HP:0100324 Scleroderma semapv:ManualMappingCuration 2023-12-04 EFO:0008560 female infertility skos:exactMatch HP:0008222 Female infertility semapv:ManualMappingCuration 2022-01-24 EFO:0008561 diaphragmatic hernia skos:exactMatch HP:0000776 Congenital diaphragmatic hernia semapv:ManualMappingCuration 2023-12-04 EFO:0008572 malnutrition skos:exactMatch HP:0004395 Malnutrition semapv:ManualMappingCuration 2022-01-24 EFO:0008573 alcoholic liver disease skos:exactMatch HP:0001394 Cirrhosis semapv:ManualMappingCuration 2023-12-04 EFO:0008574 gangrene skos:exactMatch HP:0100758 Gangrene semapv:ManualMappingCuration 2022-01-24 EFO:0008583 acute myocardial infarction skos:exactMatch HP:0001658 Myocardial infarction semapv:ManualMappingCuration 2023-12-04 EFO:0008588 peritonitis skos:exactMatch HP:0002586 Peritonitis semapv:ManualMappingCuration 2022-01-24 EFO:0008590 Status Asthmaticus skos:exactMatch HP:0012653 Status asthmaticus semapv:ManualMappingCuration 2022-01-24 EFO:0008615 Cystic Kidney Disease skos:exactMatch HP:0000107 Renal cyst semapv:ManualMappingCuration 2023-12-04 EFO:0008626 vitreous hemorrhage skos:exactMatch HP:0007902 Vitreous hemorrhage semapv:ManualMappingCuration 2022-01-24 EFO:0008627 eye hemorrhage skos:exactMatch HP:0011885 Hemorrhage of the eye semapv:ManualMappingCuration 2022-01-24 EFO:0008997 synovitis skos:exactMatch HP:0100769 Synovitis semapv:ManualMappingCuration 2022-01-24 EFO:0009001 Mastocytosis skos:exactMatch HP:0100495 Mastocytosis semapv:ManualMappingCuration 2023-12-04 EFO:0009011 Arteritis skos:exactMatch HP:0012089 Arteritis semapv:ManualMappingCuration 2022-01-24 EFO:0009029 Central precocious puberty skos:exactMatch HP:0000826 Precocious puberty semapv:ManualMappingCuration 2023-12-04 EFO:0009048 Intrahepatic cholestasis of pregnancy skos:exactMatch HP:0002686 Pregnancy history semapv:ManualMappingCuration 2023-12-04 EFO:0009073 methylmalonic aciduria (cobalamin deficiency) cblA type skos:exactMatch HP:0012120 Methylmalonic aciduria semapv:ManualMappingCuration 2023-12-04 EFO:0009087 non-typhoidal Salmonella bacteremia skos:exactMatch HP:0031864 Bacteremia semapv:ManualMappingCuration 2023-12-04 EFO:0009093 choroidal melanoma skos:exactMatch HP:0012054 Choroidal melanoma semapv:ManualMappingCuration 2023-12-04 EFO:0009094 idiopathic dilated cardiomyopathy skos:exactMatch HP:0001644 Dilated cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:0009104 hyperuricemia skos:exactMatch HP:0002149 Hyperuricemia semapv:ManualMappingCuration 2022-01-24 EFO:0009130 clostridium difficile infection skos:exactMatch HP:0032166 Unusual gastrointestinal infection semapv:ManualMappingCuration 2023-12-04 EFO:0009189 hyperthyroidism skos:exactMatch HP:0000836 Hyperthyroidism semapv:ManualMappingCuration 2023-03-06 EFO:0009260 non-melanoma skin carcinoma skos:exactMatch HP:0008069 Neoplasm of the skin semapv:ManualMappingCuration 2023-12-04 EFO:0009266 refractory celiac disease skos:exactMatch HP:0002608 Celiac disease semapv:ManualMappingCuration 2023-12-04 EFO:0009267 delirium skos:exactMatch HP:0031258 Delirium semapv:ManualMappingCuration 2023-12-04 EFO:0009276 ventricular ectopy skos:exactMatch HP:0034041 obsolete Ventricular ectopy semapv:ManualMappingCuration 2023-12-04 EFO:0009277 supraventricular ectopy skos:exactMatch HP:0006699 Premature atrial contractions semapv:ManualMappingCuration 2023-12-04 EFO:0009316 protein c deficiency skos:exactMatch HP:0005543 Reduced protein C activity semapv:ManualMappingCuration 2022-01-24 EFO:0009321 diabetic macular edema skos:exactMatch HP:0040049 Macular edema semapv:ManualMappingCuration 2023-12-04 EFO:0009322 proliferative diabetic retinopathy skos:exactMatch HP:0000488 Retinopathy semapv:ManualMappingCuration 2023-12-04 EFO:0009336 velopharyngeal dysfunction skos:exactMatch HP:0000220 Velopharyngeal insufficiency semapv:ManualMappingCuration 2023-12-04 EFO:0009361 colorectal mucinous adenocarcinoma skos:exactMatch HP:0031497 Mucinous colorectal carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0009363 chronic central serous retinopathy skos:exactMatch HP:0000488 Retinopathy semapv:ManualMappingCuration 2023-12-04 EFO:0009373 edema skos:exactMatch HP:0000969 Edema semapv:ManualMappingCuration 2022-01-24 EFO:0009382 metabolically healthy obesity skos:exactMatch HP:0001513 Obesity semapv:ManualMappingCuration 2023-12-04 EFO:0009408 abnormal vaginal discharge smell skos:exactMatch HP:0034269 Abnormal vaginal discharge semapv:ManualMappingCuration 2023-12-04 EFO:0009409 abnormal vaginal discharge itching skos:exactMatch HP:0034269 Abnormal vaginal discharge semapv:ManualMappingCuration 2023-12-04 EFO:0009441 Waldenstrom macroglobulinemia skos:exactMatch HP:0005508 Monoclonal immunoglobulin M proteinemia semapv:ManualMappingCuration 2023-12-04 EFO:0009443 BRCAX breast cancer skos:exactMatch HP:0003002 Breast carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0009447 hypoxemia skos:exactMatch HP:0012418 Hypoxemia semapv:ManualMappingCuration 2022-01-24 EFO:0009448 pulmonary fibrosis skos:exactMatch HP:0002206 Pulmonary fibrosis semapv:ManualMappingCuration 2023-12-04 EFO:0009450 conjunctivitis skos:exactMatch HP:0000509 Conjunctivitis semapv:ManualMappingCuration 2022-01-24 EFO:0009453 hemiplegia skos:exactMatch HP:0002301 Hemiplegia semapv:ManualMappingCuration 2023-03-06 EFO:0009454 gastric ulcer skos:exactMatch HP:0002592 Gastric ulcer semapv:ManualMappingCuration 2022-01-24 EFO:0009459 ACPA-positive rheumatoid arthritis skos:exactMatch HP:0001370 Rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:0009460 ACPA-negative rheumatoid arthritis skos:exactMatch HP:0001370 Rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:0009471 small kidney skos:exactMatch HP:0000089 Renal hypoplasia semapv:ManualMappingCuration 2023-12-04 EFO:0009473 hemolysis skos:exactMatch HP:0001878 Hemolytic anemia semapv:ManualMappingCuration 2023-12-04 EFO:0009475 cervical polyp skos:exactMatch HP:0030159 Cervical polyp semapv:ManualMappingCuration 2024-04-21 EFO:0009478 vocal cord polyp skos:exactMatch HP:0032041 Vocal cord polyp semapv:ManualMappingCuration 2023-12-04 EFO:0009482 drug allergy skos:exactMatch HP:0410323 Drug allergy semapv:ManualMappingCuration 2023-12-04 EFO:0009492 cardiac arrest skos:exactMatch HP:0001695 Cardiac arrest semapv:ManualMappingCuration 2023-03-06 EFO:0009493 paroxysmal tachycardia skos:exactMatch HP:0006688 Paroxysmal tachycardia semapv:ManualMappingCuration 2022-01-24 EFO:0009521 dislocation skos:exactMatch HP:0001373 Joint dislocation semapv:ManualMappingCuration 2023-12-04 EFO:0009523 fecal incontinence skos:exactMatch HP:0002607 Bowel incontinence semapv:ManualMappingCuration 2023-12-04 EFO:0009536 blepharitis skos:exactMatch HP:0000498 Blepharitis semapv:ManualMappingCuration 2023-03-06 EFO:0009545 esophageal varices skos:exactMatch HP:0002040 Esophageal varix semapv:ManualMappingCuration 2023-12-04 EFO:0009552 hemorrhoid skos:exactMatch HP:0032551 Hemorrhoids semapv:ManualMappingCuration 2023-12-04 EFO:0009562 polyneuropathy skos:exactMatch HP:0001271 Polyneuropathy semapv:ManualMappingCuration 2023-12-04 EFO:0009609 myocarditis skos:exactMatch HP:0012819 Myocarditis semapv:ManualMappingCuration 2023-12-04 EFO:0009613 fibula fracture skos:exactMatch HP:0041222 Fractured fibula semapv:ManualMappingCuration 2023-12-04 EFO:0009626 pyloric stenosis skos:exactMatch HP:0002021 Pyloric stenosis semapv:ManualMappingCuration 2022-01-24 EFO:0009636 cesarean section skos:exactMatch HP:0011410 Caesarian section semapv:ManualMappingCuration 2023-12-04 EFO:0009640 family history of cancer skos:exactMatch HP:0032317 Family history of cancer semapv:ManualMappingCuration 2023-12-04 EFO:0009661 bronchitis skos:exactMatch HP:0012387 Bronchitis semapv:ManualMappingCuration 2023-03-06 EFO:0009678 paralytic strabismus skos:exactMatch HP:0031775 Neurogenic strabismus semapv:ManualMappingCuration 2022-01-24 EFO:0009680 pleural empyema skos:exactMatch HP:0011919 Pleural empyema semapv:ManualMappingCuration 2022-01-24 EFO:0009696 social deprivation skos:exactMatch HP:0008763 No social interaction semapv:ManualMappingCuration 2023-12-04 EFO:0009706 latent autoimmune diabetes in adults skos:exactMatch HP:0100651 Type I diabetes mellitus semapv:ManualMappingCuration 2023-12-04 EFO:0009715 wheezing skos:exactMatch HP:0030828 Wheezing semapv:ManualMappingCuration 2023-12-04 EFO:0009752 visuospatial impairment skos:exactMatch HP:0010794 Impaired visuospatial constructive cognition semapv:ManualMappingCuration 2023-12-04 EFO:0009759 Chronic Obstructive Asthma skos:exactMatch HP:0002099 Asthma semapv:ManualMappingCuration 2023-12-04 EFO:0009761 periprosthetic osteolysis skos:exactMatch HP:0002797 Osteolysis semapv:ManualMappingCuration 2023-12-04 EFO:0009780 HER2 negative breast carcinoma skos:exactMatch HP:0003002 Breast carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0009781 progesterone-receptor negative breast cancer skos:exactMatch HP:0003002 Breast carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0009782 progesterone-receptor positive breast cancer skos:exactMatch HP:0003002 Breast carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0009784 central serous retinopathy skos:exactMatch HP:0025567 Central serous chorioretinopathy semapv:ManualMappingCuration 2023-12-04 EFO:0009785 remission skos:exactMatch HP:0034382 Disease remission semapv:ManualMappingCuration 2023-12-04 EFO:0009833 kidney injury skos:exactMatch HP:0001919 Acute kidney injury semapv:ManualMappingCuration 2023-12-04 EFO:0009839 bradypnea skos:exactMatch HP:0046507 Bradypnea semapv:ManualMappingCuration 2023-12-04 EFO:0009854 treatment resistant depression skos:exactMatch HP:0000716 Depression semapv:ManualMappingCuration 2023-12-04 EFO:0009855 frontal fibrosing alopecia skos:exactMatch HP:0001596 Alopecia semapv:ManualMappingCuration 2023-12-04 EFO:0009867 dysphoria skos:exactMatch HP:0033838 Dysphoria semapv:ManualMappingCuration 2023-12-04 EFO:0009869 xerostomia skos:exactMatch HP:0000217 Xerostomia semapv:ManualMappingCuration 2023-12-04 EFO:0009894 carbamazepine-induced hyponatremia skos:exactMatch HP:0002902 Hyponatremia semapv:ManualMappingCuration 2023-12-04 EFO:0009895 oxcarbazepine-induced hyponatremia skos:exactMatch HP:0002902 Hyponatremia semapv:ManualMappingCuration 2023-12-04 EFO:0009908 glabellar hemangioma skos:exactMatch HP:0001076 Glabellar hemangioma semapv:ManualMappingCuration 2022-01-24 EFO:0009909 stage 5 chronic kidney disease skos:exactMatch HP:0003774 Stage 5 chronic kidney disease semapv:ManualMappingCuration 2022-01-24 EFO:0009910 chronic lung disease skos:exactMatch HP:0006528 Chronic lung disease semapv:ManualMappingCuration 2022-01-24 EFO:0009911 hereditary nonpolyposis colorectal carcinoma skos:exactMatch HP:0006716 Hereditary nonpolyposis colorectal carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0009912 distal lower limb amyotrophy skos:exactMatch HP:0008944 Distal lower limb amyotrophy semapv:ManualMappingCuration 2022-01-24 EFO:0009913 ossifying fibroma of the jaw skos:exactMatch HP:0030427 Ossifying fibroma of the jaw semapv:ManualMappingCuration 2022-01-24 EFO:0009952 post-operative atrial fibrillation skos:exactMatch HP:0005110 Atrial fibrillation semapv:ManualMappingCuration 2023-12-04 EFO:0009953 post-operative myocardial infarction skos:exactMatch HP:0001658 Myocardial infarction semapv:ManualMappingCuration 2023-12-04 EFO:0009954 post-operative delirium skos:exactMatch HP:0031258 Delirium semapv:ManualMappingCuration 2023-12-04 EFO:0009955 post-operative acute kidney injury skos:exactMatch HP:0001919 Acute kidney injury semapv:ManualMappingCuration 2023-12-04 EFO:0009956 post-operative stroke skos:exactMatch HP:0001297 Stroke semapv:ManualMappingCuration 2023-12-04 EFO:0009959 diverticular disease skos:exactMatch HP:0002253 Colonic diverticula semapv:ManualMappingCuration 2023-12-04 EFO:0009960 atypical femoral fracture skos:exactMatch HP:0031846 Femur fracture semapv:ManualMappingCuration 2023-12-04 EFO:0009963 bipolar I disorder skos:exactMatch HP:0007302 Bipolar affective disorder semapv:ManualMappingCuration 2023-12-04 EFO:0009964 bipolar II disorder skos:exactMatch HP:0007302 Bipolar affective disorder semapv:ManualMappingCuration 2023-12-04 EFO:0009965 Schizoaffective disorder-bipolar type skos:exactMatch HP:0100753 Schizophrenia semapv:ManualMappingCuration 2023-12-04 EFO:0010059 cerebral microbleeds skos:exactMatch HP:0001342 Cerebral hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0010060 chronic human papillomavirus infection skos:exactMatch HP:0020114 Persistent human papillomavirus infection semapv:ManualMappingCuration 2023-12-04 EFO:0010099 chronic widespread pain skos:exactMatch HP:0012532 Chronic pain semapv:ManualMappingCuration 2023-12-04 EFO:0010100 multisite chronic pain skos:exactMatch HP:0012532 Chronic pain semapv:ManualMappingCuration 2023-12-04 EFO:0010131 decreased walking ability skos:exactMatch HP:0002355 obsolete Difficulty walking semapv:ManualMappingCuration 2023-12-04 EFO:0010132 decreased fine motor function skos:exactMatch HP:0007010 Poor fine motor coordination semapv:ManualMappingCuration 2023-12-04 EFO:0010177 lobar intracerebral hemorrhage skos:exactMatch HP:0001342 Cerebral hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0010269 amenorrhea skos:exactMatch HP:0000141 Amenorrhea semapv:ManualMappingCuration 2023-12-04 EFO:0010445 cocaine use disorder skos:exactMatch HP:0033513 Addictive cocaine use semapv:ManualMappingCuration 2023-12-04 EFO:0010638 atopic asthma skos:exactMatch HP:0002099 Asthma semapv:ManualMappingCuration 2023-12-04 EFO:0010698 retinal break skos:exactMatch HP:0011958 Retinal perforation semapv:ManualMappingCuration 2023-12-04 EFO:0010702 opioid use disorder skos:exactMatch HP:0033515 Addictive opioid use semapv:ManualMappingCuration 2023-12-04 EFO:0010817 self-injurious ideation skos:exactMatch HP:0100716 Self-injurious behavior semapv:ManualMappingCuration 2023-12-04 EFO:0010820 spontaneous coronary artery dissection skos:exactMatch HP:0006702 Coronary artery dissection semapv:ManualMappingCuration 2023-12-04 EFO:0010822 stenosing tenosynovitis skos:exactMatch HP:0012276 Digital flexor tenosynovitis semapv:ManualMappingCuration 2023-12-04 EFO:0020002 lack of efficacy skos:exactMatch HP:0020174 Refractory drug response semapv:ManualMappingCuration 2022-01-24 EFO:0020101 parenchymal hematoma skos:exactMatch HP:0001342 Cerebral hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0020106 cytomegalovirus virus reactivation skos:exactMatch HP:0034318 Unusual virus reactivation semapv:ManualMappingCuration 2023-12-04 EFO:0600058 blood group skos:exactMatch HP:0032223 Blood group semapv:ManualMappingCuration 2022-01-24 EFO:0600059 ABO blood group skos:exactMatch HP:0032223 Blood group semapv:ManualMappingCuration 2022-01-24 EFO:0600060 blood group A skos:exactMatch HP:0032370 Blood group A semapv:ManualMappingCuration 2022-01-24 EFO:0600061 blood group B skos:exactMatch HP:0032440 Blood group B semapv:ManualMappingCuration 2022-01-24 EFO:0600062 blood group AB skos:exactMatch HP:0032441 Blood group AB semapv:ManualMappingCuration 2022-01-24 EFO:0600063 blood group O skos:exactMatch HP:0032442 Blood group O semapv:ManualMappingCuration 2022-01-24 EFO:0803321 premature ejaculation skos:exactMatch HP:0012876 Premature ejaculation semapv:ManualMappingCuration 2023-03-06 EFO:0803361 hoarding disorder skos:exactMatch HP:0030212 Collectionism semapv:ManualMappingCuration 2023-12-04 EFO:1000014 acidosis skos:exactMatch HP:0001941 Acidosis semapv:ManualMappingCuration 2022-01-24 EFO:1000024 chronic rhinosinusitis skos:exactMatch HP:0011109 Chronic sinusitis semapv:ManualMappingCuration 2023-12-04 EFO:1000025 cystitis skos:exactMatch HP:0100577 Urinary bladder inflammation semapv:ManualMappingCuration 2023-12-04 EFO:1000042 ovarian clear cell adenocarcinoma skos:exactMatch HP:0100615 Ovarian neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000059 cervical artery dissection skos:exactMatch HP:0005294 Arterial dissection semapv:ManualMappingCuration 2023-12-04 EFO:1000062 lactose intolerance skos:exactMatch HP:0004789 Lactose intolerance semapv:ManualMappingCuration 2022-01-24 EFO:1000068 Acute Leukemia skos:exactMatch HP:0002488 Acute leukemia semapv:ManualMappingCuration 2022-01-24 EFO:1000103 Bartholin Gland Carcinoma skos:exactMatch HP:0030419 Bartholin gland carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000150 Cardiac Rhabdomyoma skos:exactMatch HP:0009729 Cardiac rhabdomyoma semapv:ManualMappingCuration 2022-01-24 EFO:1000151 Cavernous Hemangioma skos:exactMatch HP:0001048 Cavernous hemangioma semapv:ManualMappingCuration 2022-01-24 EFO:1000152 Cavernous Hemangioma of the Face skos:exactMatch HP:0007486 Cavernous hemangioma of the face semapv:ManualMappingCuration 2022-01-24 EFO:1000166 Cervical Intraepithelial Neoplasia Grade 2/3 skos:exactMatch HP:0032242 Cervical intraepithelial neoplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000185 Colon Juvenile Polyp skos:exactMatch HP:0012198 Juvenile colonic polyposis semapv:ManualMappingCuration 2023-12-04 EFO:1000218 Digestive System Carcinoma skos:exactMatch HP:0002672 Gastrointestinal carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000230 Endolymphatic Sac Tumor skos:exactMatch HP:0030393 Endolymphatic sac tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000244 Epithelioid Cell Uveal Melanoma skos:exactMatch HP:0007716 Uveal melanoma semapv:ManualMappingCuration 2023-12-04 EFO:1000280 Gastrointestinal Hamartoma skos:exactMatch HP:0004390 Hamartomatous polyposis semapv:ManualMappingCuration 2023-12-04 EFO:1000301 Inclusion Body Fibromatosis skos:exactMatch HP:0025197 Inclusion body fibromatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000330 Low Grade Vulvar Intraepithelial Neoplasia skos:exactMatch HP:0032202 Vulvar intraepithelial neoplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000355 Malignant Mesothelioma skos:exactMatch HP:0100001 Malignant mesothelioma semapv:ManualMappingCuration 2022-01-24 EFO:1000391 Nasal Cavity Polyp skos:exactMatch HP:0100582 Nasal polyposis semapv:ManualMappingCuration 2023-12-04 EFO:1000438 Palmar Fibromatosis skos:exactMatch HP:0005679 Dupuytren contracture semapv:ManualMappingCuration 2022-01-24 EFO:1000457 Parathyroid Hyperplasia skos:exactMatch HP:0008208 Parathyroid hyperplasia semapv:ManualMappingCuration 2022-01-24 EFO:1000467 Peritoneal Mesothelioma skos:exactMatch HP:0100003 Peritoneal mesothelioma semapv:ManualMappingCuration 2022-01-24 EFO:1000476 Pineocytoma skos:exactMatch HP:0030407 Pineocytoma semapv:ManualMappingCuration 2022-01-24 EFO:1000477 Pituicytoma skos:exactMatch HP:0011754 Pituicytoma semapv:ManualMappingCuration 2023-12-04 EFO:1000485 Pleural Mesothelioma skos:exactMatch HP:0100002 Pleural mesothelioma semapv:ManualMappingCuration 2022-01-24 EFO:1000573 Testicular Teratoma skos:exactMatch HP:0100616 Testicular teratoma semapv:ManualMappingCuration 2022-01-24 EFO:1000581 Thymoma skos:exactMatch HP:0100522 Thymoma semapv:ManualMappingCuration 2022-01-24 EFO:1000595 Thyroid Gland Undifferentiated (Anaplastic) Carcinoma skos:exactMatch HP:0011779 Anaplastic thyroid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000621 Vagus Nerve Paraganglioma skos:exactMatch HP:0002668 Paraganglioma semapv:ManualMappingCuration 2023-12-04 EFO:1000630 marginal zone B-cell lymphoma skos:exactMatch HP:0012191 B-cell lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000632 cerebral palsy skos:exactMatch HP:0100021 Cerebral palsy semapv:ManualMappingCuration 2022-01-24 EFO:1000633 adenomatous colon polyp skos:exactMatch HP:0005227 Adenomatous colonic polyposis semapv:ManualMappingCuration 2022-01-24 EFO:1000634 hamartoma skos:exactMatch HP:0010566 Hamartoma semapv:ManualMappingCuration 2022-01-24 EFO:1000635 hemangioma skos:exactMatch HP:0001028 Hemangioma semapv:ManualMappingCuration 2022-01-24 EFO:1000637 acute respiratory distress syndrome skos:exactMatch HP:0033677 Acute respiratory distress syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1000648 developmental dysplasia of the hip skos:exactMatch HP:0001385 Hip dysplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000649 estrogen-receptor positive breast cancer skos:exactMatch HP:0003002 Breast carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000650 estrogen-receptor negative breast cancer skos:exactMatch HP:0003002 Breast carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000651 recalcitrant atopic dermatitis skos:exactMatch HP:0001047 Atopic dermatitis semapv:ManualMappingCuration 2023-12-04 EFO:1000652 acute pancreatitis skos:exactMatch HP:0001735 Acute pancreatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000660 acanthosis nigricans skos:exactMatch HP:0000956 Acanthosis nigricans semapv:ManualMappingCuration 2022-01-24 EFO:1000675 cholesteatoma skos:exactMatch HP:0009797 Cholesteatoma semapv:ManualMappingCuration 2022-01-24 EFO:1000681 congenital generalized lipodystrophy skos:exactMatch HP:0009059 Congenital generalized lipodystrophy semapv:ManualMappingCuration 2022-01-24 EFO:1000697 exanthem skos:exactMatch HP:0000988 Skin rash semapv:ManualMappingCuration 2022-01-24 EFO:1000727 lipodystrophy skos:exactMatch HP:0009125 Lipodystrophy semapv:ManualMappingCuration 2022-01-24 EFO:1000757 porokeratosis skos:exactMatch HP:0200044 Porokeratosis semapv:ManualMappingCuration 2022-01-24 EFO:1000764 seborrheic dermatitis skos:exactMatch HP:0001051 Seborrheic dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000781 overactive bladder skos:exactMatch HP:0000012 Urinary urgency semapv:ManualMappingCuration 2022-01-24 EFO:1000786 osteoarthritis, hip skos:exactMatch HP:0008843 Hip osteoarthritis semapv:ManualMappingCuration 2023-12-04 EFO:1000789 osteoarthritis, hand skos:exactMatch HP:0004268 Osteoarthritis of the small joints of the hand semapv:ManualMappingCuration 2023-12-04 EFO:1000794 acute kidney tubular necrosis skos:exactMatch HP:0008682 Renal tubular epithelial necrosis semapv:ManualMappingCuration 2022-01-24 EFO:1000796 adrenal cortex carcinoma skos:exactMatch HP:0006744 Adrenocortical carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000797 adrenal gland hyperfunction skos:exactMatch HP:0003118 Increased circulating cortisol level semapv:ManualMappingCuration 2022-01-24 EFO:1000802 alcoholic liver cirrhosis skos:exactMatch HP:0001394 Cirrhosis semapv:ManualMappingCuration 2023-12-04 EFO:1000811 anterior uveitis skos:exactMatch HP:0012122 Anterior uveitis semapv:ManualMappingCuration 2022-01-24 EFO:1000824 asphyxia neonatorum skos:exactMatch HP:0012768 Neonatal asphyxia semapv:ManualMappingCuration 2023-12-04 EFO:1000826 atrophic gastritis skos:exactMatch HP:0002582 Atrophic gastritis semapv:ManualMappingCuration 2023-12-04 EFO:1000830 bacterial endocarditis skos:exactMatch HP:0006689 Bacterial endocarditis semapv:ManualMappingCuration 2022-01-24 EFO:1000831 bacterial meningitis skos:exactMatch HP:0007274 Recurrent bacterial meningitis semapv:ManualMappingCuration 2023-12-04 EFO:1000849 bronchial neoplasm skos:exactMatch HP:0030077 Bronchial neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000878 constrictive pericarditis skos:exactMatch HP:0002563 Constrictive pericarditis semapv:ManualMappingCuration 2022-01-24 EFO:1000881 coronary aneurysm skos:exactMatch HP:0030882 Coronary artery aneurysm semapv:ManualMappingCuration 2022-01-24 EFO:1000886 cutaneous mastocytosis skos:exactMatch HP:0200151 Cutaneous mastocytosis semapv:ManualMappingCuration 2022-01-24 EFO:1000898 diaphragmatic eventration skos:exactMatch HP:0009110 Diaphragmatic eventration semapv:ManualMappingCuration 2022-01-24 EFO:1000906 dry eye syndrome skos:exactMatch HP:0001097 Keratoconjunctivitis sicca semapv:ManualMappingCuration 2023-03-06 EFO:1000938 fibromuscular dysplasia skos:exactMatch HP:0005313 Arterial fibromuscular dysplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000948 gastroparesis skos:exactMatch HP:0002578 Gastroparesis semapv:ManualMappingCuration 2022-01-24 EFO:1000971 hyperemesis gravidarum skos:exactMatch HP:0012188 Hyperemesis gravidarum semapv:ManualMappingCuration 2022-01-24 EFO:1000975 hypersplenism skos:exactMatch HP:0001971 Hypersplenism semapv:ManualMappingCuration 2022-01-24 EFO:1000986 intermediate uveitis skos:exactMatch HP:0012124 Intermediate uveitis semapv:ManualMappingCuration 2022-01-24 EFO:1000997 iritis skos:exactMatch HP:0001101 Iritis semapv:ManualMappingCuration 2022-01-24 EFO:1001017 limited scleroderma skos:exactMatch HP:0100324 Scleroderma semapv:ManualMappingCuration 2023-12-04 EFO:1001022 low tension glaucoma skos:exactMatch HP:0000501 Glaucoma semapv:ManualMappingCuration 2023-12-04 EFO:1001062 nodular goiter skos:exactMatch HP:0005994 Nodular goiter semapv:ManualMappingCuration 2022-01-24 EFO:1001069 ocular hypertension skos:exactMatch HP:0007906 Ocular hypertension semapv:ManualMappingCuration 2023-12-04 EFO:1001078 orchitis skos:exactMatch HP:0100796 Orchitis semapv:ManualMappingCuration 2022-01-24 EFO:1001082 panuveitis skos:exactMatch HP:0012121 Panuveitis semapv:ManualMappingCuration 2022-01-24 EFO:1001087 parathyroid adenoma skos:exactMatch HP:0002897 Parathyroid adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1001132 pseudotumor cerebri skos:exactMatch HP:0002516 Increased intracranial pressure semapv:ManualMappingCuration 2023-12-04 EFO:1001141 pyelonephritis skos:exactMatch HP:0012330 Pyelonephritis semapv:ManualMappingCuration 2023-12-04 EFO:1001153 renovascular hypertension skos:exactMatch HP:0100817 Renovascular hypertension semapv:ManualMappingCuration 2022-01-24 EFO:1001173 secondary hyperparathyroidism skos:exactMatch HP:0000867 Secondary hyperparathyroidism semapv:ManualMappingCuration 2022-01-24 EFO:1001176 sensorineural hearing loss skos:exactMatch HP:0000407 Sensorineural hearing impairment semapv:ManualMappingCuration 2022-01-24 EFO:1001178 shoulder impingement syndrome skos:exactMatch HP:0030881 Shoulder impingement semapv:ManualMappingCuration 2023-12-04 EFO:1001212 thyroid crisis skos:exactMatch HP:0011782 Thyroid crisis semapv:ManualMappingCuration 2022-01-24 EFO:1001218 tricuspid valve prolapse skos:exactMatch HP:0001704 Tricuspid valve prolapse semapv:ManualMappingCuration 2022-01-24 EFO:1001227 ureterocele skos:exactMatch HP:0000070 Ureterocele semapv:ManualMappingCuration 2022-01-24 EFO:1001231 uveitis skos:exactMatch HP:0000554 Uveitis semapv:ManualMappingCuration 2022-01-24 EFO:1001237 vitamin A deficiency skos:exactMatch HP:0004905 Reduced circulating vitamin A concentration semapv:ManualMappingCuration 2022-01-24 EFO:1001250 rotator cuff tear skos:exactMatch HP:0032201 Rotator cuff tear semapv:ManualMappingCuration 2023-12-04 EFO:1001252 gastric cardia carcinoma skos:exactMatch HP:0012126 Stomach cancer semapv:ManualMappingCuration 2023-12-04 EFO:1001254 noise-induced hearing loss skos:exactMatch HP:0000365 Hearing impairment semapv:ManualMappingCuration 2023-12-04 EFO:1001267 Aortic Coarctation skos:exactMatch HP:0001680 Coarctation of aorta semapv:ManualMappingCuration 2023-12-04 EFO:1001289 Cholecystitis, Acute skos:exactMatch HP:0001082 Cholecystitis semapv:ManualMappingCuration 2023-12-04 EFO:1001293 collagenous colitis skos:exactMatch HP:0002583 Colitis semapv:ManualMappingCuration 2023-12-04 EFO:1001295 microscopic colitis skos:exactMatch HP:0002583 Colitis semapv:ManualMappingCuration 2023-12-04 EFO:1001298 Coxa Vara skos:exactMatch HP:0002812 Coxa vara semapv:ManualMappingCuration 2022-01-24 EFO:1001304 Dental enamel hypoplasia skos:exactMatch HP:0006297 Enamel hypoplasia semapv:ManualMappingCuration 2023-12-04 EFO:1001318 Escherichia coli Infections skos:exactMatch HP:0002740 Recurrent E. coli infections semapv:ManualMappingCuration 2022-01-24 EFO:1001362 Lung Abscess skos:exactMatch HP:0025044 Lung abscess semapv:ManualMappingCuration 2022-01-24 EFO:1001436 thyroid nodule skos:exactMatch HP:0025388 Thyroid nodule semapv:ManualMappingCuration 2023-12-04 EFO:1001437 Tracheal neoplasm skos:exactMatch HP:0100551 Neoplasm of the trachea semapv:ManualMappingCuration 2022-01-24 EFO:1001450 Wolff-Parkinson-White Syndrome skos:exactMatch HP:0001716 Wolff-Parkinson-White syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001462 erysipelas skos:exactMatch HP:0001055 Erysipelas semapv:ManualMappingCuration 2022-01-24 EFO:1001481 enterocolitis skos:exactMatch HP:0004387 Enterocolitis semapv:ManualMappingCuration 2022-01-24 EFO:1001483 non-obstructive coronary artery disease skos:exactMatch HP:0012436 Nonocclusive coronary artery atherosclerosis semapv:ManualMappingCuration 2022-01-24 EFO:1001486 primary biliary cirrhosis skos:exactMatch HP:0002613 Biliary cirrhosis semapv:ManualMappingCuration 2023-12-04 EFO:1001492 atrophic macular degeneration skos:exactMatch HP:0031609 Geographic atrophy semapv:ManualMappingCuration 2023-12-04 EFO:1001495 small artery occlusion skos:exactMatch HP:0032325 Lacunar stroke semapv:ManualMappingCuration 2023-12-04 EFO:1001504 small vessel stroke skos:exactMatch HP:0032325 Lacunar stroke semapv:ManualMappingCuration 2023-12-04 EFO:1001505 cystic liver disease skos:exactMatch HP:0006706 Cystic liver disease semapv:ManualMappingCuration 2022-01-24 EFO:1001506 primary angle closure glaucoma skos:exactMatch HP:0012109 Angle closure glaucoma semapv:ManualMappingCuration 2022-01-24 EFO:1001507 asparaginase-induced acute pancreatitis skos:exactMatch HP:0001735 Acute pancreatitis semapv:ManualMappingCuration 2023-12-04 EFO:1001510 specific language impairment skos:exactMatch HP:0002463 Language impairment semapv:ManualMappingCuration 2023-12-04 EFO:1001512 endometrial carcinoma skos:exactMatch HP:0012114 Endometrial carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001513 liver neoplasm skos:exactMatch HP:0002896 Neoplasm of the liver semapv:ManualMappingCuration 2023-12-04 EFO:1001514 endometrial endometrioid carcinoma skos:exactMatch HP:0012114 Endometrial carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001515 ovarian endometrioid carcinoma skos:exactMatch HP:0025318 Ovarian carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001516 ovarian serous carcinoma skos:exactMatch HP:0025318 Ovarian carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001517 renal fibrosis skos:exactMatch HP:0030760 Renal fibrosis semapv:ManualMappingCuration 2022-01-24 EFO:1001754 Abruptio Placentae skos:exactMatch HP:0011419 Placental abruption semapv:ManualMappingCuration 2022-01-24 EFO:1001758 ageusia skos:exactMatch HP:0041051 Ageusia semapv:ManualMappingCuration 2023-12-04 EFO:1001760 aneurysmal bone cyst skos:exactMatch HP:0012063 Aneurysmal bone cyst semapv:ManualMappingCuration 2022-01-24 EFO:1001791 femoral hernia skos:exactMatch HP:0100541 Femoral hernia semapv:ManualMappingCuration 2023-12-04 EFO:1001864 uterine prolapse skos:exactMatch HP:0000139 Uterine prolapse semapv:ManualMappingCuration 2023-12-04 EFO:1001866 ventral hernia skos:exactMatch HP:0002933 Ventral hernia semapv:ManualMappingCuration 2023-12-04 EFO:1001871 acquired cold urticaria skos:exactMatch HP:0410135 Cold urticaria semapv:ManualMappingCuration 2023-12-04 EFO:1001875 amyloidosis skos:exactMatch HP:0011034 Amyloidosis semapv:ManualMappingCuration 2022-01-24 EFO:1001892 generalized anxiety disorder skos:exactMatch HP:0000739 Anxiety semapv:ManualMappingCuration 2023-12-04 EFO:1001904 oral mucositis skos:exactMatch HP:0010280 Stomatitis semapv:ManualMappingCuration 2023-12-04 EFO:1001927 cutaneous squamous cell carcinoma skos:exactMatch HP:0006739 Squamous cell carcinoma of the skin semapv:ManualMappingCuration 2023-12-04 EFO:1001929 selective IgA deficiency disease skos:exactMatch HP:0002720 Decreased circulating IgA concentration semapv:ManualMappingCuration 2023-12-04 EFO:1001950 colon carcinoma skos:exactMatch HP:0003003 Colon cancer semapv:ManualMappingCuration 2023-12-04 EFO:1001979 Adrenocorticotropic hormone deficiency skos:exactMatch HP:0011748 Adrenocorticotropic hormone deficiency semapv:ManualMappingCuration 2022-01-24 EFO:1001984 cardiac amyloidosis skos:exactMatch HP:0030843 Cardiac amyloidosis semapv:ManualMappingCuration 2023-12-04 EFO:1001993 scleroderma skos:exactMatch HP:0100324 Scleroderma semapv:ManualMappingCuration 2022-01-24 EFO:1001999 systemic juvenile idiopathic arthritis skos:exactMatch HP:0005681 Juvenile rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:1002000 Takotsubo cardiomyopathy skos:exactMatch HP:0011665 Takotsubo cardiomyopathy semapv:ManualMappingCuration 2022-01-24 EFO:1002006 treatment-resistant hypertension skos:exactMatch HP:0000822 Hypertension semapv:ManualMappingCuration 2023-12-04 EFO:1002006 treatment-resistant hypertension skos:exactMatch HP:0430034 Hypertension resistant to conventional therapy semapv:ManualMappingCuration 2024-09-14 EFO:1002009 macular telangiectasia type 2 skos:exactMatch HP:0030503 Macular telangiectasia semapv:ManualMappingCuration 2023-12-04 EFO:1002013 alcoholic pancreatitis skos:exactMatch HP:0001733 Pancreatitis semapv:ManualMappingCuration 2023-12-04 EFO:1002017 differentiated thyroid carcinoma skos:exactMatch HP:0002890 Thyroid carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1002019 oligoarticular juvenile idiopathic arthritis skos:exactMatch HP:0005681 Juvenile rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:1002020 polyarticular juvenile idiopathic arthritis, rheumatoid factor negative skos:exactMatch HP:0005681 Juvenile rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:1002027 osteomalacia skos:exactMatch HP:0002749 Osteomalacia semapv:ManualMappingCuration 2022-01-24 EFO:1002031 Hodgkins lymphoma, mixed cellularity skos:exactMatch HP:0012189 Hodgkin lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1002040 Corneal astigmatism skos:exactMatch HP:0025612 Corneal astigmatism semapv:ManualMappingCuration 2023-12-04 HP:0000005 Mode of inheritance skos:exactMatch HP:0001425 obsolete Heterogeneous semapv:ManualMappingCuration 2023-03-17 HP:0000005 Mode of inheritance skos:exactMatch HP:0010985 obsolete Gonosomal inheritance semapv:ManualMappingCuration 2023-03-17 HP:0000006 Autosomal dominant inheritance skos:exactMatch HP:0001452 obsolete Autosomal dominant contiguous gene syndrome semapv:ManualMappingCuration 2024-04-21 HP:0000007 Autosomal recessive inheritance skos:exactMatch HP:0031362 obsolete Sex-limited autosomal recessive inheritance semapv:ManualMappingCuration 2024-04-21 HP:0000044 Hypogonadotropic hypogonadism skos:exactMatch HP:0003335 obsolete Low gonadotropins (secondary hypogonadism) semapv:ManualMappingCuration 2023-03-17 HP:0000046 Small scrotum skos:exactMatch HP:0030276 obsolete Small scrotum semapv:ManualMappingCuration 2023-03-17 HP:0000096 Glomerular sclerosis skos:exactMatch HP:0030761 obsolete Renal glomerular fibrosis semapv:ManualMappingCuration 2024-04-21 HP:0000132 Menorrhagia skos:exactMatch HP:0100609 obsolete Hypermenorrhea semapv:ManualMappingCuration 2023-03-17 HP:0000175 Cleft palate skos:exactMatch HP:0410004 obsolete Cleft secondary palate semapv:ManualMappingCuration 2023-03-17 HP:0000256 Macrocephaly skos:exactMatch HP:0200135 obsolete Macrocephaly due to hydrocephalus semapv:ManualMappingCuration 2023-03-17 HP:0000286 Epicanthus skos:exactMatch HP:0007930 obsolete Prominent epicanthal folds semapv:ManualMappingCuration 2023-03-17 HP:0000349 Widow's peak skos:exactMatch HP:0004544 obsolete Pointed frontal hairline semapv:ManualMappingCuration 2023-03-17 HP:0000377 Abnormal pinna morphology skos:exactMatch HP:0008572 obsolete External ear malformation semapv:ManualMappingCuration 2024-02-18 HP:0000377 Abnormal pinna morphology skos:exactMatch HP:0040111 obsolete Bilateral external ear deformity semapv:ManualMappingCuration 2023-03-17 HP:0000411 Protruding ear skos:exactMatch HP:0000412 Prominent ears semapv:ManualMappingCuration 2023-03-17 HP:0000444 Convex nasal ridge skos:exactMatch HP:0003683 obsolete Large beaked nose semapv:ManualMappingCuration 2023-03-17 HP:0000463 Anteverted nares skos:exactMatch HP:0004495 obsolete Thin anteverted nares semapv:ManualMappingCuration 2023-03-17 HP:0000486 Strabismus skos:exactMatch HP:0000487 obsolete Congenital strabismus semapv:ManualMappingCuration 2023-03-17 HP:0000505 Visual impairment skos:exactMatch HP:0007758 obsolete Congenital visual impairment semapv:ManualMappingCuration 2023-03-17 HP:0000518 Cataract skos:exactMatch HP:0001113 obsolete Early cataracts semapv:ManualMappingCuration 2024-04-21 HP:0000518 Cataract skos:exactMatch HP:0007825 obsolete Cataracts develop in second or third decade semapv:ManualMappingCuration 2024-04-21 HP:0000518 Cataract skos:exactMatch HP:0010700 obsolete Total cataract semapv:ManualMappingCuration 2024-04-21 HP:0000519 Developmental cataract skos:exactMatch HP:0007692 obsolete Nonnuclear polymorphic congenital cataract semapv:ManualMappingCuration 2023-03-17 HP:0000526 Aniridia skos:exactMatch HP:0011498 obsolete Partial aniridia semapv:ManualMappingCuration 2024-04-21 HP:0000545 Myopia skos:exactMatch HP:0008012 obsolete Congenital myopia semapv:ManualMappingCuration 2023-03-17 HP:0000556 Retinal dystrophy skos:exactMatch HP:0007736 obsolete Pericentral retinal dystrophy semapv:ManualMappingCuration 2024-04-21 HP:0000556 Retinal dystrophy skos:exactMatch HP:0007910 obsolete Nonprogressive congenital retinal dystrophy semapv:ManualMappingCuration 2024-04-21 HP:0000556 Retinal dystrophy skos:exactMatch HP:0007982 obsolete Central tapetoretinal dystrophy semapv:ManualMappingCuration 2024-04-21 HP:0000577 Exotropia skos:exactMatch HP:0008033 obsolete Congenital exotropia semapv:ManualMappingCuration 2023-03-17 HP:0000580 Pigmentary retinopathy skos:exactMatch HP:0001146 obsolete Pigmentary retinal degeneration semapv:ManualMappingCuration 2023-03-17 HP:0000580 Pigmentary retinopathy skos:exactMatch HP:0007702 obsolete Pigmentary retinal deposits semapv:ManualMappingCuration 2023-03-17 HP:0000580 Pigmentary retinopathy skos:exactMatch HP:0007852 obsolete Pericentral pigmentary retinopathy semapv:ManualMappingCuration 2023-03-17 HP:0000580 Pigmentary retinopathy skos:exactMatch HP:0007869 obsolete Peripheral retinopathy semapv:ManualMappingCuration 2023-03-17 HP:0000580 Pigmentary retinopathy skos:exactMatch HP:0007961 obsolete Rarefaction of retinal pigmentation semapv:ManualMappingCuration 2023-03-17 HP:0000608 Macular degeneration skos:exactMatch HP:0007868 obsolete Age-related macular degeneration semapv:ManualMappingCuration 2024-04-21 HP:0000610 Abnormal choroid morphology skos:exactMatch HP:0001122 obsolete Aplasia/Hypoplasia of the choroid semapv:ManualMappingCuration 2023-03-17 HP:0000618 Blindness skos:exactMatch HP:0007839 Blindness in infancy or very early childhood semapv:ManualMappingCuration 2023-03-17 HP:0000712 Emotional lability skos:exactMatch HP:0000720 obsolete Mood swings semapv:ManualMappingCuration 2023-03-17 HP:0000712 Emotional lability skos:exactMatch HP:0001575 obsolete Mood changes semapv:ManualMappingCuration 2023-03-17 HP:0000765 Abnormal thorax morphology skos:exactMatch HP:0100655 Thoracic wall defect semapv:ManualMappingCuration 2023-03-17 HP:0000926 Platyspondyly skos:exactMatch HP:0003421 obsolete Platyspondyly (childhood) semapv:ManualMappingCuration 2024-04-21 HP:0000964 Eczematoid dermatitis skos:exactMatch HP:0000976 obsolete Eczematoid dermatitis semapv:ManualMappingCuration 2024-02-18 HP:0000972 Palmoplantar hyperkeratosis skos:exactMatch HP:0007548 obsolete Palmoplantar keratosis with erythema and scale semapv:ManualMappingCuration 2024-04-21 HP:0000975 Hyperhidrosis skos:exactMatch HP:0001011 obsolete Diaphoresis (with pheochromocytoma) semapv:ManualMappingCuration 2023-03-17 HP:0001249 Intellectual disability skos:exactMatch HP:0006877 obsolete Mental retardation, in some semapv:ManualMappingCuration 2023-03-17 HP:0001252 Hypotonia skos:exactMatch HP:0011398 obsolete Central hypotonia semapv:ManualMappingCuration 2023-03-17 HP:0001263 Global developmental delay skos:exactMatch HP:0025356 obsolete Psychomotor retardation semapv:ManualMappingCuration 2023-03-17 HP:0001302 Pachygyria skos:exactMatch HP:0007227 obsolete Macrogyria semapv:ManualMappingCuration 2024-02-18 HP:0001319 Neonatal hypotonia skos:exactMatch HP:0006830 obsolete Severe neonatal hypotonia in males semapv:ManualMappingCuration 2023-03-17 HP:0001321 Cerebellar hypoplasia skos:exactMatch HP:0007053 Pontocerebellar hypoplasia semapv:ManualMappingCuration 2023-03-17 HP:0001336 Myoclonus skos:exactMatch HP:0007087 obsolete Involuntary jerking movements semapv:ManualMappingCuration 2023-03-17 HP:0001373 Joint dislocation skos:exactMatch HP:0005837 obsolete Joint dislocations in young adult semapv:ManualMappingCuration 2023-03-17 HP:0001382 Joint hypermobility skos:exactMatch HP:0001380 obsolete Ligamentous laxity semapv:ManualMappingCuration 2024-01-21 HP:0001382 Joint hypermobility skos:exactMatch HP:0001388 obsolete Joint laxity semapv:ManualMappingCuration 2024-01-21 HP:0001382 Joint hypermobility skos:exactMatch HP:0005692 obsolete Joint hyperflexibility semapv:ManualMappingCuration 2024-01-21 HP:0001605 Vocal cord paralysis skos:exactMatch HP:0001606 obsolete Vocal cord paralysis (caused by tumor impingement) semapv:ManualMappingCuration 2023-03-17 HP:0001609 Hoarse voice skos:exactMatch HP:0001613 obsolete Hoarse voice (caused by tumor impingement) semapv:ManualMappingCuration 2024-04-21 HP:0001626 Abnormality of the cardiovascular system skos:exactMatch HP:0003116 obsolete Abnormal echocardiogram semapv:ManualMappingCuration 2023-03-17 HP:0001627 Abnormal heart morphology skos:exactMatch HP:3000001 obsolete Abnormal heart morphology semapv:ManualMappingCuration 2023-03-17 HP:0001633 Abnormal mitral valve morphology skos:exactMatch HP:0031477 obsolete Abnormal mitral valve morphology semapv:ManualMappingCuration 2023-11-19 HP:0001644 Dilated cardiomyopathy skos:exactMatch HP:0200130 Congestive cardiomyopathy semapv:ManualMappingCuration 2024-04-21 HP:0001649 Tachycardia skos:exactMatch HP:0001673 obsolete Tachycardia (with pheochromocytoma) semapv:ManualMappingCuration 2023-03-17 HP:0001671 Abnormal cardiac septum morphology skos:exactMatch HP:0004760 obsolete Congenital septal defect semapv:ManualMappingCuration 2023-03-17 HP:0001679 Abnormal aortic morphology skos:exactMatch HP:0030963 obsolete Abnormal aortic morphology semapv:ManualMappingCuration 2023-03-17 HP:0001684 Secundum atrial septal defect skos:exactMatch HP:0200131 Ostium secundum atrial septal defect semapv:ManualMappingCuration 2023-03-17 HP:0001702 Abnormal tricuspid valve morphology skos:exactMatch HP:0031440 obsolete Abnormal tricuspid valve morphology semapv:ManualMappingCuration 2024-04-21 HP:0001761 Pes cavus skos:exactMatch HP:0008075 obsolete Progressive pes cavus semapv:ManualMappingCuration 2023-06-18 HP:0001789 Hydrops fetalis skos:exactMatch HP:0005099 obsolete Severe hydrops fetalis semapv:ManualMappingCuration 2024-04-21 HP:0001939 Abnormality of metabolism/homeostasis skos:exactMatch HP:0004355 obsolete Abnormality of proteoglycan metabolism semapv:ManualMappingCuration 2023-03-17 HP:0001939 Abnormality of metabolism/homeostasis skos:exactMatch HP:0004367 obsolete Abnormality of glycoprotein metabolism semapv:ManualMappingCuration 2023-03-17 HP:0001952 Glucose intolerance skos:exactMatch HP:0000833 obsolete Glucose intolerance semapv:ManualMappingCuration 2023-03-17 HP:0001962 Palpitations skos:exactMatch HP:0001676 obsolete Palpitations (with pheochromocytoma) semapv:ManualMappingCuration 2023-03-17 HP:0002011 Morphological central nervous system abnormality skos:exactMatch HP:0007319 Morphological abnormality of the central nervous system semapv:ManualMappingCuration 2023-03-17 HP:0002091 Restrictive ventilatory defect skos:exactMatch HP:0002111 obsolete Restrictive deficit on pulmonary function testing semapv:ManualMappingCuration 2023-03-17 HP:0002093 Respiratory insufficiency skos:exactMatch HP:0004893 progressive respiratory failure semapv:ManualMappingCuration 2023-03-17 HP:0002093 Respiratory insufficiency skos:exactMatch HP:0005937 Respiratory function loss semapv:ManualMappingCuration 2023-03-17 HP:0002098 Respiratory distress skos:exactMatch HP:0002880 obsolete Respiratory difficulties semapv:ManualMappingCuration 2024-04-21 HP:0002121 Generalized non-motor (absence) seizure skos:exactMatch HP:0011148 obsolete Absence seizures with special features semapv:ManualMappingCuration 2023-03-17 HP:0002209 Sparse scalp hair skos:exactMatch HP:0004782 obsolete Hypotrichosis of the scalp semapv:ManualMappingCuration 2024-04-21 HP:0002282 Gray matter heterotopia skos:exactMatch HP:0002281 obsolete Gray matter heterotopias semapv:ManualMappingCuration 2023-03-17 HP:0002282 Gray matter heterotopia skos:exactMatch HP:0007314 obsolete White matter neuronal heterotopia semapv:ManualMappingCuration 2023-03-17 HP:0002293 Alopecia of scalp skos:exactMatch HP:0200115 Scalp hair loss semapv:ManualMappingCuration 2023-03-17 HP:0002305 Athetosis skos:exactMatch HP:0007316 obsolete Involuntary writhing movements semapv:ManualMappingCuration 2023-11-19 HP:0002313 Spastic paraparesis skos:exactMatch HP:0007191 Tropical spastic paraparesis semapv:ManualMappingCuration 2023-03-17 HP:0002381 Aphasia skos:exactMatch HP:0002357 obsolete Dysphasia semapv:ManualMappingCuration 2023-03-17 HP:0002505 Loss of ambulation skos:exactMatch HP:0006957 obsolete Loss of ability to walk semapv:ManualMappingCuration 2023-04-17 HP:0002508 Brainstem dysplasia skos:exactMatch HP:0006991 Brainstem hypoplasia/dysplasia semapv:ManualMappingCuration 2023-03-17 HP:0002510 Spastic tetraplegia skos:exactMatch HP:0006983 obsolete Slowly progressive spastic quadriparesis semapv:ManualMappingCuration 2023-03-17 HP:0002616 Aortic root aneurysm skos:exactMatch HP:0002631 obsolete Dilatation of ascending aorta semapv:ManualMappingCuration 2023-03-17 HP:0002647 Aortic dissection skos:exactMatch HP:0002622 obsolete Dissecting aortic dilatation semapv:ManualMappingCuration 2023-03-17 HP:0002683 Abnormal calvaria morphology skos:exactMatch HP:0002648 obsolete Abnormality of calvarial morphology semapv:ManualMappingCuration 2024-02-18 HP:0003011 Abnormality of the musculature skos:exactMatch HP:0040290 obsolete Abnormality of skeletal muscles semapv:ManualMappingCuration 2023-03-17 HP:0003072 Hypercalcemia skos:exactMatch HP:0008250 obsolete Infantile hypercalcemia semapv:ManualMappingCuration 2023-04-17 HP:0003076 Glycosuria skos:exactMatch HP:0011016 obsolete Abnormality of urine glucose concentration semapv:ManualMappingCuration 2023-03-17 HP:0003077 Hyperlipidemia skos:exactMatch HP:0008356 obsolete Combined hyperlipidemia semapv:ManualMappingCuration 2024-04-21 HP:0003150 Glutaric aciduria skos:exactMatch HP:0003490 obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA semapv:ManualMappingCuration 2023-03-17 HP:0003355 Aminoaciduria skos:exactMatch HP:0008335 obsolete Renal aminoaciduria semapv:ManualMappingCuration 2024-04-21 HP:0003394 Muscle spasm skos:exactMatch HP:0031988 obsolete Muscle spasm semapv:ManualMappingCuration 2023-03-17 HP:0003560 Muscular dystrophy skos:exactMatch HP:0003741 obsolete Congenital muscular dystrophy semapv:ManualMappingCuration 2024-04-21 HP:0003560 Muscular dystrophy skos:exactMatch HP:0007081 obsolete Late-onset muscular dystrophy semapv:ManualMappingCuration 2024-04-21 HP:0003674 Onset skos:exactMatch HP:0011007 Age of onset semapv:ManualMappingCuration 2023-03-17 HP:0004277 Fractured hand bones skos:exactMatch HP:0041232 obsolete Fractured skeleton of manual acropodium semapv:ManualMappingCuration 2023-03-17 HP:0004319 Decreased circulating aldosterone level skos:exactMatch HP:0002924 obsolete Decreased circulating aldosterone level semapv:ManualMappingCuration 2024-04-21 HP:0004324 Increased body weight skos:exactMatch HP:0045083 obsolete Increased body mass index semapv:ManualMappingCuration 2023-03-17 HP:0004363 Abnormal circulating calcium concentration skos:exactMatch HP:0040077 obsolete Abnormal concentration of calcium in blood semapv:ManualMappingCuration 2023-03-17 HP:0004751 Paroxysmal ventricular tachycardia skos:exactMatch HP:0005141 obsolete Episodes of ventricular tachycardia semapv:ManualMappingCuration 2023-03-17 HP:0004763 Paroxysmal supraventricular tachycardia skos:exactMatch HP:0004765 Episodic supraventricular tachycardia semapv:ManualMappingCuration 2023-03-17 HP:0006517 Intraalveolar phospholipid accumulation skos:exactMatch HP:0032982 obsolete Intraalveolar phospholipid accumulation semapv:ManualMappingCuration 2023-03-17 HP:0006695 Atrioventricular canal defect skos:exactMatch HP:0005298 obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia semapv:ManualMappingCuration 2023-03-17 HP:0006767 Pituitary prolactin cell adenoma skos:exactMatch HP:0040278 obsolete Prolactinoma semapv:ManualMappingCuration 2024-02-18 HP:0006872 Cerebral hypoplasia skos:exactMatch HP:0001322 obsolete Brain very small semapv:ManualMappingCuration 2023-03-17 HP:0007359 Focal-onset seizure skos:exactMatch HP:0040168 obsolete Focal seizures, afebril semapv:ManualMappingCuration 2023-03-17 HP:0007447 Diffuse palmoplantar hyperkeratosis skos:exactMatch HP:0007435 obsolete Diffuse palmoplantar keratoderma semapv:ManualMappingCuration 2024-04-21 HP:0007663 Reduced visual acuity skos:exactMatch HP:0007739 obsolete Mildly reduced visual acuity semapv:ManualMappingCuration 2023-03-17 HP:0007663 Reduced visual acuity skos:exactMatch HP:0008008 obsolete Progressive central visual loss semapv:ManualMappingCuration 2023-03-17 HP:0007722 Retinal pigment epithelial atrophy skos:exactMatch HP:0007698 obsolete Retinal pigment epithelial atrophy semapv:ManualMappingCuration 2023-03-17 HP:0007722 Retinal pigment epithelial atrophy skos:exactMatch HP:0008017 obsolete Depigmented lesions of the retinal pigment epithelium semapv:ManualMappingCuration 2023-03-17 HP:0007754 Macular dystrophy skos:exactMatch HP:0007798 obsolete Foveal dystrophy semapv:ManualMappingCuration 2023-03-17 HP:0007773 Vitreoretinopathy skos:exactMatch HP:0000655 obsolete Vitreoretinal degeneration semapv:ManualMappingCuration 2024-04-21 HP:0007858 Chorioretinal lacunae skos:exactMatch HP:0007786 obsolete Lacunar retinal depigmentation semapv:ManualMappingCuration 2024-04-21 HP:0008070 Sparse hair skos:exactMatch HP:0001006 obsolete Hypotrichosis semapv:ManualMappingCuration 2024-04-21 HP:0008209 Premature ovarian insufficiency skos:exactMatch HP:0001587 obsolete Primary ovarian failure semapv:ManualMappingCuration 2023-03-17 HP:0008209 Premature ovarian insufficiency skos:exactMatch HP:0100805 obsolete Precocious menopause semapv:ManualMappingCuration 2023-03-17 HP:0010668 Abnormal zygomatic bone morphology skos:exactMatch HP:0012369 obsolete Abnormal malar bone morphology semapv:ManualMappingCuration 2023-03-17 HP:0011017 Abnormal cellular physiology skos:exactMatch HP:0025462 obsolete Abnormal cellular physiology semapv:ManualMappingCuration 2023-03-17 HP:0011675 Arrhythmia skos:exactMatch HP:0001675 obsolete Rhythm disturbances associated with pheochromocytoma semapv:ManualMappingCuration 2024-04-21 HP:0011800 Midface retrusion skos:exactMatch HP:0040199 obsolete Flat midface semapv:ManualMappingCuration 2023-03-17 HP:0011840 Abnormality of T cell physiology skos:exactMatch HP:0005402 obsolete Primary T-lymphocyte immune abnormalities semapv:ManualMappingCuration 2023-03-17 HP:0012332 Abnormal autonomic nervous system physiology skos:exactMatch HP:0002271 obsolete Autonomic dysregulation semapv:ManualMappingCuration 2023-03-17 HP:0012332 Abnormal autonomic nervous system physiology skos:exactMatch HP:0002459 obsolete Dysautonomia semapv:ManualMappingCuration 2023-03-17 HP:0012760 Reduced social responsiveness skos:exactMatch HP:0000735 obsolete Impaired social interactions semapv:ManualMappingCuration 2024-03-24 HP:0012760 Reduced social responsiveness skos:exactMatch HP:5200004 obsolete Reduced response to another's attempt to get direct attention semapv:ManualMappingCuration 2024-07-07 HP:0012760 Reduced social responsiveness skos:exactMatch HP:5200103 obsolete Reduced social responsiveness semapv:ManualMappingCuration 2024-07-07 HP:0012760 Reduced social responsiveness skos:exactMatch HP:5200131 obsolete Reduced use of language for social purposes semapv:ManualMappingCuration 2024-07-07 HP:0030051 Tip-toe gait skos:exactMatch HP:0002394 Walking on tiptoes semapv:ManualMappingCuration 2023-03-17 HP:0030051 Tip-toe gait skos:exactMatch HP:0040083 obsolete Toe walking semapv:ManualMappingCuration 2023-03-17 HP:0030241 Hypoplasia of deltoid muscle skos:exactMatch HP:0009044 obsolete Hypoplasia of deltoid muscle semapv:ManualMappingCuration 2023-11-19 HP:0030680 Abnormal cardiovascular system morphology skos:exactMatch HP:0002564 obsolete Malformation of the heart and great vessels semapv:ManualMappingCuration 2023-03-17 HP:0030878 Abnormality on pulmonary function testing skos:exactMatch HP:0032340 obsolete Abnormal spirometry test semapv:ManualMappingCuration 2023-03-17 HP:0031685 Abnormal stool composition skos:exactMatch HP:0032483 obsolete Abnormal fecal test result semapv:ManualMappingCuration 2023-03-17 HP:0045075 Sparse eyebrow skos:exactMatch HP:0000535 obsolete Sparse and thin eyebrow semapv:ManualMappingCuration 2023-09-24 HP:0100255 Metaphyseal dysplasia skos:exactMatch HP:0005899 obsolete Metaphyseal dysostosis semapv:ManualMappingCuration 2024-04-21 HP:0100523 Liver abscess skos:exactMatch HP:0001400 obsolete Hepatic abscesses due to immunodeficiency semapv:ManualMappingCuration 2023-03-17 HP:0100585 Telangiectasia of the skin skos:exactMatch HP:0007561 obsolete Telangiectases in sun-exposed and nonexposed skin semapv:ManualMappingCuration 2023-03-17 HP:0100658 Cellulitis skos:exactMatch HP:0003553 obsolete Cellulitis due to immunodeficiency semapv:ManualMappingCuration 2024-04-21 HP:0200065 Chorioretinal degeneration skos:exactMatch HP:0007945 obsolete Choroidal degeneration semapv:ManualMappingCuration 2023-03-17 MONDO:0000088 precocious puberty skos:exactMatch HP:0000826 Precocious puberty semapv:ManualMappingCuration 2023-03-17 MONDO:0000129 glutaric aciduria skos:exactMatch HP:0003150 Glutaric aciduria semapv:ManualMappingCuration 2023-03-17 MONDO:0000129 glutaric aciduria skos:exactMatch HP:0003530 Elevated circulating glutaric acid concentration semapv:ManualMappingCuration 2023-03-17 MONDO:0000313 hypophosphatemia skos:exactMatch HP:0002148 Hypophosphatemia semapv:ManualMappingCuration 2024-04-21 MONDO:0000328 hyperphosphatemia skos:exactMatch HP:0002905 Hyperphosphatemia semapv:ManualMappingCuration 2024-02-18 MONDO:0000351 disorder of methionine catabolism skos:exactMatch HP:0003235 Hypermethioninemia semapv:ManualMappingCuration 2023-03-17 MONDO:0000387 hypochromic microcytic anemia skos:exactMatch HP:0004840 Hypochromic microcytic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch HP:0006557 Polycystic liver disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000465 atrioventricular block skos:exactMatch HP:0001678 Atrioventricular block semapv:ManualMappingCuration 2023-03-17 MONDO:0000541 jejunal adenocarcinoma skos:exactMatch HP:0030411 Jejunal adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000685 visual agnosia skos:exactMatch HP:0030222 Visual agnosia semapv:ManualMappingCuration 2024-04-21 MONDO:0000728 ptosis skos:exactMatch HP:0000508 Ptosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000733 cornea plana skos:exactMatch HP:0007720 Flat cornea semapv:ManualMappingCuration 2023-03-17 MONDO:0000866 hereditary myoglobinuria skos:exactMatch HP:0002913 Myoglobinuria semapv:ManualMappingCuration 2023-03-17 MONDO:0000945 venous insufficiency skos:exactMatch HP:0005293 Venous insufficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0000980 aortic atherosclerosis skos:exactMatch HP:0012397 Aortic atherosclerotic lesion semapv:ManualMappingCuration 2024-04-21 MONDO:0001020 amblyopia skos:exactMatch HP:0000646 Amblyopia semapv:ManualMappingCuration 2023-03-17 MONDO:0001045 intestinal atresia skos:exactMatch HP:0011100 Intestinal atresia semapv:ManualMappingCuration 2023-03-17 MONDO:0001147 meningocele skos:exactMatch HP:0002435 Meningocele semapv:ManualMappingCuration 2023-03-17 MONDO:0001149 microcephaly skos:exactMatch HP:0000252 Microcephaly semapv:ManualMappingCuration 2023-03-17 MONDO:0001245 microcytic anemia skos:exactMatch HP:0001935 Microcytic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch HP:0100026 Arteriovenous malformation semapv:ManualMappingCuration 2023-03-17 MONDO:0001280 choroiditis skos:exactMatch HP:0012123 Posterior uveitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001314 chondrocalcinosis skos:exactMatch HP:0000934 Chondrocalcinosis semapv:ManualMappingCuration 2023-03-17 MONDO:0001342 dysgammaglobulinemia skos:exactMatch HP:0002961 Dysgammaglobulinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001357 hypochromic anemia skos:exactMatch HP:0001931 Hypochromic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001370 pericardial effusion skos:exactMatch HP:0001698 Pericardial effusion semapv:ManualMappingCuration 2023-03-17 MONDO:0001409 esophagitis skos:exactMatch HP:0100633 Esophagitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001414 osteopoikilosis skos:exactMatch HP:0010739 Osteopoikilosis semapv:ManualMappingCuration 2023-03-17 MONDO:0001475 neutropenia skos:exactMatch HP:0001875 Neutropenia semapv:ManualMappingCuration 2023-03-17 MONDO:0001519 entropion skos:exactMatch HP:0000621 Entropion semapv:ManualMappingCuration 2023-03-17 MONDO:0001566 hypercalcemia disease skos:exactMatch HP:0003072 Hypercalcemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001627 dementia skos:exactMatch HP:0000726 Dementia semapv:ManualMappingCuration 2023-12-24 MONDO:0001645 crescentic glomerulonephritis skos:exactMatch HP:0008653 Crescentic glomerulonephritis semapv:ManualMappingCuration 2023-11-19 MONDO:0001673 diarrheal disease skos:exactMatch HP:0002014 Diarrhea semapv:ManualMappingCuration 2023-03-17 MONDO:0001700 megaloblastic anemia skos:exactMatch HP:0001889 Megaloblastic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001718 scleritis skos:exactMatch HP:0100532 Scleritis semapv:ManualMappingCuration 2023-03-17 MONDO:0001780 premature ejaculation skos:exactMatch HP:0012876 Premature ejaculation semapv:ManualMappingCuration 2023-03-17 MONDO:0001822 hypolipoproteinemia skos:exactMatch HP:0010981 Hypolipoproteinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001836 amenorrhea skos:exactMatch HP:0000141 Amenorrhea semapv:ManualMappingCuration 2023-11-19 MONDO:0002028 personality disorder skos:exactMatch HP:0012075 Personality disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0002043 ectropion skos:exactMatch HP:0000656 Ectropion semapv:ManualMappingCuration 2023-03-17 MONDO:0002052 lymphadenitis skos:exactMatch HP:0002840 Lymphadenitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002070 ventricular septal defect skos:exactMatch HP:0001629 Ventricular septal defect semapv:ManualMappingCuration 2023-03-17 MONDO:0002076 pneumothorax skos:exactMatch HP:0002107 Pneumothorax semapv:ManualMappingCuration 2023-03-17 MONDO:0002093 acanthoma skos:exactMatch HP:0025432 Acanthoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002102 cheilitis skos:exactMatch HP:0100825 Cheilitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002123 calcinosis skos:exactMatch HP:0003761 Calcinosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002177 hyperinsulinism skos:exactMatch HP:0000842 Hyperinsulinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0002203 constipation disorder skos:exactMatch HP:0002019 Constipation semapv:ManualMappingCuration 2023-03-17 MONDO:0002205 vulvar melanoma skos:exactMatch HP:0030418 Vulvar melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002234 vaginitis skos:exactMatch HP:0030683 Vaginitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002257 ankylosis skos:exactMatch HP:0031013 Ankylosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002277 arteriosclerosis disorder skos:exactMatch HP:0002634 Arteriosclerosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002280 anemia skos:exactMatch HP:0001903 Anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0002281 macrocytic anemia skos:exactMatch HP:0001972 Macrocytic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0002333 splenic abscess skos:exactMatch HP:0025059 Splenic abscess semapv:ManualMappingCuration 2024-04-21 MONDO:0002345 cervicitis skos:exactMatch HP:0030160 Cervicitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002443 bruxism skos:exactMatch HP:0003763 Bruxism semapv:ManualMappingCuration 2023-11-19 MONDO:0002462 glomerulonephritis skos:exactMatch HP:0000099 Glomerulonephritis semapv:ManualMappingCuration 2023-03-17 MONDO:0002465 bronchiolitis skos:exactMatch HP:0011950 Bronchiolitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002598 germinoma skos:exactMatch HP:0100620 Germinoma semapv:ManualMappingCuration 2023-08-20 MONDO:0002610 purpura skos:exactMatch HP:0000979 Purpura semapv:ManualMappingCuration 2023-03-17 MONDO:0002615 xanthomatosis skos:exactMatch HP:0000991 Xanthomatosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002697 ovarian gonadoblastoma skos:exactMatch HP:0000149 Ovarian gonadoblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002698 testicular gonadoblastoma skos:exactMatch HP:0000030 Testicular gonadoblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002735 anal canal adenocarcinoma skos:exactMatch HP:0030439 Anal canal adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003002 dysgerminoma skos:exactMatch HP:0100621 Dysgerminoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003019 potassium deficiency disease skos:exactMatch HP:0002900 Hypokalemia semapv:ManualMappingCuration 2023-03-17 MONDO:0003362 cutaneous leiomyosarcoma skos:exactMatch HP:0006755 Cutaneous leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003367 gastric leiomyosarcoma skos:exactMatch HP:0031025 Gastric leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003441 dystonic disorder skos:exactMatch HP:0001332 Dystonia semapv:ManualMappingCuration 2023-03-17 MONDO:0003783 lymphopenia skos:exactMatch HP:0001888 Lymphopenia semapv:ManualMappingCuration 2023-03-17 MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch HP:0100004 Pericardial mesothelioma semapv:ManualMappingCuration 2023-03-17 MONDO:0003865 acral lentiginous melanoma skos:exactMatch HP:0012060 Acral lentiginous melanoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004126 thyroiditis skos:exactMatch HP:0100646 Thyroiditis semapv:ManualMappingCuration 2023-03-17 MONDO:0004348 retinal telangiectasia skos:exactMatch HP:0007763 Retinal telangiectasia semapv:ManualMappingCuration 2023-03-17 MONDO:0004577 corneal ulcer skos:exactMatch HP:0200020 Corneal erosion semapv:ManualMappingCuration 2024-04-21 MONDO:0004674 chorioretinitis skos:exactMatch HP:0012424 Chorioretinitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004686 lattice corneal dystrophy skos:exactMatch HP:0001149 Lattice corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0004697 esophageal leukoplakia skos:exactMatch HP:0012859 Esophageal leukoplakia semapv:ManualMappingCuration 2023-03-17 MONDO:0004737 homocystinuria skos:exactMatch HP:0002156 Homocystinuria semapv:ManualMappingCuration 2023-03-17 MONDO:0004750 language disorder skos:exactMatch HP:0002463 Language impairment semapv:ManualMappingCuration 2023-03-17 MONDO:0004768 keratoconjunctivitis skos:exactMatch HP:0001096 Keratoconjunctivitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004773 iridocyclitis skos:exactMatch HP:0001094 Iridocyclitis semapv:ManualMappingCuration 2024-04-21 MONDO:0004830 fasciitis skos:exactMatch HP:0100537 Fasciitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004910 mitral valve prolapse skos:exactMatch HP:0001634 Mitral valve prolapse semapv:ManualMappingCuration 2023-11-19 MONDO:0004934 periostitis skos:exactMatch HP:0040165 Periostitis semapv:ManualMappingCuration 2024-04-21 MONDO:0004975 Alzheimer disease skos:exactMatch HP:0002511 Alzheimer disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004979 asthma skos:exactMatch HP:0002099 Asthma semapv:ManualMappingCuration 2023-03-17 MONDO:0004986 urinary bladder carcinoma skos:exactMatch HP:0002862 Bladder carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0005041 glaucoma skos:exactMatch HP:0000501 Glaucoma semapv:ManualMappingCuration 2023-03-17 MONDO:0005090 schizophrenia skos:exactMatch HP:0100753 Schizophrenia semapv:ManualMappingCuration 2023-03-17 MONDO:0005129 cataract skos:exactMatch HP:0000518 Cataract semapv:ManualMappingCuration 2023-03-17 MONDO:0005178 osteoarthritis skos:exactMatch HP:0002758 Osteoarthritis semapv:ManualMappingCuration 2023-03-17 MONDO:0005341 skin basal cell carcinoma skos:exactMatch HP:0002671 Basal cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0005475 migraine with aura skos:exactMatch HP:0002077 Migraine with aura semapv:ManualMappingCuration 2023-03-17 MONDO:0007145 aplasia cutis congenita skos:exactMatch HP:0001057 Aplasia cutis congenita semapv:ManualMappingCuration 2023-03-17 MONDO:0007197 bladder diverticulum skos:exactMatch HP:0000015 Bladder diverticulum semapv:ManualMappingCuration 2023-03-17 MONDO:0007354 coloboma of optic nerve skos:exactMatch HP:0000588 Optic disc coloboma semapv:ManualMappingCuration 2023-03-17 MONDO:0007705 Heinz body anemia skos:exactMatch HP:0005511 Heinz body anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0007735 congenital Horner syndrome skos:exactMatch HP:0006837 Congenital Horner syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007737 humeroradial synostosis skos:exactMatch HP:0003041 Humeroradial synostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0007756 hyperkeratosis lenticularis perstans skos:exactMatch HP:0007570 Hyperkeratosis lenticularis perstans semapv:ManualMappingCuration 2023-03-17 MONDO:0007765 hyperostosis cranialis interna skos:exactMatch HP:0005890 Hyperostosis cranialis interna semapv:ManualMappingCuration 2023-03-17 MONDO:0007915 systemic lupus erythematosus skos:exactMatch HP:0002725 Systemic lupus erythematosus semapv:ManualMappingCuration 2023-03-17 MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch HP:0005534 Transient myeloproliferative syndrome semapv:ManualMappingCuration 2023-11-19 MONDO:0008340 ptosis, hereditary congenital, 1 skos:exactMatch HP:0007970 Congenital ptosis semapv:ManualMappingCuration 2023-03-17 MONDO:0008373 retinal arterial tortuosity skos:exactMatch HP:0001136 Retinal arteriolar tortuosity semapv:ManualMappingCuration 2023-03-17 MONDO:0008504 supravalvular aortic stenosis skos:exactMatch HP:0004381 Supravalvular aortic stenosis semapv:ManualMappingCuration 2023-03-17 MONDO:0008509 distal symphalangism skos:exactMatch HP:0100263 Distal symphalangism semapv:ManualMappingCuration 2023-03-17 MONDO:0008511 proximal symphalangism skos:exactMatch HP:0100264 Proximal symphalangism semapv:ManualMappingCuration 2023-03-17 MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch HP:0002224 Woolly hair semapv:ManualMappingCuration 2023-03-17 MONDO:0008832 right atrial isomerism skos:exactMatch HP:0011536 Right atrial isomerism semapv:ManualMappingCuration 2023-03-17 MONDO:0008848 atrioventricular dissociation skos:exactMatch HP:0011709 Atrioventricular dissociation semapv:ManualMappingCuration 2023-03-17 MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch HP:0002135 Basal ganglia calcification semapv:ManualMappingCuration 2023-03-17 MONDO:0008978 chordoma skos:exactMatch HP:0010762 Chordoma semapv:ManualMappingCuration 2023-03-17 MONDO:0009058 cystathioninuria skos:exactMatch HP:0003153 Cystathioninuria semapv:ManualMappingCuration 2023-03-17 MONDO:0009067 cystinuria skos:exactMatch HP:0003131 Cystinuria semapv:ManualMappingCuration 2023-03-17 MONDO:0009126 duodenal atresia skos:exactMatch HP:0002247 Duodenal atresia semapv:ManualMappingCuration 2023-03-17 MONDO:0009374 hydroxyprolinemia skos:exactMatch HP:0003260 Hydroxyprolinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0009388 hyperlysinemia skos:exactMatch HP:0002161 Hyperlysinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0009576 megalocornea skos:exactMatch HP:0000485 Megalocornea semapv:ManualMappingCuration 2023-03-17 MONDO:0009774 cloacal exstrophy skos:exactMatch HP:0010475 Cloacal exstrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch HP:0002754 Osteomyelitis semapv:ManualMappingCuration 2024-02-18 MONDO:0009825 5-oxoprolinase deficiency skos:exactMatch HP:0040142 Reduced circulating 5-oxoprolinase activity semapv:ManualMappingCuration 2023-03-17 MONDO:0009870 pili torti skos:exactMatch HP:0003777 Pili torti semapv:ManualMappingCuration 2023-03-17 MONDO:0010029 situs inversus skos:exactMatch HP:0001696 Situs inversus totalis semapv:ManualMappingCuration 2023-03-17 MONDO:0010098 taurodontism skos:exactMatch HP:0000679 Taurodontia semapv:ManualMappingCuration 2023-03-17 MONDO:0010167 urocanic aciduria skos:exactMatch HP:0012237 Urocanic aciduria semapv:ManualMappingCuration 2023-03-17 MONDO:0010562 colonic atresia skos:exactMatch HP:0010448 Colonic atresia semapv:ManualMappingCuration 2023-03-17 MONDO:0010805 bladder exstrophy skos:exactMatch HP:0002836 Bladder exstrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0011182 trimethylaminuria skos:exactMatch HP:0003614 Trimethylaminuria semapv:ManualMappingCuration 2023-03-17 MONDO:0011414 Peters anomaly skos:exactMatch HP:0000659 Peters anomaly semapv:ManualMappingCuration 2023-03-17 MONDO:0011514 tricuspid atresia skos:exactMatch HP:0011662 Tricuspid atresia semapv:ManualMappingCuration 2023-11-19 MONDO:0011847 migraine without aura, susceptibility to, 4 skos:exactMatch HP:0002083 Migraine without aura semapv:ManualMappingCuration 2023-03-17 MONDO:0011927 tufted angioma skos:exactMatch HP:0012329 Tufted angioma semapv:ManualMappingCuration 2023-03-17 MONDO:0013577 Lipedema skos:exactMatch HP:0100695 Lipedema semapv:ManualMappingCuration 2023-03-17 MONDO:0015193 hydrops fetalis skos:exactMatch HP:0001789 Hydrops fetalis semapv:ManualMappingCuration 2023-03-17 MONDO:0015195 atresia of urethra skos:exactMatch HP:0000068 Urethral atresia semapv:ManualMappingCuration 2023-03-17 MONDO:0015249 mitral atresia disorder skos:exactMatch HP:0011560 Mitral atresia semapv:ManualMappingCuration 2023-11-19 MONDO:0015277 medullary thyroid gland carcinoma skos:exactMatch HP:0002865 Medullary thyroid carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0015279 chronic mucocutaneous candidiasis skos:exactMatch HP:0002728 Chronic mucocutaneous candidiasis semapv:ManualMappingCuration 2023-03-17 MONDO:0015486 keratoconus skos:exactMatch HP:0000563 Keratoconus semapv:ManualMappingCuration 2023-03-17 MONDO:0015686 primary peritoneal carcinoma skos:exactMatch HP:0030406 Primary peritoneal carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0015827 distal renal tubular acidosis skos:exactMatch HP:0008341 Distal renal tubular acidosis semapv:ManualMappingCuration 2023-03-17 MONDO:0015974 severe combined immunodeficiency skos:exactMatch HP:0004430 Severe combined immunodeficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0016122 periodic paralysis skos:exactMatch HP:0003768 Periodic paralysis semapv:ManualMappingCuration 2023-03-17 MONDO:0016344 hydranencephaly skos:exactMatch HP:0002324 Hydranencephaly semapv:ManualMappingCuration 2023-03-17 MONDO:0016483 intracranial berry aneurysm skos:exactMatch HP:0007029 Cerebral berry aneurysm semapv:ManualMappingCuration 2023-03-17 MONDO:0016523 bronchogenic cyst skos:exactMatch HP:0100730 Bronchogenic cyst semapv:ManualMappingCuration 2023-11-19 MONDO:0016535 hypohidrotic ectodermal dysplasia skos:exactMatch HP:0007607 Hypohidrotic ectodermal dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0016608 megalencephaly skos:exactMatch HP:0001355 Megalencephaly semapv:ManualMappingCuration 2023-03-17 MONDO:0016642 meningioma skos:exactMatch HP:0002858 Meningioma semapv:ManualMappingCuration 2023-03-17 MONDO:0016648 multiple epiphyseal dysplasia skos:exactMatch HP:0002654 Multiple epiphyseal dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0017078 cephalocele skos:exactMatch HP:0011815 Cephalocele semapv:ManualMappingCuration 2023-03-17 MONDO:0017178 osteochondritis dissecans skos:exactMatch HP:0010886 Osteochondritis dissecans semapv:ManualMappingCuration 2023-03-17 MONDO:0017181 hypnic headache skos:exactMatch HP:0012459 Hypnic headache semapv:ManualMappingCuration 2023-03-17 MONDO:0017198 osteopetrosis skos:exactMatch HP:0011002 Osteopetrosis semapv:ManualMappingCuration 2023-03-17 MONDO:0017285 penoscrotal transposition skos:exactMatch HP:0100600 Penoscrotal transposition semapv:ManualMappingCuration 2023-11-19 MONDO:0017304 ocular albinism skos:exactMatch HP:0001107 Ocular albinism semapv:ManualMappingCuration 2023-03-17 MONDO:0017340 juvenile nasopharyngeal angiofibroma skos:exactMatch HP:0030429 Juvenile nasopharyngeal angiofibroma semapv:ManualMappingCuration 2023-11-19 MONDO:0017410 porencephaly skos:exactMatch HP:0002132 Porencephalic cyst semapv:ManualMappingCuration 2023-03-17 MONDO:0017419 non-syndromic amelia skos:exactMatch HP:0009827 Amelia semapv:ManualMappingCuration 2023-03-17 MONDO:0017437 amelia of upper limb skos:exactMatch HP:0009812 Amelia involving the upper limbs semapv:ManualMappingCuration 2023-03-17 MONDO:0017438 amelia of lower limb skos:exactMatch HP:0009818 Amelia involving the lower limbs semapv:ManualMappingCuration 2023-03-17 MONDO:0017439 tetra-amelia skos:exactMatch HP:0003057 Tetraamelia semapv:ManualMappingCuration 2023-03-17 MONDO:0017449 split hand skos:exactMatch HP:0001171 Split hand semapv:ManualMappingCuration 2023-03-17 MONDO:0017450 split foot skos:exactMatch HP:0001839 Split foot semapv:ManualMappingCuration 2023-03-17 MONDO:0017470 congenital knee dislocation skos:exactMatch HP:0005191 Congenital knee dislocation semapv:ManualMappingCuration 2023-03-17 MONDO:0017474 macrodactyly of fingers skos:exactMatch HP:0100746 Macrodactyly of finger semapv:ManualMappingCuration 2023-03-17 MONDO:0017475 macrodactyly of toes skos:exactMatch HP:0100747 Macrodactyly of toe semapv:ManualMappingCuration 2023-03-17 MONDO:0017582 pituitary adenocarcinoma skos:exactMatch HP:0011763 Pituitary carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0017666 diffuse palmoplantar keratoderma skos:exactMatch HP:0007435 obsolete Diffuse palmoplantar keratoderma semapv:ManualMappingCuration 2023-03-17 MONDO:0017939 classic multiminicore myopathy skos:exactMatch HP:0003789 Minicore myopathy semapv:ManualMappingCuration 2023-12-24 MONDO:0017985 congenital radioulnar synostosis skos:exactMatch HP:0002974 Radioulnar synostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0018102 corneal dystrophy skos:exactMatch HP:0001131 Corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0018106 hereditary xanthinuria skos:exactMatch HP:0010934 Xanthinuria semapv:ManualMappingCuration 2023-03-17 MONDO:0018178 intestinal lymphangiectasia skos:exactMatch HP:0002593 Intestinal lymphangiectasia semapv:ManualMappingCuration 2023-03-17 MONDO:0018242 autoimmune hypoparathyroidism skos:exactMatch HP:0011771 Autoimmune hypoparathyroidism semapv:ManualMappingCuration 2023-03-17 MONDO:0018470 renal agenesis skos:exactMatch HP:0000104 Renal agenesis semapv:ManualMappingCuration 2023-03-17 MONDO:0018470 renal agenesis skos:exactMatch HP:0008678 Renal hypoplasia/aplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch HP:0002047 Malignant hyperthermia semapv:ManualMappingCuration 2023-03-17 MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch HP:0000044 Hypogonadotropic hypogonadism semapv:ManualMappingCuration 2023-03-17 MONDO:0018561 precocious puberty in female skos:exactMatch HP:0010465 Precocious puberty in females semapv:ManualMappingCuration 2023-03-17 MONDO:0018838 lissencephaly spectrum disorders skos:exactMatch HP:0001339 Lissencephaly semapv:ManualMappingCuration 2023-03-17 MONDO:0018844 urachal cyst skos:exactMatch HP:0012618 Urachal cyst semapv:ManualMappingCuration 2023-03-17 MONDO:0018849 dentinogenesis imperfecta skos:exactMatch HP:0000703 Dentinogenesis imperfecta semapv:ManualMappingCuration 2023-03-17 MONDO:0018911 maturity-onset diabetes of the young skos:exactMatch HP:0004904 Maturity-onset diabetes of the young semapv:ManualMappingCuration 2023-03-17 MONDO:0018943 myofibrillar myopathy skos:exactMatch HP:0003715 Myofibrillar myopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0018953 parietal foramina skos:exactMatch HP:0002697 Parietal foramina semapv:ManualMappingCuration 2023-03-17 MONDO:0018969 craniorachischisis skos:exactMatch HP:0030770 Craniorachischisis semapv:ManualMappingCuration 2023-03-17 MONDO:0019005 nephronophthisis skos:exactMatch HP:0000090 Nephronophthisis semapv:ManualMappingCuration 2023-03-17 MONDO:0019118 inherited retinal dystrophy skos:exactMatch HP:0000556 Retinal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0019269 ichthyosis skos:exactMatch HP:0008064 Ichthyosis semapv:ManualMappingCuration 2023-03-17 MONDO:0019280 hypertrichosis skos:exactMatch HP:0000998 Hypertrichosis semapv:ManualMappingCuration 2023-03-17 MONDO:0019289 hyperpigmentation of the skin skos:exactMatch HP:0000953 Hyperpigmentation of the skin semapv:ManualMappingCuration 2023-03-17 MONDO:0019290 hypopigmentation of the skin skos:exactMatch HP:0001010 Hypopigmentation of the skin semapv:ManualMappingCuration 2023-03-17 MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:exactMatch HP:0007431 Congenital ichthyosiform erythroderma semapv:ManualMappingCuration 2023-03-17 MONDO:0019629 sclerocornea skos:exactMatch HP:0000647 Sclerocornea semapv:ManualMappingCuration 2023-03-17 MONDO:0019637 renal hypoplasia skos:exactMatch HP:0000089 Renal hypoplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0019638 renal dysplasia skos:exactMatch HP:0000110 Renal dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0019644 renal dysplasia, unilateral skos:exactMatch HP:0008718 Unilateral renal dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0019645 renal dysplasia, bilateral skos:exactMatch HP:0012582 Bilateral renal dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0019665 monostotic fibrous dysplasia skos:exactMatch HP:0010736 Monostotic fibrous dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0019673 postaxial polydactyly type A skos:exactMatch HP:0005696 Postaxial polydactyly type A semapv:ManualMappingCuration 2023-03-17 MONDO:0019759 epispadias skos:exactMatch HP:0000039 Epispadias semapv:ManualMappingCuration 2023-03-17 MONDO:0019773 myelomeningocele skos:exactMatch HP:0002475 Myelomeningocele semapv:ManualMappingCuration 2023-03-17 MONDO:0019804 tracheomalacia skos:exactMatch HP:0002779 Tracheomalacia semapv:ManualMappingCuration 2023-03-17 MONDO:0019808 aortic valve atresia skos:exactMatch HP:0010883 Aortic valve atresia semapv:ManualMappingCuration 2023-11-19 MONDO:0020246 inherited vitreoretinopathy skos:exactMatch HP:0007773 Vitreoretinopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0020248 vitreoretinal degeneration skos:exactMatch HP:0007964 Degenerative vitreoretinopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0020289 congenital tricuspid malformation skos:exactMatch HP:0001702 Abnormal tricuspid valve morphology semapv:ManualMappingCuration 2023-03-17 MONDO:0020356 coloboma of iris skos:exactMatch HP:0000612 Iris coloboma semapv:ManualMappingCuration 2023-03-17 MONDO:0020398 congenital mitral stenosis skos:exactMatch HP:0011570 Congenital mitral stenosis semapv:ManualMappingCuration 2023-03-17 MONDO:0020417 right aortic arch skos:exactMatch HP:0012020 Right aortic arch semapv:ManualMappingCuration 2023-11-19 MONDO:0020429 cor triatriatum dexter skos:exactMatch HP:0011566 Cor triatriatum dexter semapv:ManualMappingCuration 2023-11-19 MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch HP:0008255 Transient neonatal diabetes mellitus semapv:ManualMappingCuration 2023-03-17 MONDO:0020575 polymorphic ventricular tachycardia skos:exactMatch HP:0031677 Polymorphic ventricular tachycardia semapv:ManualMappingCuration 2023-03-17 MONDO:0021002 syndactyly skos:exactMatch HP:0001159 Syndactyly semapv:ManualMappingCuration 2023-03-17 MONDO:0021003 polydactyly skos:exactMatch HP:0010442 Polydactyly semapv:ManualMappingCuration 2023-03-17 MONDO:0021004 brachydactyly skos:exactMatch HP:0001156 Brachydactyly semapv:ManualMappingCuration 2023-03-17 MONDO:0021187 hyperlipidemia skos:exactMatch HP:0003077 Hyperlipidemia semapv:ManualMappingCuration 2023-03-17 MONDO:0021642 vulval varices skos:exactMatch HP:0100677 Vulval varicose vein semapv:ManualMappingCuration 2024-04-21 MONDO:0021718 polyneuritis skos:exactMatch HP:0031003 Polyneuritis semapv:ManualMappingCuration 2023-03-17 MONDO:0024276 glandular cell neoplasm skos:exactMatch HP:0031493 Glandular cell neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0024677 pancreatic insulinoma skos:exactMatch HP:0012197 Insulinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0027766 generalized lipodystrophy skos:exactMatch HP:0009064 Generalized lipodystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0037748 hyperlipoproteinemia skos:exactMatch HP:0010980 Hyperlipoproteinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0042981 aortic valve stenosis skos:exactMatch HP:0001650 Aortic valve stenosis semapv:ManualMappingCuration 2023-03-17 MONDO:0044782 esophageal ulcer skos:exactMatch HP:0004791 Esophageal ulceration semapv:ManualMappingCuration 2023-03-17 MONDO:0045050 nuclear cataract skos:exactMatch HP:0100018 Nuclear cataract semapv:ManualMappingCuration 2023-03-17 MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:exactMatch HP:0004818 Paroxysmal nocturnal hemoglobinuria semapv:ManualMappingCuration 2023-03-17 MONDO:0800064 osteogenesis imperfecta and a reduction of bone mineral density. skos:exactMatch HP:0004349 Reduced bone mineral density semapv:ManualMappingCuration 2023-03-17 MONDO:0810000 choroidal neovascularization skos:exactMatch HP:0011506 Choroidal neovascularization semapv:ManualMappingCuration 2023-11-19 Orphanet:46724 Cerebral arteriovenous malformation skos:exactMatch HP:0002408 Cerebral arteriovenous malformation semapv:ManualMappingCuration 2023-03-17