#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_rdo_rgd.sssom.tsv.txt #mapping_set_title: All mappings of EFO terms to RDO terms generated by RGD (draft version) #mapping_set_description: All mappings of EFO terms to RDO terms generated by RGD (draft version) #license: https://creativecommons.org/licenses/by/4.0/ #object_source: obo:EFO #subject_source: obo:RDO #curie_map: # EFO: http://purl.obolibrary.org/obo/EFO_ # RDO: http://purl.obolibrary.org/obo/RDO_ # 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 DOID:0080630 B-lymphoblastic leukemia/lymphoma semapv:ManualMappingCuration 2022-07-21 EFO:0000094 B-cell acute lymphoblastic leukemia skos:exactMatch DOID:0080638 B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration 2023-12-04 EFO:0000095 chronic lymphocytic leukemia skos:exactMatch DOID:1040 chronic lymphocytic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0000096 neoplasm of mature B-cells skos:exactMatch DOID:706 mature B-cell neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0000174 Ewing sarcoma skos:exactMatch DOID:3369 Ewing sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000178 gastric carcinoma skos:exactMatch DOID:10538 gastric fundus cancer semapv:ManualMappingCuration 2022-01-24 EFO:0000178 gastric carcinoma skos:exactMatch DOID:5517 stomach carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000180 HIV-1 infection skos:exactMatch DOID:526 human immunodeficiency virus infectious disease semapv:ManualMappingCuration 2023-12-04 EFO:0000181 head and neck squamous cell carcinoma skos:exactMatch DOID:5520 head and neck squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000182 hepatocellular carcinoma skos:exactMatch DOID:684 hepatocellular carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000182 hepatocellular carcinoma skos:exactMatch DOID:686 liver carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000183 Hodgkins lymphoma skos:exactMatch DOID:8567 Hodgkin's lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:0000186 invasive breast ductal carcinoma skos:exactMatch DOID:3008 invasive ductal carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000191 MALT lymphoma skos:exactMatch DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue semapv:ManualMappingCuration 2022-01-24 EFO:0000195 metabolic syndrome skos:exactMatch DOID:14221 abdominal obesity-metabolic syndrome 1 semapv:ManualMappingCuration 2022-01-24 EFO:0000195 metabolic syndrome skos:exactMatch DOID:9006646 Metabolic Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0000196 metastatic prostate cancer skos:exactMatch DOID:10283 prostate cancer semapv:ManualMappingCuration 2023-12-04 EFO:0000197 mucinous carcinoma skos:exactMatch DOID:3030 mucinous adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000198 myelodysplastic syndrome skos:exactMatch DOID:0050908 myelodysplastic syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0000199 oral squamous cell carcinoma skos:exactMatch DOID:0050866 oral squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000200 plasma cell neoplasm skos:exactMatch DOID:6536 plasma cell neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0000203 monoclonal gammopathy skos:exactMatch DOID:7442 monoclonal gammopathy of uncertain significance semapv:ManualMappingCuration 2022-01-24 EFO:0000205 stage I endometrioid carcinoma skos:exactMatch DOID:9004265 Endometrioid Carcinomas semapv:ManualMappingCuration 2023-12-04 EFO:0000206 stage II endometrioid carcinoma skos:exactMatch DOID:9004265 Endometrioid Carcinomas semapv:ManualMappingCuration 2023-12-04 EFO:0000209 T-cell acute lymphoblastic leukemia skos:exactMatch DOID:5603 T-cell acute lymphoblastic leukemia semapv:ManualMappingCuration 2023-03-06 EFO:0000211 unspecified peripheral T-cell lymphoma skos:exactMatch DOID:0050749 peripheral T-cell lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:0000216 acinar cell carcinoma skos:exactMatch DOID:3025 acinar cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000217 gastritis skos:exactMatch DOID:4029 gastritis semapv:ManualMappingCuration 2022-01-24 EFO:0000218 acute erythroleukemia skos:exactMatch DOID:0080780 acute erythroid leukemia semapv:ManualMappingCuration 2023-03-17 EFO:0000218 acute erythroleukemia skos:exactMatch DOID:9000647 Acute Erythroleukemia semapv:ManualMappingCuration 2023-12-04 EFO:0000220 acute lymphoblastic leukemia skos:exactMatch DOID:1037 lymphoid leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0000220 acute lymphoblastic leukemia skos:exactMatch DOID:9952 acute lymphoblastic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0000221 acute monocytic leukemia skos:exactMatch DOID:8864 acute monocytic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0000222 acute myeloid leukemia skos:exactMatch DOID:9119 acute myeloid leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0000223 acute myelomonocytic leukemia skos:exactMatch DOID:0081082 acute myelomonocytic leukemia semapv:ManualMappingCuration 2023-04-17 EFO:0000224 acute promyelocytic leukemia skos:exactMatch DOID:0060318 acute promyelocytic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0000224 acute promyelocytic leukemia skos:exactMatch DOID:0081081 acute promyelocytic leukemia with PML-RARA semapv:ManualMappingCuration 2023-04-17 EFO:0000225 acute quadriplegic myopathy skos:exactMatch DOID:423 myopathy semapv:ManualMappingCuration 2023-12-04 EFO:0000228 adenocarcinoma skos:exactMatch DOID:299 adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000231 adenoid cystic carcinoma skos:exactMatch DOID:0080202 adenoid cystic carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000232 adenoma skos:exactMatch DOID:657 adenoma semapv:ManualMappingCuration 2022-01-24 EFO:0000233 adenosquamous lung carcinoma skos:exactMatch DOID:4829 adenosquamous lung carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000239 adrenal gland pheochromocytoma skos:exactMatch DOID:0050892 adrenal gland pheochromocytoma semapv:ManualMappingCuration 2022-01-24 EFO:0000248 alveolar rhabdomyosarcoma skos:exactMatch DOID:4051 alveolar rhabdomyosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000255 angioimmunoblastic T-cell lymphoma skos:exactMatch DOID:0111147 angioimmunoblastic T-cell lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:0000266 aortic stenosis skos:exactMatch DOID:1712 aortic valve stenosis semapv:ManualMappingCuration 2022-01-24 EFO:0000272 astrocytoma skos:exactMatch DOID:3069 malignant astrocytoma semapv:ManualMappingCuration 2022-01-24 EFO:0000274 atopic eczema skos:exactMatch DOID:3310 atopic dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:0000275 atrial fibrillation skos:exactMatch DOID:0060224 atrial fibrillation semapv:ManualMappingCuration 2022-01-24 EFO:0000278 pancreatitis skos:exactMatch DOID:4989 pancreatitis semapv:ManualMappingCuration 2022-01-24 EFO:0000279 azoospermia skos:exactMatch DOID:0111910 spermatogenic failure semapv:ManualMappingCuration 2022-07-21 EFO:0000279 azoospermia skos:exactMatch DOID:14227 azoospermia semapv:ManualMappingCuration 2022-01-24 EFO:0000280 Barrett's esophagus skos:exactMatch DOID:9206 Barrett's esophagus semapv:ManualMappingCuration 2022-01-24 EFO:0000281 basal-like breast carcinoma skos:exactMatch DOID:3458 breast adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0000284 benign prostatic hyperplasia skos:exactMatch DOID:11132 prostatic hypertrophy semapv:ManualMappingCuration 2022-01-24 EFO:0000284 benign prostatic hyperplasia skos:exactMatch DOID:2883 prostatic adenoma semapv:ManualMappingCuration 2022-01-24 EFO:0000294 bladder tumor skos:exactMatch DOID:9009116 Urinary Bladder Neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:0000304 breast adenocarcinoma skos:exactMatch DOID:3458 breast adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000305 breast carcinoma skos:exactMatch DOID:3459 breast carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000306 breast tumor luminal skos:exactMatch DOID:0060548 luminal breast carcinoma A semapv:ManualMappingCuration 2022-01-24 EFO:0000308 bronchoalveolar adenocarcinoma skos:exactMatch DOID:4926 bronchiolo-alveolar adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000309 Burkitts lymphoma skos:exactMatch DOID:8584 Burkitt lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:0000313 carcinoma skos:exactMatch DOID:305 carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000318 cardiomyopathy skos:exactMatch DOID:0050700 cardiomyopathy semapv:ManualMappingCuration 2022-01-24 EFO:0000319 cardiovascular disease skos:exactMatch DOID:1287 cardiovascular system disease semapv:ManualMappingCuration 2022-01-24 EFO:0000326 central nervous system cancer skos:exactMatch DOID:3620 central nervous system cancer semapv:ManualMappingCuration 2022-01-24 EFO:0000330 childhood acute myeloid leukemia skos:exactMatch DOID:0070323 childhood acute myeloid leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0000331 chondroblastoma skos:exactMatch DOID:2649 chondroblastoma semapv:ManualMappingCuration 2022-01-24 EFO:0000332 chondromyxoid fibroma skos:exactMatch DOID:9001119 chondromyxoid fibroma semapv:ManualMappingCuration 2023-12-04 EFO:0000333 chondrosarcoma skos:exactMatch DOID:3371 chondrosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000335 chromophobe renal cell carcinoma skos:exactMatch DOID:4471 chromophobe renal cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000336 chromosomal aberration skos:exactMatch DOID:9004814 Chromosome Aberrations semapv:ManualMappingCuration 2023-12-04 EFO:0000337 chronic gastritis skos:exactMatch DOID:4029 gastritis semapv:ManualMappingCuration 2022-01-24 EFO:0000339 chronic myelogenous leukemia skos:exactMatch DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive semapv:ManualMappingCuration 2023-03-17 EFO:0000339 chronic myelogenous leukemia skos:exactMatch DOID:8552 chronic myeloid leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0000341 chronic obstructive pulmonary disease skos:exactMatch DOID:3083 chronic obstructive pulmonary disease semapv:ManualMappingCuration 2022-01-24 EFO:0000342 chronic pancreatitis skos:exactMatch DOID:9006190 Chronic Pancreatitis semapv:ManualMappingCuration 2023-12-04 EFO:0000348 clear cell adenocarcinoma skos:exactMatch DOID:4468 clear cell adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000349 clear cell renal carcinoma skos:exactMatch DOID:4467 clear cell renal cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000350 clear cell sarcoma of the kidney skos:exactMatch DOID:4880 kidney clear cell sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000364 colon mucinous adenocarcinoma skos:exactMatch DOID:3029 colon mucinous adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000365 colorectal adenocarcinoma skos:exactMatch DOID:0050861 colorectal adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000365 colorectal adenocarcinoma skos:exactMatch DOID:0050913 large intestine adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000373 congestive heart failure skos:exactMatch DOID:6000 congestive heart failure semapv:ManualMappingCuration 2022-01-24 EFO:0000384 Crohn's disease skos:exactMatch DOID:8778 Crohn's disease semapv:ManualMappingCuration 2022-01-24 EFO:0000389 cutaneous melanoma skos:exactMatch DOID:8923 skin melanoma semapv:ManualMappingCuration 2022-01-24 EFO:0000394 dedifferentiated chondrosarcoma skos:exactMatch DOID:0081247 dedifferentiated chondrosarcoma semapv:ManualMappingCuration 2023-03-17 EFO:0000397 dermal neurofibroma skos:exactMatch DOID:962 neurofibroma semapv:ManualMappingCuration 2023-12-04 EFO:0000398 dermatomyositis skos:exactMatch DOID:10223 dermatomyositis semapv:ManualMappingCuration 2022-01-24 EFO:0000400 diabetes mellitus skos:exactMatch DOID:9351 diabetes mellitus semapv:ManualMappingCuration 2022-01-24 EFO:0000401 diabetic nephropathy skos:exactMatch DOID:9002165 Diabetic Nephropathies semapv:ManualMappingCuration 2023-12-04 EFO:0000402 diffuse gastric adenocarcinoma skos:exactMatch DOID:6217 gastric diffuse adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000403 diffuse large B-cell lymphoma skos:exactMatch DOID:0050745 diffuse large B-cell lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:0000404 diffuse scleroderma skos:exactMatch DOID:1580 diffuse scleroderma semapv:ManualMappingCuration 2022-01-24 EFO:0000405 digestive system disease skos:exactMatch DOID:5295 intestinal disease semapv:ManualMappingCuration 2022-01-24 EFO:0000405 digestive system disease skos:exactMatch DOID:77 gastrointestinal system disease semapv:ManualMappingCuration 2022-01-24 EFO:0000407 dilated cardiomyopathy skos:exactMatch DOID:12930 dilated cardiomyopathy semapv:ManualMappingCuration 2022-01-24 EFO:0000408 disease skos:exactMatch DOID:4 disease semapv:ManualMappingCuration 2022-01-24 EFO:0000432 breast ductal carcinoma in situ skos:exactMatch DOID:0060074 ductal carcinoma in situ semapv:ManualMappingCuration 2022-01-24 EFO:0000437 embryonal rhabdomyosarcoma skos:exactMatch DOID:3246 embryonal rhabdomyosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000464 emphysema skos:exactMatch DOID:9675 pulmonary emphysema semapv:ManualMappingCuration 2022-01-24 EFO:0000465 endocarditis skos:exactMatch DOID:10314 endocarditis semapv:ManualMappingCuration 2022-01-24 EFO:0000466 endometrioid carcinoma skos:exactMatch DOID:9004265 Endometrioid Carcinomas semapv:ManualMappingCuration 2023-12-04 EFO:0000474 epilepsy skos:exactMatch DOID:1826 epilepsy semapv:ManualMappingCuration 2022-01-24 EFO:0000478 esophageal adenocarcinoma skos:exactMatch DOID:4914 esophagus adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000479 essential thrombocythemia skos:exactMatch DOID:2224 essential thrombocythemia semapv:ManualMappingCuration 2022-01-24 EFO:0000489 extra-adrenal sympathetic paraganglioma skos:exactMatch DOID:0050773 paraganglioma semapv:ManualMappingCuration 2023-12-04 EFO:0000489 extra-adrenal sympathetic paraganglioma skos:exactMatch DOID:0050936 extra-adrenal pheochromocytoma semapv:ManualMappingCuration 2022-01-24 EFO:0000495 fetal growth restriction skos:exactMatch DOID:9002231 Fetal Growth Retardation semapv:ManualMappingCuration 2023-12-04 EFO:0000497 fibromatosis skos:exactMatch DOID:0050871 fibroma semapv:ManualMappingCuration 2023-12-04 EFO:0000499 follicular thyroid adenoma skos:exactMatch DOID:2891 thyroid adenoma semapv:ManualMappingCuration 2023-03-06 EFO:0000499 follicular thyroid adenoma skos:exactMatch DOID:6204 follicular adenoma semapv:ManualMappingCuration 2022-01-24 EFO:0000500 ganglioneuroma skos:exactMatch DOID:4817 ganglioneuroma semapv:ManualMappingCuration 2022-01-24 EFO:0000501 follicular thyroid carcinoma skos:exactMatch DOID:3962 follicular thyroid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000502 ganglioneuroblastoma skos:exactMatch DOID:4163 ganglioneuroblastoma semapv:ManualMappingCuration 2022-01-24 EFO:0000503 gastric adenocarcinoma skos:exactMatch DOID:3717 gastric adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000504 gastric intestinal type adenocarcinoma skos:exactMatch DOID:3717 gastric adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0000508 genetic disorder skos:exactMatch DOID:630 genetic disease semapv:ManualMappingCuration 2022-01-24 EFO:0000512 reproductive system disease skos:exactMatch DOID:15 reproductive system disease semapv:ManualMappingCuration 2022-01-24 EFO:0000514 germ cell tumor skos:exactMatch DOID:2994 germ cell cancer semapv:ManualMappingCuration 2022-01-24 EFO:0000514 germ cell tumor skos:exactMatch DOID:9005127 germ cell tumor semapv:ManualMappingCuration 2023-12-04 EFO:0000514 germ cell tumor skos:exactMatch DOID:9005959 Gonadal Tissue Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0000519 glioblastoma multiforme skos:exactMatch DOID:3068 glioblastoma semapv:ManualMappingCuration 2022-01-24 EFO:0000524 head and neck disorder skos:exactMatch DOID:7 disease of anatomical entity semapv:ManualMappingCuration 2023-12-04 EFO:0000536 hyperplasia skos:exactMatch DOID:9002221 Hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:0000537 hypertension skos:exactMatch DOID:10763 hypertension semapv:ManualMappingCuration 2022-01-24 EFO:0000538 hypertrophic cardiomyopathy skos:exactMatch DOID:11984 hypertrophic cardiomyopathy semapv:ManualMappingCuration 2022-01-24 EFO:0000540 immune system disease skos:exactMatch DOID:2914 immune system disease semapv:ManualMappingCuration 2022-01-24 EFO:0000544 infection skos:exactMatch DOID:0050117 disease by infectious agent semapv:ManualMappingCuration 2023-12-04 EFO:0000545 infertility skos:exactMatch DOID:5223 infertility semapv:ManualMappingCuration 2022-01-24 EFO:0000546 injury skos:exactMatch DOID:9001600 Wounds and Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0000549 insulinoma skos:exactMatch DOID:3892 insulinoma semapv:ManualMappingCuration 2023-12-04 EFO:0000551 intracranial hemorrhage skos:exactMatch DOID:9003104 Intracranial Hemorrhages semapv:ManualMappingCuration 2023-12-04 EFO:0000552 invasive breast ductal and lobular carcinoma skos:exactMatch DOID:3008 invasive ductal carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0000553 invasive lobular carcinoma skos:exactMatch DOID:3457 invasive lobular carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000555 irritable bowel syndrome skos:exactMatch DOID:9778 irritable bowel syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0000556 ischemia skos:exactMatch DOID:326 ischemia semapv:ManualMappingCuration 2022-01-24 EFO:0000557 juvenile dermatomyositis skos:exactMatch DOID:14203 childhood type dermatomyositis semapv:ManualMappingCuration 2022-01-24 EFO:0000558 Kaposi's sarcoma skos:exactMatch DOID:8632 Kaposi's sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000559 keratinizing squamous cell carcinoma skos:exactMatch DOID:5521 keratinizing squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000563 large cell neuroendocrine carcinoma skos:exactMatch DOID:0050872 large cell neuroendocrine carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000564 leiomyosarcoma skos:exactMatch DOID:1967 leiomyosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000565 leukemia skos:exactMatch DOID:1240 leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0000569 liposarcoma skos:exactMatch DOID:3382 liposarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000571 lung adenocarcinoma skos:exactMatch DOID:3910 lung adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000574 lymphoma skos:exactMatch DOID:0060058 lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:0000580 medullary breast carcinoma skos:exactMatch DOID:5605 breast medullary carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000584 infectious meningitis skos:exactMatch DOID:9471 meningitis semapv:ManualMappingCuration 2022-01-24 EFO:0000588 mesothelioma skos:exactMatch DOID:9003566 Mesothelioma semapv:ManualMappingCuration 2023-12-04 EFO:0000589 metabolic disease skos:exactMatch DOID:0014667 disease of metabolism semapv:ManualMappingCuration 2022-01-24 EFO:0000595 monophasic synovial sarcoma skos:exactMatch DOID:5495 monophasic synovial sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000612 myocardial infarction skos:exactMatch DOID:5844 myocardial infarction semapv:ManualMappingCuration 2022-01-24 EFO:0000613 myxoid liposarcoma skos:exactMatch DOID:5363 myxoid liposarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000613 myxoid liposarcoma skos:exactMatch DOID:5709 mixed-type liposarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000616 neoplasm skos:exactMatch DOID:14566 disease of cellular proliferation semapv:ManualMappingCuration 2022-01-24 EFO:0000618 nervous system disease skos:exactMatch DOID:863 nervous system disease semapv:ManualMappingCuration 2022-01-24 EFO:0000621 neuroblastoma skos:exactMatch DOID:769 neuroblastoma semapv:ManualMappingCuration 2022-01-24 EFO:0000622 neurofibroma skos:exactMatch DOID:962 neurofibroma semapv:ManualMappingCuration 2022-01-24 EFO:0000625 nevus skos:exactMatch DOID:9002969 Nevus semapv:ManualMappingCuration 2023-12-04 EFO:0000630 oligoastrocytoma skos:exactMatch DOID:7912 mixed oligodendroglioma-astrocytoma semapv:ManualMappingCuration 2022-01-24 EFO:0000632 oligodendroglioma skos:exactMatch DOID:3181 oligodendroglioma semapv:ManualMappingCuration 2022-01-24 EFO:0000637 osteosarcoma skos:exactMatch DOID:3347 osteosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000639 papillary cystadenocarcinoma skos:exactMatch DOID:3110 papillary cystadenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000640 papillary renal cell carcinoma skos:exactMatch DOID:4465 papillary renal cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000641 papillary thyroid carcinoma skos:exactMatch DOID:3969 papillary thyroid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000649 periodontitis skos:exactMatch DOID:824 periodontitis semapv:ManualMappingCuration 2022-01-24 EFO:0000649 periodontitis skos:exactMatch DOID:9893 periodontosis semapv:ManualMappingCuration 2022-01-24 EFO:0000650 whooping cough skos:exactMatch DOID:1116 pertussis semapv:ManualMappingCuration 2022-01-24 EFO:0000653 phyllodes tumor skos:exactMatch DOID:9004240 Phyllodes Tumor semapv:ManualMappingCuration 2023-12-04 EFO:0000658 plexiform neurofibroma skos:exactMatch DOID:5151 plexiform neurofibroma semapv:ManualMappingCuration 2022-01-24 EFO:0000660 polycystic ovary syndrome skos:exactMatch DOID:11612 polycystic ovary syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0000662 polyp skos:exactMatch DOID:9003896 Polyps semapv:ManualMappingCuration 2023-12-04 EFO:0000666 portal hypertension skos:exactMatch DOID:10762 portal hypertension semapv:ManualMappingCuration 2022-01-24 EFO:0000668 preeclampsia skos:exactMatch DOID:10591 pre-eclampsia semapv:ManualMappingCuration 2022-01-24 EFO:0000673 prostate adenocarcinoma skos:exactMatch DOID:2526 prostate adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000676 psoriasis skos:exactMatch DOID:8893 psoriasis semapv:ManualMappingCuration 2022-01-24 EFO:0000677 mental or behavioural disorder skos:exactMatch DOID:150 disease of mental health semapv:ManualMappingCuration 2022-01-24 EFO:0000677 mental or behavioural disorder skos:exactMatch DOID:2468 psychotic disorder semapv:ManualMappingCuration 2022-01-24 EFO:0000678 pterygium skos:exactMatch DOID:0002116 pterygium semapv:ManualMappingCuration 2022-01-24 EFO:0000681 renal cell carcinoma skos:exactMatch DOID:4450 renal cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000684 respiratory system disease skos:exactMatch DOID:1579 respiratory system disease semapv:ManualMappingCuration 2022-01-24 EFO:0000685 rheumatoid arthritis skos:exactMatch DOID:7148 rheumatoid arthritis semapv:ManualMappingCuration 2022-01-24 EFO:0000691 sarcoma skos:exactMatch DOID:1115 sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0000693 schwannoma skos:exactMatch DOID:12689 acoustic neuroma semapv:ManualMappingCuration 2022-01-24 EFO:0000693 schwannoma skos:exactMatch DOID:3192 neurilemmoma semapv:ManualMappingCuration 2022-01-24 EFO:0000693 schwannoma skos:exactMatch DOID:3196 cellular schwannoma semapv:ManualMappingCuration 2022-01-24 EFO:0000693 schwannoma skos:exactMatch DOID:3206 plexiform schwannoma semapv:ManualMappingCuration 2022-01-24 EFO:0000693 schwannoma skos:exactMatch DOID:955 benign neurilemmoma semapv:ManualMappingCuration 2022-01-24 EFO:0000694 severe acute respiratory syndrome skos:exactMatch DOID:2945 severe acute respiratory syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0000698 signet ring cell carcinoma skos:exactMatch DOID:3493 signet ring cell adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000699 Sjogren syndrome skos:exactMatch DOID:12894 Sjogren's syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0000699 Sjogren syndrome skos:exactMatch DOID:12900 Mikulicz disease semapv:ManualMappingCuration 2022-01-24 EFO:0000701 skin disease skos:exactMatch DOID:37 skin disease semapv:ManualMappingCuration 2022-01-24 EFO:0000702 small cell lung carcinoma skos:exactMatch DOID:5409 lung small cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000702 small cell lung carcinoma skos:exactMatch DOID:5411 lung oat cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000705 spindle cell tumor skos:exactMatch DOID:9005456 spindle cell neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:0000706 spondyloarthropathy skos:exactMatch DOID:1123 spondyloarthropathy semapv:ManualMappingCuration 2022-01-24 EFO:0000707 squamous cell carcinoma skos:exactMatch DOID:1749 squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000708 squamous cell lung carcinoma skos:exactMatch DOID:3907 lung squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0000712 stroke skos:exactMatch DOID:9007096 Stroke semapv:ManualMappingCuration 2023-12-04 EFO:0000713 subarachnoid hemorrhage skos:exactMatch DOID:9000438 Subarachnoid Hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0000717 systemic scleroderma skos:exactMatch DOID:418 systemic scleroderma semapv:ManualMappingCuration 2022-01-24 EFO:0000729 ulcerative colitis skos:exactMatch DOID:8577 ulcerative colitis semapv:ManualMappingCuration 2022-01-24 EFO:0000730 undifferentiated sarcoma skos:exactMatch DOID:9006050 undifferentiated sarcoma semapv:ManualMappingCuration 2023-12-04 EFO:0000731 uterine fibroid skos:exactMatch DOID:13223 uterine fibroid semapv:ManualMappingCuration 2022-01-24 EFO:0000734 vitamin B12 deficiency skos:exactMatch DOID:0050731 vitamin B12 deficiency semapv:ManualMappingCuration 2022-01-24 EFO:0000736 well-differentiated liposarcoma skos:exactMatch DOID:5690 well-differentiated liposarcoma semapv:ManualMappingCuration 2023-12-04 EFO:0000756 melanoma skos:exactMatch DOID:1909 melanoma semapv:ManualMappingCuration 2022-01-24 EFO:0000759 lipoma skos:exactMatch DOID:3315 lipoma semapv:ManualMappingCuration 2022-01-24 EFO:0000760 malignant peripheral nerve sheath tumor skos:exactMatch DOID:5940 malignant peripheral nerve sheath tumor semapv:ManualMappingCuration 2022-01-24 EFO:0000762 hepatocellular adenoma skos:exactMatch DOID:0050868 hepatocellular adenoma semapv:ManualMappingCuration 2022-01-24 EFO:0000763 viral disease skos:exactMatch DOID:934 viral infectious disease semapv:ManualMappingCuration 2022-01-24 EFO:0000764 HIV infection skos:exactMatch DOID:526 human immunodeficiency virus infectious disease semapv:ManualMappingCuration 2022-01-24 EFO:0000765 AIDS skos:exactMatch DOID:635 acquired immunodeficiency syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0000767 idiopathic cardiomyopathy skos:exactMatch DOID:0050700 cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:0000768 idiopathic pulmonary fibrosis skos:exactMatch DOID:0050156 idiopathic pulmonary fibrosis semapv:ManualMappingCuration 2022-01-24 EFO:0000769 Epstein-Barr virus infection skos:exactMatch DOID:2938 Epstein-Barr virus infectious disease semapv:ManualMappingCuration 2023-12-04 EFO:0000770 malignant pleural mesothelioma skos:exactMatch DOID:7474 malignant pleural mesothelioma semapv:ManualMappingCuration 2022-01-24 EFO:0000771 bacterial disease skos:exactMatch DOID:104 bacterial infectious disease semapv:ManualMappingCuration 2022-01-24 EFO:0000772 pneumococcal infection skos:exactMatch DOID:9000989 Pneumococcal Infections semapv:ManualMappingCuration 2023-12-04 EFO:0000773 temporal lobe epilepsy skos:exactMatch DOID:3328 temporal lobe epilepsy semapv:ManualMappingCuration 2022-01-24 EFO:0000775 Whipple's disease skos:exactMatch DOID:8476 Whipple disease semapv:ManualMappingCuration 2022-01-24 EFO:0000777 human granulocytic anaplasmosis skos:exactMatch DOID:0050025 human granulocytic anaplasmosis semapv:ManualMappingCuration 2022-01-24 EFO:0000778 anthrax infection skos:exactMatch DOID:7427 anthrax disease semapv:ManualMappingCuration 2022-01-24 EFO:0000780 Enterococcus faecalis infection skos:exactMatch DOID:9002823 Gram-Positive Bacterial Infections semapv:ManualMappingCuration 2023-12-04 EFO:0000783 myositis skos:exactMatch DOID:633 myositis semapv:ManualMappingCuration 2022-01-24 EFO:0001054 leprosy skos:exactMatch DOID:1024 leprosy semapv:ManualMappingCuration 2022-01-24 EFO:0001055 borderline leprosy skos:exactMatch DOID:1023 borderline leprosy semapv:ManualMappingCuration 2022-01-24 EFO:0001056 tuberculoid leprosy skos:exactMatch DOID:1025 tuberculoid leprosy semapv:ManualMappingCuration 2022-01-24 EFO:0001057 lepromatous leprosy skos:exactMatch DOID:10887 lepromatous leprosy semapv:ManualMappingCuration 2022-01-24 EFO:0001058 sensory system disease skos:exactMatch DOID:0050155 sensory system disease semapv:ManualMappingCuration 2022-01-24 EFO:0001060 celiac disease skos:exactMatch DOID:10608 celiac disease semapv:ManualMappingCuration 2022-01-24 EFO:0001061 cervical carcinoma skos:exactMatch DOID:2893 cervix carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0001062 cytomegalovirus infection skos:exactMatch DOID:9006262 Cytomegalovirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0001063 deafness skos:exactMatch DOID:9008681 Deafness semapv:ManualMappingCuration 2023-12-04 EFO:0001064 Down syndrome skos:exactMatch DOID:14250 Down syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0001065 endometriosis skos:exactMatch DOID:289 endometriosis semapv:ManualMappingCuration 2022-01-24 EFO:0001066 experimental autoimmune encephalomyelitis skos:exactMatch DOID:9002763 Experimental Autoimmune Encephalomyelitis semapv:ManualMappingCuration 2023-12-04 EFO:0001067 parasitic infection skos:exactMatch DOID:1398 parasitic infectious disease semapv:ManualMappingCuration 2022-01-24 EFO:0001068 malaria skos:exactMatch DOID:12365 malaria semapv:ManualMappingCuration 2022-01-24 EFO:0001069 nutritional disorder skos:exactMatch DOID:374 nutrition disease semapv:ManualMappingCuration 2022-01-24 EFO:0001070 folate deficiency skos:exactMatch DOID:14026 folic acid deficiency anemia semapv:ManualMappingCuration 2023-12-04 EFO:0001071 lung carcinoma skos:exactMatch DOID:3905 lung carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0001072 memory impairment skos:exactMatch DOID:9008023 Memory Disorders semapv:ManualMappingCuration 2023-12-04 EFO:0001073 obesity skos:exactMatch DOID:9970 obesity semapv:ManualMappingCuration 2022-01-24 EFO:0001074 morbid obesity skos:exactMatch DOID:11981 morbid obesity semapv:ManualMappingCuration 2022-01-24 EFO:0001075 ovarian carcinoma skos:exactMatch DOID:4001 ovarian carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0001076 Pseudomonas infection skos:exactMatch DOID:9007417 Pseudomonas Infections semapv:ManualMappingCuration 2023-12-04 EFO:0001077 Pseudomonas aeruginosa CF5 infection skos:exactMatch DOID:9007417 Pseudomonas Infections semapv:ManualMappingCuration 2023-12-04 EFO:0001356 familial amyotrophic lateral sclerosis skos:exactMatch DOID:332 amyotrophic lateral sclerosis semapv:ManualMappingCuration 2023-12-04 EFO:0001357 sporadic amyotrophic lateral sclerosis skos:exactMatch DOID:0080917 sporadic amyotrophic lateral sclerosis semapv:ManualMappingCuration 2023-04-17 EFO:0001357 sporadic amyotrophic lateral sclerosis skos:exactMatch DOID:332 amyotrophic lateral sclerosis semapv:ManualMappingCuration 2023-12-04 EFO:0001358 post-traumatic stress disorder skos:exactMatch DOID:2055 post-traumatic stress disorder semapv:ManualMappingCuration 2022-01-24 EFO:0001361 pulmonary arterial hypertension skos:exactMatch DOID:6432 pulmonary hypertension semapv:ManualMappingCuration 2022-01-24 EFO:0001361 pulmonary arterial hypertension skos:exactMatch DOID:9001820 Pulmonary Arterial Hypertension semapv:ManualMappingCuration 2023-12-04 EFO:0001365 age-related macular degeneration skos:exactMatch DOID:10871 age related macular degeneration semapv:ManualMappingCuration 2022-01-24 EFO:0001365 age-related macular degeneration skos:exactMatch DOID:4448 macular degeneration semapv:ManualMappingCuration 2022-01-24 EFO:0001376 synovial sarcoma skos:exactMatch DOID:5485 synovial sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0001378 multiple myeloma skos:exactMatch DOID:9538 multiple myeloma semapv:ManualMappingCuration 2022-01-24 EFO:0001379 endocrine system disease skos:exactMatch DOID:28 endocrine system disease semapv:ManualMappingCuration 2022-01-24 EFO:0001380 hypopituitarism skos:exactMatch DOID:9406 hypopituitarism semapv:ManualMappingCuration 2022-01-24 EFO:0001416 cervical adenocarcinoma skos:exactMatch DOID:3702 cervical adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0001421 liver disease skos:exactMatch DOID:409 liver disease semapv:ManualMappingCuration 2022-01-24 EFO:0001422 cirrhosis of liver skos:exactMatch DOID:5082 liver cirrhosis semapv:ManualMappingCuration 2022-01-24 EFO:0001423 encephalomyelitis skos:exactMatch DOID:640 encephalomyelitis semapv:ManualMappingCuration 2022-01-24 EFO:0001425 ischemic cardiomyopathy skos:exactMatch DOID:9003511 ischemic cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:0001645 coronary artery disease skos:exactMatch DOID:3393 coronary artery disease semapv:ManualMappingCuration 2022-01-24 EFO:0001663 prostate carcinoma skos:exactMatch DOID:10286 prostate carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0001666 aortic aneurysm skos:exactMatch DOID:3627 aortic aneurysm semapv:ManualMappingCuration 2022-01-24 EFO:0001668 human papilloma virus infection skos:exactMatch DOID:11166 papillomavirus infectious disease semapv:ManualMappingCuration 2023-04-17 EFO:0002087 fibrosarcoma skos:exactMatch DOID:3355 fibrosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0002422 benign neoplasm skos:exactMatch DOID:0060072 benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0002422 benign neoplasm skos:exactMatch DOID:0060084 cell type benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0002422 benign neoplasm skos:exactMatch DOID:0060085 organ system benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0002423 osteoma skos:exactMatch DOID:9004412 Osteoma semapv:ManualMappingCuration 2023-12-04 EFO:0002424 fibroma skos:exactMatch DOID:0050871 fibroma semapv:ManualMappingCuration 2022-01-24 EFO:0002427 myeloid neoplasm skos:exactMatch DOID:0070004 myeloid neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0002428 chronic myeloproliferative disorder skos:exactMatch DOID:2226 myeloproliferative neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0002429 polycythemia vera skos:exactMatch DOID:8997 polycythemia vera semapv:ManualMappingCuration 2022-01-24 EFO:0002430 primary myelofibrosis skos:exactMatch DOID:4971 myelofibrosis semapv:ManualMappingCuration 2022-01-24 EFO:0002431 tumour of cranial and spinal nerves skos:exactMatch DOID:1192 peripheral nervous system neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0002460 hypertrophy skos:exactMatch DOID:9000040 Hypertrophy semapv:ManualMappingCuration 2023-12-04 EFO:0002496 actinic keratosis skos:exactMatch DOID:8866 actinic keratosis semapv:ManualMappingCuration 2022-01-24 EFO:0002498 aggressive insulitis skos:exactMatch DOID:4989 pancreatitis semapv:ManualMappingCuration 2023-12-04 EFO:0002499 anaplastic astrocytoma skos:exactMatch DOID:3078 anaplastic astrocytoma semapv:ManualMappingCuration 2022-01-24 EFO:0002500 anaplastic oligoastrocytoma skos:exactMatch DOID:3069 malignant astrocytoma semapv:ManualMappingCuration 2023-12-04 EFO:0002501 anaplastic oligodendroglioma skos:exactMatch DOID:7154 anaplastic oligodendroglioma semapv:ManualMappingCuration 2023-03-17 EFO:0002502 benign insulitis skos:exactMatch DOID:4989 pancreatitis semapv:ManualMappingCuration 2023-12-04 EFO:0002503 cardiac hypertrophy skos:exactMatch DOID:9003936 Cardiomegaly semapv:ManualMappingCuration 2023-12-04 EFO:0002504 serous cystadenoma skos:exactMatch DOID:9008844 Serous Cystadenoma semapv:ManualMappingCuration 2023-12-04 EFO:0002507 ovarian adenoma benign skos:exactMatch DOID:0060112 ovarian benign neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:0002509 progressive external ophthalmoplegia skos:exactMatch DOID:12558 chronic progressive external ophthalmoplegia semapv:ManualMappingCuration 2022-01-24 EFO:0002511 simple cystadenoma skos:exactMatch DOID:3269 ovarian cystadenoma semapv:ManualMappingCuration 2022-01-24 EFO:0002608 AIDS dementia skos:exactMatch DOID:9004086 AIDS Dementia Complex semapv:ManualMappingCuration 2023-12-04 EFO:0002609 juvenile idiopathic arthritis skos:exactMatch DOID:676 juvenile rheumatoid arthritis semapv:ManualMappingCuration 2022-01-24 EFO:0002610 cocaine dependence skos:exactMatch DOID:9975 cocaine dependence semapv:ManualMappingCuration 2022-01-24 EFO:0002612 human herpesvirus 8 infection skos:exactMatch DOID:9007812 human herpesvirus 8 infection semapv:ManualMappingCuration 2023-12-04 EFO:0002613 iatrogenic Kaposi's sarcoma skos:exactMatch DOID:8632 Kaposi's sarcoma semapv:ManualMappingCuration 2023-12-04 EFO:0002614 insulin resistance skos:exactMatch DOID:9007692 Insulin Resistance semapv:ManualMappingCuration 2023-12-04 EFO:0002615 internal carotid artery stenosis skos:exactMatch DOID:13001 carotid stenosis semapv:ManualMappingCuration 2023-12-04 EFO:0002616 macroglobulinemia skos:exactMatch DOID:9080 macroglobulinemia semapv:ManualMappingCuration 2022-01-24 EFO:0002618 pancreatic carcinoma skos:exactMatch DOID:4905 pancreatic carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0002621 prostate intraepithelial neoplasia skos:exactMatch DOID:8634 prostate carcinoma in situ semapv:ManualMappingCuration 2023-12-04 EFO:0002622 rotavirus infection skos:exactMatch DOID:9000645 Rotavirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0002623 septic peritonitis skos:exactMatch DOID:9007367 Septic Peritonitis semapv:ManualMappingCuration 2023-12-04 EFO:0002626 thymus neoplasm skos:exactMatch DOID:9005161 Thymus Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0002627 vulvar intraepithelial neoplasia skos:exactMatch DOID:9006454 vulvar intraepithelial neoplasia semapv:ManualMappingCuration 2023-12-04 EFO:0002628 peripartum cardiomyopathy skos:exactMatch DOID:9997 peripartum cardiomyopathy semapv:ManualMappingCuration 2022-01-24 EFO:0002629 viral cardiomyopathy skos:exactMatch DOID:0050700 cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:0002630 restrictive cardiomyopathy skos:exactMatch DOID:397 restrictive cardiomyopathy semapv:ManualMappingCuration 2022-01-24 EFO:0002687 ischemia reperfusion injury skos:exactMatch DOID:9004009 Reperfusion Injury semapv:ManualMappingCuration 2023-12-04 EFO:0002689 antiphospholipid syndrome skos:exactMatch DOID:2988 antiphospholipid syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0002890 renal carcinoma skos:exactMatch DOID:4451 renal carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0002892 thyroid carcinoma skos:exactMatch DOID:3963 thyroid gland carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0002893 choriocarcinoma skos:exactMatch DOID:3594 choriocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0002894 amelanotic skin melanoma skos:exactMatch DOID:10054 skin amelanotic melanoma semapv:ManualMappingCuration 2022-01-24 EFO:0002913 Cutaneous T-cell lymphoma skos:exactMatch DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:0002914 uterine sarcoma skos:exactMatch DOID:5165 uterine corpus sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0002916 esophageal carcinoma skos:exactMatch DOID:1107 esophageal carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0002917 ovarian serous adenocarcinoma skos:exactMatch DOID:0050933 ovarian serous carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0002917 ovarian serous adenocarcinoma skos:exactMatch DOID:5744 ovary serous adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0002918 rhabdomyosarcoma skos:exactMatch DOID:3247 rhabdomyosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0002919 uterine carcinoma skos:exactMatch DOID:9008198 uterine carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0002920 vulva sarcoma skos:exactMatch DOID:2096 vulvar sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0002921 vulvar carcinoma skos:exactMatch DOID:1294 vulva carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0002938 hypopharyngeal carcinoma skos:exactMatch DOID:8533 hypopharynx cancer semapv:ManualMappingCuration 2023-12-04 EFO:0002939 medulloblastoma skos:exactMatch DOID:0050902 medulloblastoma semapv:ManualMappingCuration 2022-01-24 EFO:0002939 medulloblastoma skos:exactMatch DOID:0060104 cerebellar medulloblastoma semapv:ManualMappingCuration 2022-01-24 EFO:0002945 familial cardiomyopathy skos:exactMatch DOID:0050700 cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:0002970 muscular disease skos:exactMatch DOID:0080000 muscular disease semapv:ManualMappingCuration 2022-01-24 EFO:0003014 breast fibrocystic disease skos:exactMatch DOID:10354 breast fibrocystic disease semapv:ManualMappingCuration 2022-01-24 EFO:0003016 collecting duct carcinoma skos:exactMatch DOID:4464 collecting duct carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0003017 transitional cell carcinoma of kidney skos:exactMatch DOID:5974 renal pelvis transitional cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0003025 acute megakaryoblastic leukaemia skos:exactMatch DOID:8761 acute megakaryocytic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0003026 minimally differentiated acute myeloblastic leukemia skos:exactMatch DOID:0081085 acute myeloid leukemia with minimal differentiation semapv:ManualMappingCuration 2023-03-17 EFO:0003027 acute myeloblastic leukemia without maturation skos:exactMatch DOID:0081086 acute myeloid leukemia without maturation semapv:ManualMappingCuration 2023-04-17 EFO:0003028 acute myeloblastic leukemia with maturation skos:exactMatch DOID:0081087 acute myeloid leukemia with maturation semapv:ManualMappingCuration 2023-04-17 EFO:0003029 acute basophilic leukemia skos:exactMatch DOID:0080795 acute basophilic leukemia semapv:ManualMappingCuration 2023-03-17 EFO:0003030 abscess skos:exactMatch DOID:9000325 Abscess semapv:ManualMappingCuration 2023-12-04 EFO:0003032 anaplastic large cell lymphoma skos:exactMatch DOID:0050744 anaplastic large cell lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:0003033 bacteriemia skos:exactMatch DOID:0040085 bacterial sepsis semapv:ManualMappingCuration 2022-01-24 EFO:0003033 bacteriemia skos:exactMatch DOID:9005036 Bacteremia semapv:ManualMappingCuration 2023-12-04 EFO:0003035 cellulitis skos:exactMatch DOID:3488 cellulitis semapv:ManualMappingCuration 2022-01-24 EFO:0003046 heart transplant rejection skos:exactMatch DOID:9005298 heart transplant rejection semapv:ManualMappingCuration 2023-12-04 EFO:0003047 hepatitis C virus infection skos:exactMatch DOID:1883 hepatitis C semapv:ManualMappingCuration 2022-01-24 EFO:0003050 large cell lung carcinoma skos:exactMatch DOID:4556 lung large cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0003060 non-small cell lung carcinoma skos:exactMatch DOID:3908 lung non-small cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0003063 polymyositis skos:exactMatch DOID:0080745 polymyositis semapv:ManualMappingCuration 2023-03-17 EFO:0003073 asymptomatic myeloma skos:exactMatch DOID:9551 smoldering myeloma semapv:ManualMappingCuration 2022-01-24 EFO:0003075 xanthoma skos:exactMatch DOID:3345 xanthomatosis semapv:ManualMappingCuration 2023-12-04 EFO:0003083 pleomorphic liposarcoma skos:exactMatch DOID:5702 pleomorphic liposarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0003084 round cell liposarcoma skos:exactMatch DOID:5692 cellular myxoid liposarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0003085 dedifferentiated liposarcoma skos:exactMatch DOID:0080531 dedifferentiated liposarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0003086 kidney disease skos:exactMatch DOID:557 kidney disease semapv:ManualMappingCuration 2022-01-24 EFO:0003094 ganglioglioma skos:exactMatch DOID:5078 ganglioglioma semapv:ManualMappingCuration 2022-01-24 EFO:0003095 non-alcoholic fatty liver disease skos:exactMatch DOID:0080208 metabolic dysfunction-associated steatotic liver disease semapv:ManualMappingCuration 2022-01-24 EFO:0003095 non-alcoholic fatty liver disease skos:exactMatch DOID:0080546 non-alcoholic fatty liver semapv:ManualMappingCuration 2023-04-17 EFO:0003096 Pick disease skos:exactMatch DOID:11870 Pick's disease semapv:ManualMappingCuration 2022-01-24 EFO:0003097 empyema skos:exactMatch DOID:9004425 Empyema semapv:ManualMappingCuration 2023-12-04 EFO:0003099 Cushing syndrome skos:exactMatch DOID:9005158 Cushing Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0003100 peripheral neuropathy skos:exactMatch DOID:870 neuropathy semapv:ManualMappingCuration 2022-01-24 EFO:0003101 testicular seminoma skos:exactMatch DOID:5842 testis seminoma semapv:ManualMappingCuration 2022-01-24 EFO:0003102 osteomyelitis skos:exactMatch DOID:1019 osteomyelitis semapv:ManualMappingCuration 2022-01-24 EFO:0003103 urinary tract infection skos:exactMatch DOID:0080784 urinary tract infection semapv:ManualMappingCuration 2023-03-17 EFO:0003104 adrenocortical adenoma skos:exactMatch DOID:0050891 adrenal cortical adenoma semapv:ManualMappingCuration 2022-01-24 EFO:0003104 adrenocortical adenoma skos:exactMatch DOID:656 adrenal adenoma semapv:ManualMappingCuration 2022-01-24 EFO:0003105 spina bifida skos:exactMatch DOID:0080016 spina bifida semapv:ManualMappingCuration 2022-01-24 EFO:0003106 pneumonia skos:exactMatch DOID:552 pneumonia semapv:ManualMappingCuration 2022-01-24 EFO:0003108 essential tremor skos:exactMatch DOID:4990 essential tremor semapv:ManualMappingCuration 2022-01-24 EFO:0003110 villitis skos:exactMatch DOID:9002556 villitis semapv:ManualMappingCuration 2023-12-04 EFO:0003144 heart failure skos:exactMatch DOID:6000 congestive heart failure semapv:ManualMappingCuration 2023-12-04 EFO:0003145 high output heart failure skos:exactMatch DOID:6000 congestive heart failure semapv:ManualMappingCuration 2023-12-04 EFO:0003146 symptomatic heart failure skos:exactMatch DOID:6000 congestive heart failure semapv:ManualMappingCuration 2023-12-04 EFO:0003148 moderate heart failure skos:exactMatch DOID:6000 congestive heart failure semapv:ManualMappingCuration 2023-12-04 EFO:0003149 advanced heart failure skos:exactMatch DOID:6000 congestive heart failure semapv:ManualMappingCuration 2023-12-04 EFO:0003756 autism spectrum disorder skos:exactMatch DOID:0060041 autism spectrum disorder semapv:ManualMappingCuration 2022-01-24 EFO:0003757 Asperger syndrome skos:exactMatch DOID:0050432 Asperger syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0003758 autism skos:exactMatch DOID:12849 autistic disorder semapv:ManualMappingCuration 2022-01-24 EFO:0003759 pervasive developmental disorder - not otherwise specified skos:exactMatch DOID:0060042 atypical autism semapv:ManualMappingCuration 2022-01-24 EFO:0003760 central nervous system cyst skos:exactMatch DOID:9003857 Central Nervous System Cysts semapv:ManualMappingCuration 2023-12-04 EFO:0003762 vitamin D deficiency skos:exactMatch DOID:9006359 Vitamin D Deficiency semapv:ManualMappingCuration 2023-12-04 EFO:0003763 cerebrovascular disorder skos:exactMatch DOID:6713 cerebrovascular disease semapv:ManualMappingCuration 2022-01-24 EFO:0003764 transient ischemic attack skos:exactMatch DOID:224 transient cerebral ischemia semapv:ManualMappingCuration 2022-01-24 EFO:0003765 sign or symptom skos:exactMatch DOID:9000071 Signs and Symptoms semapv:ManualMappingCuration 2023-12-04 EFO:0003767 inflammatory bowel disease skos:exactMatch DOID:0050589 inflammatory bowel disease semapv:ManualMappingCuration 2022-01-24 EFO:0003768 nicotine dependence skos:exactMatch DOID:0050742 nicotine dependence semapv:ManualMappingCuration 2022-01-24 EFO:0003769 endocrine neoplasm skos:exactMatch DOID:170 endocrine gland cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003769 endocrine neoplasm skos:exactMatch DOID:9007803 Endocrine Gland Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003770 diabetic retinopathy skos:exactMatch DOID:8947 diabetic retinopathy semapv:ManualMappingCuration 2022-01-24 EFO:0003777 heart disease skos:exactMatch DOID:114 heart disease semapv:ManualMappingCuration 2022-01-24 EFO:0003778 psoriatic arthritis skos:exactMatch DOID:9008 psoriatic arthritis semapv:ManualMappingCuration 2022-01-24 EFO:0003779 Hashimoto's thyroiditis skos:exactMatch DOID:7188 autoimmune thyroiditis semapv:ManualMappingCuration 2022-01-24 EFO:0003779 Hashimoto's thyroiditis skos:exactMatch DOID:9007355 Hashimoto Disease semapv:ManualMappingCuration 2023-12-04 EFO:0003780 Behcet's syndrome skos:exactMatch DOID:13241 Behcet's disease semapv:ManualMappingCuration 2022-01-24 EFO:0003781 carotid artery disease skos:exactMatch DOID:3407 carotid artery disease semapv:ManualMappingCuration 2022-01-24 EFO:0003782 motor neuron disease skos:exactMatch DOID:231 motor neuron disease semapv:ManualMappingCuration 2022-01-24 EFO:0003783 progressive bulbar palsy skos:exactMatch DOID:681 progressive bulbar palsy semapv:ManualMappingCuration 2022-01-24 EFO:0003802 refractory anemia skos:exactMatch DOID:9000300 Refractory Anemia semapv:ManualMappingCuration 2023-12-04 EFO:0003811 refractory anemia with excess blasts skos:exactMatch DOID:9005969 Refractory Anemia with Excess of Blasts semapv:ManualMappingCuration 2023-12-04 EFO:0003812 refractory anemia with ringed sideroblasts skos:exactMatch DOID:8955 sideroblastic anemia semapv:ManualMappingCuration 2023-12-04 EFO:0003817 laryngeal neoplasm skos:exactMatch DOID:2596 larynx cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003817 laryngeal neoplasm skos:exactMatch DOID:9003613 Laryngeal Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003818 lung disease skos:exactMatch DOID:850 lung disease semapv:ManualMappingCuration 2022-01-24 EFO:0003819 dental caries skos:exactMatch DOID:216 dental caries semapv:ManualMappingCuration 2022-01-24 EFO:0003820 bone neoplasm skos:exactMatch DOID:184 bone cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003820 bone neoplasm skos:exactMatch DOID:9004389 Bone Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003822 hyperemia skos:exactMatch DOID:9009039 Hyperemia semapv:ManualMappingCuration 2023-12-04 EFO:0003824 eye neoplasm skos:exactMatch DOID:9004059 Eye Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003825 serous adenocarcinoma skos:exactMatch DOID:3114 serous cystadenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0003826 salivary gland neoplasm skos:exactMatch DOID:8850 salivary gland cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003826 salivary gland neoplasm skos:exactMatch DOID:9003216 Salivary Gland Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003827 pulmonary embolism skos:exactMatch DOID:9477 pulmonary embolism semapv:ManualMappingCuration 2022-01-24 EFO:0003828 spinal cord neoplasm skos:exactMatch DOID:9006391 Spinal Cord Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003830 prostatitis skos:exactMatch DOID:14654 prostatitis semapv:ManualMappingCuration 2022-01-24 EFO:0003832 gallbladder disease skos:exactMatch DOID:0060262 gallbladder disease semapv:ManualMappingCuration 2022-01-24 EFO:0003833 brain neoplasm skos:exactMatch DOID:1319 brain cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003833 brain neoplasm skos:exactMatch DOID:9007502 Brain Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003834 cutaneous lupus erythematosus skos:exactMatch DOID:0050169 cutaneous lupus erythematosus semapv:ManualMappingCuration 2022-01-24 EFO:0003835 anal neoplasm skos:exactMatch DOID:14110 anus cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003835 anal neoplasm skos:exactMatch DOID:4551 anus benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0003837 calcification skos:exactMatch DOID:182 calcinosis semapv:ManualMappingCuration 2022-01-24 EFO:0003839 retinopathy skos:exactMatch DOID:5679 retinal disease semapv:ManualMappingCuration 2022-01-24 EFO:0003840 chronic progressive multiple sclerosis skos:exactMatch DOID:0050783 secondary progressive multiple sclerosis semapv:ManualMappingCuration 2022-01-24 EFO:0003840 chronic progressive multiple sclerosis skos:exactMatch DOID:0050784 primary progressive multiple sclerosis semapv:ManualMappingCuration 2022-01-24 EFO:0003840 chronic progressive multiple sclerosis skos:exactMatch DOID:0050785 progressive relapsing multiple sclerosis semapv:ManualMappingCuration 2022-01-24 EFO:0003841 thyroid neoplasm skos:exactMatch DOID:2891 thyroid adenoma semapv:ManualMappingCuration 2022-01-24 EFO:0003841 thyroid neoplasm skos:exactMatch DOID:9004547 Thyroid Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003843 pain skos:exactMatch DOID:9000641 Pain semapv:ManualMappingCuration 2023-12-04 EFO:0003844 ureteral neoplasm skos:exactMatch DOID:11819 ureter cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003844 ureteral neoplasm skos:exactMatch DOID:9003753 Ureteral Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003846 urethral neoplasm skos:exactMatch DOID:734 urethra cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003846 urethral neoplasm skos:exactMatch DOID:9002378 Urethral Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003849 palatal neoplasm skos:exactMatch DOID:9005313 Palatal Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003850 adrenal gland neoplasm skos:exactMatch DOID:3953 adrenal gland cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003850 adrenal gland neoplasm skos:exactMatch DOID:9000362 Adrenal Gland Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003851 meningeal neoplasm skos:exactMatch DOID:9007166 Meningeal Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003852 developmental disability skos:exactMatch DOID:9008086 Developmental Disabilities semapv:ManualMappingCuration 2023-12-04 EFO:0003853 respiratory system neoplasm skos:exactMatch DOID:9003744 Respiratory Tract Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003854 postmenopausal osteoporosis skos:exactMatch DOID:9004914 Postmenopausal Osteoporosis semapv:ManualMappingCuration 2023-12-04 EFO:0003855 intestinal polyp skos:exactMatch DOID:9001642 Intestinal Polyps semapv:ManualMappingCuration 2023-12-04 EFO:0003857 arthrogryposis skos:exactMatch DOID:0080954 arthrogryposis multiplex congenita semapv:ManualMappingCuration 2023-12-04 EFO:0003859 uterine neoplasm skos:exactMatch DOID:363 uterine cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003859 uterine neoplasm skos:exactMatch DOID:9004268 Uterine Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003860 pancreatic neoplasm skos:exactMatch DOID:1793 pancreatic cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003860 pancreatic neoplasm skos:exactMatch DOID:9003100 Pancreatic Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003863 urogenital neoplasm skos:exactMatch DOID:9007150 Urogenital Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003865 kidney neoplasm skos:exactMatch DOID:263 kidney cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003865 kidney neoplasm skos:exactMatch DOID:9002265 Kidney Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003866 paranasal sinus neoplasm skos:exactMatch DOID:1350 paranasal sinus benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0003867 rhabdomyolysis skos:exactMatch DOID:9000884 Rhabdomyolysis semapv:ManualMappingCuration 2023-12-04 EFO:0003868 mouth neoplasm skos:exactMatch DOID:9007364 Mouth Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003869 breast neoplasm skos:exactMatch DOID:9008939 Breast Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003870 brain aneurysm skos:exactMatch DOID:10941 intracranial aneurysm semapv:ManualMappingCuration 2022-01-24 EFO:0003871 tongue neoplasm skos:exactMatch DOID:8649 tongue cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003871 tongue neoplasm skos:exactMatch DOID:9005873 Tongue Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003872 colitis skos:exactMatch DOID:0060180 colitis semapv:ManualMappingCuration 2022-01-24 EFO:0003873 parotid neoplasm skos:exactMatch DOID:9000769 Parotid Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003874 flatfoot skos:exactMatch DOID:9007573 Flatfoot semapv:ManualMappingCuration 2023-12-04 EFO:0003875 peripheral vascular disease skos:exactMatch DOID:341 peripheral vascular disease semapv:ManualMappingCuration 2022-01-24 EFO:0003876 intermittent vascular claudication skos:exactMatch DOID:3669 intermittent claudication semapv:ManualMappingCuration 2022-01-24 EFO:0003877 sleep apnea skos:exactMatch DOID:0050847 sleep apnea semapv:ManualMappingCuration 2022-01-24 EFO:0003878 urethritis skos:exactMatch DOID:1343 urethritis semapv:ManualMappingCuration 2022-01-24 EFO:0003880 appendiceal neoplasm skos:exactMatch DOID:11240 appendiceal neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0003882 osteoporosis skos:exactMatch DOID:11476 osteoporosis semapv:ManualMappingCuration 2022-01-24 EFO:0003884 chronic kidney disease skos:exactMatch DOID:784 chronic kidney disease semapv:ManualMappingCuration 2022-01-24 EFO:0003888 attention deficit hyperactivity disorder skos:exactMatch DOID:1094 attention deficit hyperactivity disorder semapv:ManualMappingCuration 2022-01-24 EFO:0003890 drug dependence skos:exactMatch DOID:9974 drug dependence semapv:ManualMappingCuration 2022-01-24 EFO:0003891 biliary tract neoplasm skos:exactMatch DOID:0050625 biliary tract benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0003893 ovarian neoplasm skos:exactMatch DOID:9002762 Ovarian Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003894 acne skos:exactMatch DOID:6543 acne semapv:ManualMappingCuration 2022-01-24 EFO:0003895 epistaxis skos:exactMatch DOID:9008421 Epistaxis semapv:ManualMappingCuration 2023-12-04 EFO:0003896 left ventricular hypertrophy skos:exactMatch DOID:9004616 Left Ventricular Hypertrophy semapv:ManualMappingCuration 2023-12-04 EFO:0003897 stomach neoplasm skos:exactMatch DOID:10534 stomach cancer semapv:ManualMappingCuration 2022-01-24 EFO:0003897 stomach neoplasm skos:exactMatch DOID:9000217 Stomach Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0003898 ankylosing spondylitis skos:exactMatch DOID:7147 ankylosing spondylitis semapv:ManualMappingCuration 2022-01-24 EFO:0003899 contracture skos:exactMatch DOID:9006836 Contracture semapv:ManualMappingCuration 2023-12-04 EFO:0003900 ciliopathy skos:exactMatch DOID:0060340 ciliopathy semapv:ManualMappingCuration 2022-01-24 EFO:0003901 dysuria skos:exactMatch DOID:9006846 Dysuria semapv:ManualMappingCuration 2023-12-04 EFO:0003902 spinal fracture skos:exactMatch DOID:9002407 Spinal Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0003907 deep vein thrombosis skos:exactMatch DOID:9003871 Venous Thrombosis semapv:ManualMappingCuration 2023-12-04 EFO:0003911 atrial flutter skos:exactMatch DOID:9003901 Atrial Flutter semapv:ManualMappingCuration 2023-12-04 EFO:0003913 angina pectoris skos:exactMatch DOID:9000483 Angina Pectoris semapv:ManualMappingCuration 2023-12-04 EFO:0003914 atherosclerosis skos:exactMatch DOID:1936 atherosclerosis semapv:ManualMappingCuration 2022-01-24 EFO:0003917 premature birth skos:exactMatch DOID:9003507 Premature Birth semapv:ManualMappingCuration 2023-12-04 EFO:0003918 obstructive sleep apnea skos:exactMatch DOID:0050848 obstructive sleep apnea semapv:ManualMappingCuration 2022-01-24 EFO:0003921 pouchitis skos:exactMatch DOID:9006064 Pouchitis semapv:ManualMappingCuration 2023-12-04 EFO:0003928 necrotizing enterocolitis skos:exactMatch DOID:8677 perinatal necrotizing enterocolitis semapv:ManualMappingCuration 2023-12-04 EFO:0003929 relapsing-remitting multiple sclerosis skos:exactMatch DOID:2378 relapsing-remitting multiple sclerosis semapv:ManualMappingCuration 2022-01-24 EFO:0003931 bone fracture skos:exactMatch DOID:9002589 Bone Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0003932 bacterial vaginosis skos:exactMatch DOID:3385 bacterial vaginosis semapv:ManualMappingCuration 2022-01-24 EFO:0003938 aphthous ulcer skos:exactMatch DOID:9663 aphthous stomatitis semapv:ManualMappingCuration 2022-01-24 EFO:0003943 humerus fracture skos:exactMatch DOID:9000529 Humeral Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0003944 tibia fracture skos:exactMatch DOID:9001547 Tibial Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0003948 gastroesophageal reflux disease skos:exactMatch DOID:8534 gastroesophageal reflux disease semapv:ManualMappingCuration 2022-01-24 EFO:0003950 ulna fracture skos:exactMatch DOID:9001872 Ulna Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0003952 fever of unknown origin skos:exactMatch DOID:9006865 Fever of Unknown Origin semapv:ManualMappingCuration 2023-12-04 EFO:0003955 bacterial sexually transmitted disease skos:exactMatch DOID:9006980 Bacterial Sexually Transmitted Diseases semapv:ManualMappingCuration 2023-12-04 EFO:0003956 seasonal allergic rhinitis skos:exactMatch DOID:9008103 Seasonal Allergic Rhinitis semapv:ManualMappingCuration 2023-12-04 EFO:0003957 radius fracture skos:exactMatch DOID:9005316 Radius Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0003958 sunburn skos:exactMatch DOID:9003386 Sunburn semapv:ManualMappingCuration 2023-12-04 EFO:0003959 cleft lip skos:exactMatch DOID:9296 cleft lip semapv:ManualMappingCuration 2022-01-24 EFO:0003963 freckles skos:exactMatch DOID:9001583 Melanosis semapv:ManualMappingCuration 2023-12-04 EFO:0003964 hip fracture skos:exactMatch DOID:9007265 Hip Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0003966 eye disease skos:exactMatch DOID:1242 globe disease semapv:ManualMappingCuration 2023-03-06 EFO:0003966 eye disease skos:exactMatch DOID:5614 eye disease semapv:ManualMappingCuration 2022-01-24 EFO:0003967 vascular sarcoma skos:exactMatch DOID:0001816 angiosarcoma semapv:ManualMappingCuration 2023-12-04 EFO:0003968 angiosarcoma skos:exactMatch DOID:0001816 angiosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0004125 growth hormone-secreting pituitary adenoma skos:exactMatch DOID:6255 growth hormone secreting pituitary adenoma semapv:ManualMappingCuration 2023-12-04 EFO:0004126 Adie syndrome skos:exactMatch DOID:11549 Adie syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0004127 hyperthyroxinemia skos:exactMatch DOID:2855 hyperthyroxinemia semapv:ManualMappingCuration 2022-01-24 EFO:0004128 hereditary nephritis skos:exactMatch DOID:10983 Alport syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0004129 familial amyloid neuropathy skos:exactMatch DOID:0050638 transthyretin amyloidosis semapv:ManualMappingCuration 2022-01-24 EFO:0004138 bundle branch block skos:exactMatch DOID:9003912 Bundle-Branch Block semapv:ManualMappingCuration 2023-12-04 EFO:0004142 colorectal neoplasm skos:exactMatch DOID:9008443 Colorectal Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0004143 carpal tunnel syndrome skos:exactMatch DOID:12169 carpal tunnel syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0004144 acatalasia skos:exactMatch DOID:2582 acatalasia semapv:ManualMappingCuration 2022-01-24 EFO:0004145 myopathy skos:exactMatch DOID:423 myopathy semapv:ManualMappingCuration 2022-01-24 EFO:0004149 neuropathy skos:exactMatch DOID:870 neuropathy semapv:ManualMappingCuration 2022-01-24 EFO:0004152 chorea skos:exactMatch DOID:12859 choreatic disease semapv:ManualMappingCuration 2022-01-24 EFO:0004190 open-angle glaucoma skos:exactMatch DOID:1067 open-angle glaucoma semapv:ManualMappingCuration 2022-01-24 EFO:0004191 androgenetic alopecia skos:exactMatch DOID:0050801 androgenic alopecia semapv:ManualMappingCuration 2022-01-24 EFO:0004192 alopecia areata skos:exactMatch DOID:986 alopecia areata semapv:ManualMappingCuration 2022-01-24 EFO:0004193 basal cell carcinoma skos:exactMatch DOID:2513 basal cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0004194 IGA glomerulonephritis skos:exactMatch DOID:2986 IgA glomerulonephritis semapv:ManualMappingCuration 2022-01-24 EFO:0004196 viral human hepatitis infection skos:exactMatch DOID:1884 viral hepatitis semapv:ManualMappingCuration 2022-01-24 EFO:0004196 viral human hepatitis infection skos:exactMatch DOID:9007329 Human Viral Hepatitis semapv:ManualMappingCuration 2023-12-04 EFO:0004197 hepatitis B virus infection skos:exactMatch DOID:2043 hepatitis B semapv:ManualMappingCuration 2022-01-24 EFO:0004198 skin neoplasm skos:exactMatch DOID:3165 skin benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0004198 skin neoplasm skos:exactMatch DOID:4159 skin cancer semapv:ManualMappingCuration 2022-01-24 EFO:0004198 skin neoplasm skos:exactMatch DOID:9004464 Skin Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0004199 dysplastic nevus skos:exactMatch DOID:10041 dysplastic nevus syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0004200 Illumina Genome Analyzer skos:exactMatch DOID:9002969 Nevus semapv:ManualMappingCuration 2023-12-04 EFO:0004207 pathological myopia skos:exactMatch DOID:11829 degenerative myopia semapv:ManualMappingCuration 2022-01-24 EFO:0004208 Vitiligo skos:exactMatch DOID:12306 vitiligo semapv:ManualMappingCuration 2022-01-24 EFO:0004209 hypospadias skos:exactMatch DOID:10892 hypospadias semapv:ManualMappingCuration 2022-01-24 EFO:0004210 gallstones skos:exactMatch DOID:9006113 Gallstones semapv:ManualMappingCuration 2023-12-04 EFO:0004211 Hypertriglyceridemia skos:exactMatch DOID:9006599 Hypertriglyceridemia semapv:ManualMappingCuration 2023-12-04 EFO:0004212 Keloid skos:exactMatch DOID:9000058 Keloid semapv:ManualMappingCuration 2023-12-04 EFO:0004213 otosclerosis skos:exactMatch DOID:12185 otosclerosis semapv:ManualMappingCuration 2022-01-24 EFO:0004214 Abdominal Aortic Aneurysm skos:exactMatch DOID:7693 abdominal aortic aneurysm semapv:ManualMappingCuration 2022-01-24 EFO:0004216 conduct disorder skos:exactMatch DOID:12995 conduct disorder semapv:ManualMappingCuration 2022-01-24 EFO:0004220 chronic hepatitis C virus infection skos:exactMatch DOID:9004017 Chronic Hepatitis C semapv:ManualMappingCuration 2023-12-04 EFO:0004224 Coronary Restenosis skos:exactMatch DOID:4247 coronary restenosis semapv:ManualMappingCuration 2022-01-24 EFO:0004225 Coronary Vasospasm skos:exactMatch DOID:11840 coronary artery vasospasm semapv:ManualMappingCuration 2022-01-24 EFO:0004226 Creutzfeldt Jacob Disease skos:exactMatch DOID:11949 Creutzfeldt-Jakob disease semapv:ManualMappingCuration 2022-01-24 EFO:0004227 Dengue Hemorrhagic Fever skos:exactMatch DOID:12206 dengue hemorrhagic fever semapv:ManualMappingCuration 2022-01-24 EFO:0004228 drug-induced liver injury skos:exactMatch DOID:9007383 Chemical and Drug Induced Liver Injury semapv:ManualMappingCuration 2023-12-04 EFO:0004229 Dupuytren Contracture skos:exactMatch DOID:9003793 Dupuytren Contracture semapv:ManualMappingCuration 2023-12-04 EFO:0004230 endometrial neoplasm skos:exactMatch DOID:1380 endometrial cancer semapv:ManualMappingCuration 2022-01-24 EFO:0004230 endometrial neoplasm skos:exactMatch DOID:2871 endometrial carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0004230 endometrial neoplasm skos:exactMatch DOID:9007715 Endometrial Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0004232 eosinophilic esophagitis skos:exactMatch DOID:13922 eosinophilic esophagitis semapv:ManualMappingCuration 2022-01-24 EFO:0004233 leukopenia skos:exactMatch DOID:615 leukopenia semapv:ManualMappingCuration 2022-01-24 EFO:0004234 erectile dysfunction skos:exactMatch DOID:1875 impotence semapv:ManualMappingCuration 2022-01-24 EFO:0004235 exfoliation syndrome skos:exactMatch DOID:13641 exfoliation syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0004236 focal segmental glomerulosclerosis skos:exactMatch DOID:1312 focal segmental glomerulosclerosis semapv:ManualMappingCuration 2022-01-24 EFO:0004237 Graves disease skos:exactMatch DOID:10719 toxic diffuse goiter semapv:ManualMappingCuration 2022-01-24 EFO:0004237 Graves disease skos:exactMatch DOID:12361 Graves' disease semapv:ManualMappingCuration 2022-01-24 EFO:0004238 hearing loss skos:exactMatch DOID:9004538 Hearing Loss semapv:ManualMappingCuration 2023-12-04 EFO:0004240 heroin dependence skos:exactMatch DOID:9976 heroin dependence semapv:ManualMappingCuration 2022-01-24 EFO:0004242 obsessive-compulsive disorder skos:exactMatch DOID:10933 obsessive-compulsive disorder semapv:ManualMappingCuration 2022-01-24 EFO:0004243 carcinoid tumor skos:exactMatch DOID:9007787 Carcinoid Tumor semapv:ManualMappingCuration 2023-12-04 EFO:0004244 interstitial lung disease skos:exactMatch DOID:3082 interstitial lung disease semapv:ManualMappingCuration 2022-01-24 EFO:0004246 mucocutaneous lymph node syndrome skos:exactMatch DOID:13378 Kawasaki disease semapv:ManualMappingCuration 2022-01-24 EFO:0004247 mood disorder skos:exactMatch DOID:3324 mood disorder semapv:ManualMappingCuration 2022-01-24 EFO:0004248 male infertility skos:exactMatch DOID:12336 male infertility semapv:ManualMappingCuration 2022-01-24 EFO:0004249 meningococcal infection skos:exactMatch DOID:9008366 Meningococcal Infections semapv:ManualMappingCuration 2023-12-04 EFO:0004251 myeloproliferative disorder skos:exactMatch DOID:2226 myeloproliferative neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0004252 nasopharyngeal neoplasm skos:exactMatch DOID:9005207 Nasopharyngeal Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0004253 nephrolithiasis skos:exactMatch DOID:585 nephrolithiasis semapv:ManualMappingCuration 2022-01-24 EFO:0004254 membranous glomerulonephritis skos:exactMatch DOID:10976 membranous glomerulonephritis semapv:ManualMappingCuration 2022-01-24 EFO:0004255 nephrotic syndrome skos:exactMatch DOID:1184 nephrotic syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0004256 neuromyelitis optica skos:exactMatch DOID:8869 neuromyelitis optica semapv:ManualMappingCuration 2022-01-24 EFO:0004257 neurotic disorder skos:exactMatch DOID:4964 neurotic disorder semapv:ManualMappingCuration 2022-01-24 EFO:0004259 osteonecrosis skos:exactMatch DOID:0080008 ischemic bone disease semapv:ManualMappingCuration 2022-01-24 EFO:0004259 osteonecrosis skos:exactMatch DOID:10159 osteonecrosis semapv:ManualMappingCuration 2022-01-24 EFO:0004260 bone disease skos:exactMatch DOID:0080001 bone disease semapv:ManualMappingCuration 2022-01-24 EFO:0004261 osteitis deformans skos:exactMatch DOID:5408 Paget's disease of bone semapv:ManualMappingCuration 2022-01-24 EFO:0004262 panic disorder skos:exactMatch DOID:594 panic disorder semapv:ManualMappingCuration 2022-01-24 EFO:0004263 partial epilepsy skos:exactMatch DOID:2234 focal epilepsy semapv:ManualMappingCuration 2022-01-24 EFO:0004264 vascular disease skos:exactMatch DOID:178 vascular disease semapv:ManualMappingCuration 2022-01-24 EFO:0004265 peripheral arterial disease skos:exactMatch DOID:0050830 peripheral artery disease semapv:ManualMappingCuration 2022-01-24 EFO:0004266 primary ovarian insufficiency skos:exactMatch DOID:5426 primary ovarian insufficiency semapv:ManualMappingCuration 2022-01-24 EFO:0004267 biliary liver cirrhosis skos:exactMatch DOID:12236 primary biliary cholangitis semapv:ManualMappingCuration 2023-12-04 EFO:0004268 sclerosing cholangitis skos:exactMatch DOID:14268 sclerosing cholangitis semapv:ManualMappingCuration 2022-01-24 EFO:0004269 cardiac arrhythmia skos:exactMatch DOID:9000064 Cardiac Arrhythmias semapv:ManualMappingCuration 2023-12-04 EFO:0004270 restless legs syndrome skos:exactMatch DOID:0050425 restless legs syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0004272 anemia (phenotype) skos:exactMatch DOID:2355 anemia semapv:ManualMappingCuration 2022-01-24 EFO:0004273 scoliosis skos:exactMatch DOID:0060249 scoliosis semapv:ManualMappingCuration 2022-01-24 EFO:0004274 gout skos:exactMatch DOID:13189 gout semapv:ManualMappingCuration 2022-01-24 EFO:0004276 Stevens-Johnson syndrome skos:exactMatch DOID:0050426 Stevens-Johnson syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0004277 brain infarction skos:exactMatch DOID:3454 brain infarction semapv:ManualMappingCuration 2022-01-24 EFO:0004278 sudden cardiac arrest skos:exactMatch DOID:9007925 Sudden Cardiac Death semapv:ManualMappingCuration 2023-12-04 EFO:0004280 movement disorder skos:exactMatch DOID:480 movement disease semapv:ManualMappingCuration 2022-01-24 EFO:0004281 testicular neoplasm skos:exactMatch DOID:2998 testicular cancer semapv:ManualMappingCuration 2022-01-24 EFO:0004281 testicular neoplasm skos:exactMatch DOID:5557 testicular germ cell cancer semapv:ManualMappingCuration 2022-01-24 EFO:0004281 testicular neoplasm skos:exactMatch DOID:9004207 Testicular Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0004282 thoracic aortic aneurysm skos:exactMatch DOID:14004 thoracic aortic aneurysm semapv:ManualMappingCuration 2022-01-24 EFO:0004283 goiter skos:exactMatch DOID:12176 goiter semapv:ManualMappingCuration 2022-01-24 EFO:0004284 upper aerodigestive tract neoplasm skos:exactMatch DOID:9006169 Head and Neck Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0004285 albuminuria skos:exactMatch DOID:9001542 Albuminuria semapv:ManualMappingCuration 2023-12-04 EFO:0004286 venous thromboembolism skos:exactMatch DOID:9003505 Venous Thromboembolism semapv:ManualMappingCuration 2023-12-04 EFO:0004287 ventricular fibrillation skos:exactMatch DOID:9000184 Ventricular Fibrillation semapv:ManualMappingCuration 2023-12-04 EFO:0004288 colonic neoplasm skos:exactMatch DOID:9002928 Colonic Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0004289 lymphoid leukemia skos:exactMatch DOID:1037 lymphoid leukemia semapv:ManualMappingCuration 2023-08-20 EFO:0004338 body weight skos:exactMatch DOID:9007633 Body Weight semapv:ManualMappingCuration 2023-12-04 EFO:0004344 birth weight skos:exactMatch DOID:9003996 Birth Weight semapv:ManualMappingCuration 2023-12-04 EFO:0004364 neurobehavioral manifestations skos:exactMatch DOID:9002320 Neurobehavioral Manifestations semapv:ManualMappingCuration 2023-12-04 EFO:0004510 HPV seropositivity skos:exactMatch DOID:9003284 HIV Seropositivity semapv:ManualMappingCuration 2023-12-04 EFO:0004537 neonatal systemic lupus erythematosus skos:exactMatch DOID:9007342 Neonatal Systemic Lupus Erythematosus semapv:ManualMappingCuration 2023-12-04 EFO:0004540 chronic fatigue syndrome skos:exactMatch DOID:8544 chronic fatigue syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0004562 cryptorchidism skos:exactMatch DOID:11383 cryptorchidism semapv:ManualMappingCuration 2022-01-24 EFO:0004593 gestational diabetes skos:exactMatch DOID:11714 gestational diabetes semapv:ManualMappingCuration 2022-01-24 EFO:0004594 childhood eosinophilic esophagitis skos:exactMatch DOID:13922 eosinophilic esophagitis semapv:ManualMappingCuration 2023-12-04 EFO:0004606 gallbladder neoplasm skos:exactMatch DOID:9000011 Gallbladder Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0004607 duodenal ulcer skos:exactMatch DOID:1724 duodenal ulcer semapv:ManualMappingCuration 2022-01-24 EFO:0004608 cystic fibrosis associated meconium ileus skos:exactMatch DOID:9006465 Meconium Ileus semapv:ManualMappingCuration 2023-12-04 EFO:0004610 acute lung injury skos:exactMatch DOID:9004610 Acute Lung Injury semapv:ManualMappingCuration 2023-12-04 EFO:0004616 osteoarthritis, knee skos:exactMatch DOID:9002331 Knee Osteoarthritis semapv:ManualMappingCuration 2023-12-04 EFO:0004683 wet macular degeneration skos:exactMatch DOID:10873 Kuhnt-Junius degeneration semapv:ManualMappingCuration 2022-01-24 EFO:0004686 non-compaction cardiomyopathy skos:exactMatch DOID:0060480 left ventricular noncompaction semapv:ManualMappingCuration 2023-12-04 EFO:0004698 insomnia skos:exactMatch DOID:9004576 Sleep Initiation and Maintenance Disorders semapv:ManualMappingCuration 2023-12-04 EFO:0004699 gambling behaviour skos:exactMatch DOID:12399 pathological gambling semapv:ManualMappingCuration 2023-12-04 EFO:0004701 methamphetamine dependence skos:exactMatch DOID:670 amphetamine abuse semapv:ManualMappingCuration 2023-12-04 EFO:0004705 hypothyroidism skos:exactMatch DOID:1459 hypothyroidism semapv:ManualMappingCuration 2022-01-24 EFO:0004707 infantile hypertrophic pyloric stenosis skos:exactMatch DOID:12638 hypertrophic pyloric stenosis semapv:ManualMappingCuration 2022-01-24 EFO:0004708 nodular sclerosis Hodgkin lymphoma skos:exactMatch DOID:8838 Hodgkin's lymphoma, nodular sclerosis semapv:ManualMappingCuration 2022-01-24 EFO:0004710 pelvic organ prolapse skos:exactMatch DOID:9008409 Pelvic Organ Prolapse semapv:ManualMappingCuration 2023-12-04 EFO:0004711 elephantiasis skos:exactMatch DOID:4976 elephantiasis semapv:ManualMappingCuration 2022-01-24 EFO:0004712 podoconiosis skos:exactMatch DOID:0050138 podoconiosis semapv:ManualMappingCuration 2022-01-24 EFO:0004714 sexual dysfunction skos:exactMatch DOID:1876 sexual dysfunction semapv:ManualMappingCuration 2022-01-24 EFO:0004715 MRI defined brain infarct skos:exactMatch DOID:3454 brain infarction semapv:ManualMappingCuration 2023-12-04 EFO:0004718 vascular dementia skos:exactMatch DOID:8725 vascular dementia semapv:ManualMappingCuration 2022-01-24 EFO:0004719 pemphigus vulgaris skos:exactMatch DOID:0060851 pemphigus vulgaris semapv:ManualMappingCuration 2022-01-24 EFO:0004720 prion disease skos:exactMatch DOID:649 prion disease semapv:ManualMappingCuration 2022-01-24 EFO:0004723 coronary artery calcification skos:exactMatch DOID:9008778 Coronary Artery Calcification semapv:ManualMappingCuration 2023-12-04 EFO:0004772 early onset hypertension skos:exactMatch DOID:9003834 early onset hypertension semapv:ManualMappingCuration 2023-12-04 EFO:0004775 toxic epidermal necrolysis skos:exactMatch DOID:0050426 Stevens-Johnson syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0004777 alcohol withdrawal skos:exactMatch DOID:0060001 withdrawal disorder semapv:ManualMappingCuration 2023-12-04 EFO:0004799 cholelithiasis skos:exactMatch DOID:10211 cholelithiasis semapv:ManualMappingCuration 2022-01-24 EFO:0004807 short sleep skos:exactMatch DOID:9006913 Short Sleep semapv:ManualMappingCuration 2023-12-04 EFO:0004826 anti-neutrophil antibody associated vasculitis skos:exactMatch DOID:9003819 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis semapv:ManualMappingCuration 2023-12-04 EFO:0004859 abdominal aortic artery calcification skos:exactMatch DOID:9000815 Aortic Calcification semapv:ManualMappingCuration 2023-12-04 EFO:0004888 post operative nausea and vomiting skos:exactMatch DOID:9003913 Postoperative Nausea and Vomiting semapv:ManualMappingCuration 2023-12-04 EFO:0004890 anti-social behavior skos:exactMatch DOID:10939 antisocial personality disorder semapv:ManualMappingCuration 2023-12-04 EFO:0004893 testicular dysgenesis syndrome skos:exactMatch DOID:9002260 testicular dysgenesis syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0004895 Tourette syndrome skos:exactMatch DOID:11119 Gilles de la Tourette syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0004906 lymph node metastatic carcinoma skos:exactMatch DOID:9000081 Lymphatic Metastasis semapv:ManualMappingCuration 2023-12-04 EFO:0004911 familial hypercholesterolemia skos:exactMatch DOID:13810 familial hypercholesterolemia semapv:ManualMappingCuration 2022-01-24 EFO:0004952 disease recurrence skos:exactMatch DOID:9002801 Recurrence semapv:ManualMappingCuration 2023-12-04 EFO:0004986 embryonal carcinoma skos:exactMatch DOID:3308 embryonal carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0004991 Myasthenia gravis skos:exactMatch DOID:437 myasthenia gravis semapv:ManualMappingCuration 2022-01-24 EFO:0004992 Otitis media skos:exactMatch DOID:10754 otitis media semapv:ManualMappingCuration 2022-01-24 EFO:0004994 lumbar disc degeneration skos:exactMatch DOID:90 degenerative disc disease semapv:ManualMappingCuration 2022-01-24 EFO:0004996 type 1 diabetes nephropathy skos:exactMatch DOID:9002165 Diabetic Nephropathies semapv:ManualMappingCuration 2023-12-04 EFO:0004997 type 2 diabetes nephropathy skos:exactMatch DOID:9002165 Diabetic Nephropathies semapv:ManualMappingCuration 2023-12-04 EFO:0005039 hippocampal atrophy skos:exactMatch DOID:9004947 hippocampal atrophy semapv:ManualMappingCuration 2023-12-04 EFO:0005044 Leishmaniasis skos:exactMatch DOID:9065 leishmaniasis semapv:ManualMappingCuration 2022-01-24 EFO:0005045 visceral Leishmaniasis skos:exactMatch DOID:9146 visceral leishmaniasis semapv:ManualMappingCuration 2022-01-24 EFO:0005046 cutaneous Leishmaniasis skos:exactMatch DOID:9111 cutaneous leishmaniasis semapv:ManualMappingCuration 2022-01-24 EFO:0005088 testicular carcinoma skos:exactMatch DOID:2998 testicular cancer semapv:ManualMappingCuration 2022-01-24 EFO:0005135 strain skos:exactMatch DOID:9000934 Sprains and Strains semapv:ManualMappingCuration 2023-12-04 EFO:0005137 conduction system disorder skos:exactMatch DOID:10273 heart conduction disease semapv:ManualMappingCuration 2023-12-04 EFO:0005138 acquired long QT syndrome skos:exactMatch DOID:2843 long QT syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0005140 autoimmune disease skos:exactMatch DOID:417 autoimmune disease semapv:ManualMappingCuration 2023-12-04 EFO:0005203 eating disorder skos:exactMatch DOID:8670 eating disorder semapv:ManualMappingCuration 2022-01-24 EFO:0005204 bulimia nervosa skos:exactMatch DOID:12129 bulimia nervosa semapv:ManualMappingCuration 2022-01-24 EFO:0005207 congenital heart disease skos:exactMatch DOID:1682 congenital heart disease semapv:ManualMappingCuration 2022-01-24 EFO:0005220 pulmonary neuroendocrine tumor skos:exactMatch DOID:5410 pulmonary neuroendocrine tumor semapv:ManualMappingCuration 2022-01-24 EFO:0005221 cholangiocarcinoma skos:exactMatch DOID:4947 cholangiocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0005222 avian influenza skos:exactMatch DOID:4492 avian influenza semapv:ManualMappingCuration 2022-01-24 EFO:0005223 acute stress reaction skos:exactMatch DOID:6088 acute stress disorder semapv:ManualMappingCuration 2022-01-24 EFO:0005224 Q fever skos:exactMatch DOID:11100 Q fever semapv:ManualMappingCuration 2022-01-24 EFO:0005225 human african trypanosomiasis skos:exactMatch DOID:10112 sleeping sickness semapv:ManualMappingCuration 2022-01-24 EFO:0005226 swine influenza skos:exactMatch DOID:0050211 swine influenza semapv:ManualMappingCuration 2022-01-24 EFO:0005230 anxiety skos:exactMatch DOID:2030 anxiety disorder semapv:ManualMappingCuration 2023-12-04 EFO:0005232 endometrium adenocarcinoma skos:exactMatch DOID:2870 endometrial adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0005235 primitive neuroectodermal tumor skos:exactMatch DOID:171 neuroectodermal tumor semapv:ManualMappingCuration 2022-01-24 EFO:0005239 aortic valve calcification skos:exactMatch DOID:9004397 Calcification of Aortic Valve semapv:ManualMappingCuration 2023-12-04 EFO:0005240 rhegmatogenous retinal detachment skos:exactMatch DOID:9007109 Rhegmatogenous Retinal Detachment, Autosomal Dominant semapv:ManualMappingCuration 2023-12-04 EFO:0005242 methamphetamine-induced psychosis skos:exactMatch DOID:1742 drug psychosis semapv:ManualMappingCuration 2023-12-04 EFO:0005246 hypersomnia skos:exactMatch DOID:8619 recurrent hypersomnia semapv:ManualMappingCuration 2023-12-04 EFO:0005250 occupation-related stress disorder skos:exactMatch DOID:9004763 Trauma and Stressor Related Disorders semapv:ManualMappingCuration 2023-12-04 EFO:0005251 hypotension skos:exactMatch DOID:9006024 Hypotension semapv:ManualMappingCuration 2023-12-04 EFO:0005252 orthostatic hypotension skos:exactMatch DOID:9005950 Orthostatic Hypotension semapv:ManualMappingCuration 2023-12-04 EFO:0005254 neurally mediated hypotension skos:exactMatch DOID:9006024 Hypotension semapv:ManualMappingCuration 2023-12-04 EFO:0005262 mitral annular calcification skos:exactMatch DOID:9002259 mitral annular calcification semapv:ManualMappingCuration 2023-12-04 EFO:0005269 congenital heart malformation skos:exactMatch DOID:1682 congenital heart disease semapv:ManualMappingCuration 2023-12-04 EFO:0005279 temporomandibular joint disorder skos:exactMatch DOID:9006281 Temporomandibular Joint Disorders semapv:ManualMappingCuration 2023-12-04 EFO:0005287 reticulum cell sarcoma skos:exactMatch DOID:8538 reticulosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0005288 non-small cell lung adenocarcinoma skos:exactMatch DOID:3910 lung adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0005297 Granulomatosis with Polyangiitis skos:exactMatch DOID:12132 granulomatosis with polyangiitis semapv:ManualMappingCuration 2022-01-24 EFO:0005303 sudden infant death syndrome skos:exactMatch DOID:9007 sudden infant death syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0005304 atrial conduction disease skos:exactMatch DOID:9001836 Cardiac Conduction Defect semapv:ManualMappingCuration 2023-12-04 EFO:0005305 atrioventricular node disease skos:exactMatch DOID:0050820 atrioventricular block semapv:ManualMappingCuration 2023-12-04 EFO:0005306 ventricular tachycardia skos:exactMatch DOID:9005141 Ventricular Tachycardia semapv:ManualMappingCuration 2023-12-04 EFO:0005307 torsades de pointes skos:exactMatch DOID:9005444 Torsades de Pointes semapv:ManualMappingCuration 2023-12-04 EFO:0005308 atrial tachycardia skos:exactMatch DOID:9003484 Atrial Tachycardia semapv:ManualMappingCuration 2023-12-04 EFO:0005319 contact dermatitis skos:exactMatch DOID:2773 contact dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:0005320 contact dermatitis due to nickel skos:exactMatch DOID:0040046 nickel allergic contact dermatitis semapv:ManualMappingCuration 2023-12-04 EFO:0005321 molar-incisor hypomineralization skos:exactMatch DOID:693 dental enamel hypoplasia semapv:ManualMappingCuration 2023-12-04 EFO:0005400 chemotherapy-induced alopecia skos:exactMatch DOID:9002102 chemotherapy-induced alopecia semapv:ManualMappingCuration 2023-12-04 EFO:0005406 colorectal adenoma skos:exactMatch DOID:0050860 colorectal adenoma semapv:ManualMappingCuration 2022-01-24 EFO:0005406 colorectal adenoma skos:exactMatch DOID:0050914 large intestine adenoma semapv:ManualMappingCuration 2022-01-24 EFO:0005407 psychosis skos:exactMatch DOID:2468 psychotic disorder semapv:ManualMappingCuration 2022-01-24 EFO:0005410 tooth agenesis skos:exactMatch DOID:0050591 tooth agenesis semapv:ManualMappingCuration 2022-01-24 EFO:0005411 schizoaffective disorder skos:exactMatch DOID:5418 schizoaffective disorder semapv:ManualMappingCuration 2022-01-24 EFO:0005414 airway hyperresponsiveness skos:exactMatch DOID:2841 asthma semapv:ManualMappingCuration 2023-12-04 EFO:0005423 adolescent idiopathic scoliosis skos:exactMatch DOID:0060250 idiopathic scoliosis semapv:ManualMappingCuration 2023-12-04 EFO:0005424 dyslexia skos:exactMatch DOID:4428 dyslexia semapv:ManualMappingCuration 2022-01-24 EFO:0005425 language impairment skos:exactMatch DOID:93 language disorder semapv:ManualMappingCuration 2022-01-24 EFO:0005429 borderline personality disorder symptom skos:exactMatch DOID:10930 borderline personality disorder semapv:ManualMappingCuration 2023-12-04 EFO:0005524 large artery stroke skos:exactMatch DOID:9006885 large artery stroke semapv:ManualMappingCuration 2023-12-04 EFO:0005529 Chagas cardiomyopathy skos:exactMatch DOID:9004422 Chagas Cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:0005531 urticaria skos:exactMatch DOID:1555 urticaria semapv:ManualMappingCuration 2022-01-24 EFO:0005532 angioedema skos:exactMatch DOID:1558 angioedema semapv:ManualMappingCuration 2022-01-24 EFO:0005534 delayed encephalopathy after acute carbon monoxide poisoning skos:exactMatch DOID:936 brain disease semapv:ManualMappingCuration 2023-12-04 EFO:0005537 triple-negative breast cancer skos:exactMatch DOID:0060081 triple-receptor negative breast cancer semapv:ManualMappingCuration 2022-01-24 EFO:0005539 adrenal gland disease skos:exactMatch DOID:9553 adrenal gland disease semapv:ManualMappingCuration 2022-01-24 EFO:0005540 bile duct carcinoma skos:exactMatch DOID:4897 bile duct carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0005541 bone development disease skos:exactMatch DOID:0080006 bone development disease semapv:ManualMappingCuration 2022-01-24 EFO:0005542 botulism skos:exactMatch DOID:11976 botulism semapv:ManualMappingCuration 2022-01-24 EFO:0005543 glioma skos:exactMatch DOID:3070 high grade glioma semapv:ManualMappingCuration 2023-12-04 EFO:0005545 congenital disorder of glycosylation type I skos:exactMatch DOID:0050570 congenital disorder of glycosylation type I semapv:ManualMappingCuration 2022-01-24 EFO:0005546 congenital disorder of glycosylation type II skos:exactMatch DOID:0050571 congenital disorder of glycosylation type II semapv:ManualMappingCuration 2022-01-24 EFO:0005547 dengue disease skos:exactMatch DOID:12205 dengue disease semapv:ManualMappingCuration 2022-01-24 EFO:0005548 developmental disorder of mental health skos:exactMatch DOID:0060037 developmental disorder of mental health semapv:ManualMappingCuration 2022-01-24 EFO:0005549 diphtheria skos:exactMatch DOID:11405 diphtheria semapv:ManualMappingCuration 2022-01-24 EFO:0005551 dysembryoplastic neuroepithelial tumor skos:exactMatch DOID:2679 dysembryoplastic neuroepithelial tumor semapv:ManualMappingCuration 2022-01-24 EFO:0005553 eccrine sweat gland cancer skos:exactMatch DOID:4921 eccrine sweat gland cancer semapv:ManualMappingCuration 2022-01-24 EFO:0005555 gamma chain deficiency skos:exactMatch DOID:0060013 X-linked severe combined immunodeficiency semapv:ManualMappingCuration 2022-01-24 EFO:0005556 Gilbert syndrome skos:exactMatch DOID:2739 Gilbert syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0005557 gum cancer skos:exactMatch DOID:8602 gum cancer semapv:ManualMappingCuration 2022-01-24 EFO:0005558 hemolytic anemia skos:exactMatch DOID:583 hemolytic anemia semapv:ManualMappingCuration 2022-01-24 EFO:0005560 hereditary multiple exostoses skos:exactMatch DOID:206 hereditary multiple exostoses semapv:ManualMappingCuration 2022-01-24 EFO:0005561 histiocytoma skos:exactMatch DOID:4231 histiocytoma semapv:ManualMappingCuration 2022-01-24 EFO:0005562 hydronephrosis skos:exactMatch DOID:11111 hydronephrosis semapv:ManualMappingCuration 2022-01-24 EFO:0005565 janus kinase-3 deficiency skos:exactMatch DOID:0060008 janus kinase-3 deficiency semapv:ManualMappingCuration 2022-01-24 EFO:0005567 malignant peritoneal mesothelioma skos:exactMatch DOID:1788 peritoneal mesothelioma semapv:ManualMappingCuration 2022-01-24 EFO:0005568 methylmalonic aciduria and homocystinuria type cblE skos:exactMatch DOID:0050732 methylmalonic aciduria and homocystinuria type cblE semapv:ManualMappingCuration 2022-01-24 EFO:0005569 microphthalmia skos:exactMatch DOID:10629 microphthalmia semapv:ManualMappingCuration 2022-01-24 EFO:0005570 oral cavity cancer skos:exactMatch DOID:8618 oral cavity cancer semapv:ManualMappingCuration 2022-01-24 EFO:0005571 osteochondrodysplasia skos:exactMatch DOID:2256 osteochondrodysplasia semapv:ManualMappingCuration 2022-01-24 EFO:0005576 pernicious anemia skos:exactMatch DOID:13381 pernicious anemia semapv:ManualMappingCuration 2022-01-24 EFO:0005577 pharynx cancer skos:exactMatch DOID:0060119 pharynx cancer semapv:ManualMappingCuration 2022-01-24 EFO:0005578 pituitary cancer skos:exactMatch DOID:1785 pituitary cancer semapv:ManualMappingCuration 2022-01-24 EFO:0005579 pseudohermaphroditism skos:exactMatch DOID:3765 pseudohermaphroditism semapv:ManualMappingCuration 2022-01-24 EFO:0005580 red color blindness skos:exactMatch DOID:13910 red color blindness semapv:ManualMappingCuration 2022-01-24 EFO:0005581 red-green color blindness skos:exactMatch DOID:13909 red-green color blindness semapv:ManualMappingCuration 2022-01-24 EFO:0005582 renal pelvis carcinoma skos:exactMatch DOID:4919 renal pelvis carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0005583 rickets skos:exactMatch DOID:10609 rickets semapv:ManualMappingCuration 2022-01-24 EFO:0005584 seborrheic keratosis skos:exactMatch DOID:6498 seborrheic keratosis semapv:ManualMappingCuration 2022-01-24 EFO:0005585 shigellosis skos:exactMatch DOID:12385 shigellosis semapv:ManualMappingCuration 2022-01-24 EFO:0005588 small intestine carcinoma skos:exactMatch DOID:4907 small intestine carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0005590 steroid inherited metabolic disorder skos:exactMatch DOID:1701 steroid inherited metabolic disorder semapv:ManualMappingCuration 2022-01-24 EFO:0005591 sweat gland carcinoma skos:exactMatch DOID:5667 sweat gland carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0005592 T-cell leukemia skos:exactMatch DOID:5603 T-cell acute lymphoblastic leukemia semapv:ManualMappingCuration 2023-12-04 EFO:0005592 T-cell leukemia skos:exactMatch DOID:715 T-cell lymphoblastic leukemia/lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:0005593 tetanus skos:exactMatch DOID:11338 tetanus semapv:ManualMappingCuration 2022-01-24 EFO:0005595 toxic encephalopathy skos:exactMatch DOID:3602 toxic encephalopathy semapv:ManualMappingCuration 2022-01-24 EFO:0005596 vitamin metabolic disorder skos:exactMatch DOID:0050718 vitamin metabolic disorder semapv:ManualMappingCuration 2022-01-24 EFO:0005597 methylmalonic aciduria and homocystinuria type cblG skos:exactMatch DOID:0050733 methylmalonic aciduria and homocystinuria type cblG semapv:ManualMappingCuration 2022-01-24 EFO:0005611 opioid dependence skos:exactMatch DOID:2559 opiate dependence semapv:ManualMappingCuration 2022-01-24 EFO:0005612 morphine dependence skos:exactMatch DOID:2560 morphine dependence semapv:ManualMappingCuration 2022-01-24 EFO:0005622 Crohn's colitis skos:exactMatch DOID:0060192 Crohn's colitis semapv:ManualMappingCuration 2022-01-24 EFO:0005623 distal colitis skos:exactMatch DOID:8577 ulcerative colitis semapv:ManualMappingCuration 2023-12-04 EFO:0005624 ileocolitis skos:exactMatch DOID:0060190 ileocolitis semapv:ManualMappingCuration 2022-01-24 EFO:0005625 oral Crohn's disease skos:exactMatch DOID:8778 Crohn's disease semapv:ManualMappingCuration 2023-12-04 EFO:0005626 pancolitis skos:exactMatch DOID:9001672 pancolitis semapv:ManualMappingCuration 2023-12-04 EFO:0005627 perianal Crohn's disease skos:exactMatch DOID:9004680 perianal Crohn's disease semapv:ManualMappingCuration 2023-12-04 EFO:0005628 proctitis skos:exactMatch DOID:3127 proctitis semapv:ManualMappingCuration 2022-01-24 EFO:0005631 rectal adenocarcinoma skos:exactMatch DOID:1996 rectum adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0005649 spondylolysis skos:exactMatch DOID:2300 spondylolysis semapv:ManualMappingCuration 2022-01-24 EFO:0005669 intracerebral hemorrhage skos:exactMatch DOID:9002676 Cerebral Hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0005672 acute coronary syndrome skos:exactMatch DOID:9001686 Acute Coronary Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0005676 Autoimmune Hepatitis skos:exactMatch DOID:2048 autoimmune hepatitis semapv:ManualMappingCuration 2022-01-24 EFO:0005681 Staphylococcus aureus infection skos:exactMatch DOID:9008885 Staphylococcal Infections semapv:ManualMappingCuration 2023-12-04 EFO:0005687 fibromyalgia skos:exactMatch DOID:631 fibromyalgia semapv:ManualMappingCuration 2022-01-24 EFO:0005701 malignant rhabdoid tumour skos:exactMatch DOID:3672 rhabdoid cancer semapv:ManualMappingCuration 2022-01-24 EFO:0005708 renal cell adenocarcinoma skos:exactMatch DOID:4450 renal cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0005716 retinal cancer skos:exactMatch DOID:4645 retinal cancer semapv:ManualMappingCuration 2022-01-24 EFO:0005717 retinoblastoma (nonhereditary) skos:exactMatch DOID:768 retinoblastoma semapv:ManualMappingCuration 2023-12-04 EFO:0005741 infectious disease skos:exactMatch DOID:0050117 disease by infectious agent semapv:ManualMappingCuration 2022-01-24 EFO:0005751 eye allergy skos:exactMatch DOID:1205 allergic disease semapv:ManualMappingCuration 2023-12-04 EFO:0005753 ocular vascular disease skos:exactMatch DOID:178 vascular disease semapv:ManualMappingCuration 2023-12-04 EFO:0005754 parathyroid disease skos:exactMatch DOID:11201 parathyroid gland disease semapv:ManualMappingCuration 2022-01-24 EFO:0005755 rheumatic disease skos:exactMatch DOID:1575 rheumatic disease semapv:ManualMappingCuration 2022-01-24 EFO:0005757 vaginal inflammation skos:exactMatch DOID:2170 vaginitis semapv:ManualMappingCuration 2022-01-24 EFO:0005758 cycloplegia skos:exactMatch DOID:10033 cycloplegia semapv:ManualMappingCuration 2022-01-24 EFO:0005761 lupus nephritis skos:exactMatch DOID:0080162 lupus nephritis semapv:ManualMappingCuration 2022-01-24 EFO:0005762 neuropathic pain skos:exactMatch DOID:9005968 Neuralgia semapv:ManualMappingCuration 2023-12-04 EFO:0005769 calcium metabolic disease skos:exactMatch DOID:10575 calcium metabolism disease semapv:ManualMappingCuration 2022-01-24 EFO:0005771 ovarian disease skos:exactMatch DOID:1100 ovarian disease semapv:ManualMappingCuration 2022-01-24 EFO:0005772 neurodegenerative disease skos:exactMatch DOID:1289 neurodegenerative disease semapv:ManualMappingCuration 2022-01-24 EFO:0005773 retinal detachment skos:exactMatch DOID:5327 retinal detachment semapv:ManualMappingCuration 2022-01-24 EFO:0005774 brain disease skos:exactMatch DOID:936 brain disease semapv:ManualMappingCuration 2022-01-24 EFO:0005775 aortic disease skos:exactMatch DOID:520 aortic disease semapv:ManualMappingCuration 2022-01-24 EFO:0005782 age-related hearing impairment skos:exactMatch DOID:9000307 Presbycusis semapv:ManualMappingCuration 2023-12-04 EFO:0005783 NUT midline carcinoma skos:exactMatch DOID:0060463 NUT midline carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0005784 embryonal neoplasm skos:exactMatch DOID:688 embryonal cancer semapv:ManualMappingCuration 2022-01-24 EFO:0005785 blastoma skos:exactMatch DOID:0070003 blastoma semapv:ManualMappingCuration 2022-01-24 EFO:0005785 blastoma skos:exactMatch DOID:4766 embryoma semapv:ManualMappingCuration 2022-07-21 EFO:0005799 neonatal abstinence syndrome skos:exactMatch DOID:9828 neonatal abstinence syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0005800 substance withdrawal syndrome skos:exactMatch DOID:0060001 withdrawal disorder semapv:ManualMappingCuration 2022-01-24 EFO:0005801 cholesterol embolism skos:exactMatch DOID:1461 cholesterol embolism semapv:ManualMappingCuration 2022-01-24 EFO:0005802 cartilage disease skos:exactMatch DOID:1222 cartilage disease semapv:ManualMappingCuration 2022-01-24 EFO:0005803 hematologic disease skos:exactMatch DOID:74 hematopoietic system disease semapv:ManualMappingCuration 2022-01-24 EFO:0005804 polycythemia skos:exactMatch DOID:8432 polycythemia semapv:ManualMappingCuration 2022-01-24 EFO:0005805 polycythemia due to hypoxia skos:exactMatch DOID:2835 polycythemia due to hypoxia semapv:ManualMappingCuration 2022-01-24 EFO:0005809 type II hypersensitivity reaction disease skos:exactMatch DOID:417 autoimmune disease semapv:ManualMappingCuration 2022-01-24 EFO:0005815 tauopathy skos:exactMatch DOID:680 tauopathy semapv:ManualMappingCuration 2022-01-24 EFO:0005840 Pyruvate kinase hyperactivity skos:exactMatch DOID:9002812 Elevated Adenosine Triphosphate of Erythrocytes semapv:ManualMappingCuration 2023-12-04 EFO:0005846 cryoglobulinemia skos:exactMatch DOID:2917 cryoglobulinemia semapv:ManualMappingCuration 2022-01-24 EFO:0005854 allergic rhinitis skos:exactMatch DOID:4481 allergic rhinitis semapv:ManualMappingCuration 2022-01-24 EFO:0005855 narcolepsy without cataplexy skos:exactMatch DOID:8986 narcolepsy semapv:ManualMappingCuration 2023-12-04 EFO:0005856 arthritis skos:exactMatch DOID:848 arthritis semapv:ManualMappingCuration 2022-01-24 EFO:0005878 vitamin deficiency skos:exactMatch DOID:9004644 Avitaminosis semapv:ManualMappingCuration 2023-12-04 EFO:0005895 ossification of the posterior longitudinal ligament of the spine skos:exactMatch DOID:0060887 ossification of the posterior longitudinal ligament of spine semapv:ManualMappingCuration 2022-01-24 EFO:0005917 generalised epilepsy skos:exactMatch DOID:1827 idiopathic generalized epilepsy semapv:ManualMappingCuration 2022-01-24 EFO:0005917 generalised epilepsy skos:exactMatch DOID:9001793 Generalized Epilepsy semapv:ManualMappingCuration 2023-12-04 EFO:0005922 esophageal squamous cell carcinoma skos:exactMatch DOID:3748 esophagus squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0005923 AVL induced bursal lymphoma skos:exactMatch DOID:9006219 Avian Leukosis semapv:ManualMappingCuration 2023-12-04 EFO:0005924 binge eating skos:exactMatch DOID:9004099 Bulimia semapv:ManualMappingCuration 2023-12-04 EFO:0005932 animal disease skos:exactMatch DOID:9004985 Animal Diseases semapv:ManualMappingCuration 2023-12-04 EFO:0005940 psychotic symptoms skos:exactMatch DOID:2468 psychotic disorder semapv:ManualMappingCuration 2023-12-04 EFO:0005950 head and neck neoplasia skos:exactMatch DOID:9006169 Head and Neck Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0005952 non-Hodgkins lymphoma skos:exactMatch DOID:0060060 non-Hodgkin lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:0006313 chemotherapy-induced oral mucositis skos:exactMatch DOID:9005893 chemotherapy-induced oral mucositis semapv:ManualMappingCuration 2023-12-04 EFO:0006315 thiopurine immunosuppressant-induced pancreatitis skos:exactMatch DOID:4989 pancreatitis semapv:ManualMappingCuration 2023-12-04 EFO:0006318 breast ductal adenocarcinoma skos:exactMatch DOID:3007 breast ductal carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0006321 antidepressant-induced dizziness skos:exactMatch DOID:9006810 Drug-Related Side Effects and Adverse Reactions semapv:ManualMappingCuration 2023-12-04 EFO:0006322 antidepressant-induced sexual dysfunction skos:exactMatch DOID:1876 sexual dysfunction semapv:ManualMappingCuration 2023-12-04 EFO:0006323 antidepressant-induced visual impairment skos:exactMatch DOID:1432 blindness semapv:ManualMappingCuration 2023-12-04 EFO:0006324 antidepressant-induced hearing impairment skos:exactMatch DOID:0070310 drug-induced hearing loss semapv:ManualMappingCuration 2023-12-04 EFO:0006338 pit and fissure surface dental caries skos:exactMatch DOID:216 dental caries semapv:ManualMappingCuration 2023-12-04 EFO:0006339 smooth surface dental caries skos:exactMatch DOID:216 dental caries semapv:ManualMappingCuration 2023-12-04 EFO:0006342 aggressive periodontitis skos:exactMatch DOID:1474 aggressive periodontitis semapv:ManualMappingCuration 2022-01-24 EFO:0006343 chronic periodontitis skos:exactMatch DOID:9001004 Chronic Periodontitis semapv:ManualMappingCuration 2023-12-04 EFO:0006346 severe cutaneous adverse reaction skos:exactMatch DOID:9004739 Cicatrix semapv:ManualMappingCuration 2023-12-04 EFO:0006352 laryngeal squamous cell carcinoma skos:exactMatch DOID:2876 laryngeal squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0006387 cystadenocarcinoma skos:exactMatch DOID:3111 cystadenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0006388 cystic renal cell carcinoma skos:exactMatch DOID:9002228 cystic renal cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0006391 dopaminergic neuroblastoma skos:exactMatch DOID:9005544 dopaminergic neuroblastoma semapv:ManualMappingCuration 2023-12-04 EFO:0006452 malignant epithelioid mesothelioma skos:exactMatch DOID:4489 malignant epithelial mesothelioma semapv:ManualMappingCuration 2022-01-24 EFO:0006460 ovarian adenocarcinoma skos:exactMatch DOID:3713 ovary adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0006461 ovarian granulosa tumour skos:exactMatch DOID:9002210 Granulosa Cell Tumor of the Ovary semapv:ManualMappingCuration 2023-12-04 EFO:0006462 ovarian mucinous adenocarcinoma skos:exactMatch DOID:3606 ovarian mucinous adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0006463 ovarian teratoma skos:exactMatch DOID:5567 ovarian germ cell teratoma semapv:ManualMappingCuration 2022-01-24 EFO:0006471 pancreatic tubular adenocarcinoma skos:exactMatch DOID:3498 pancreatic ductal adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0006475 plasma cell leukemia skos:exactMatch DOID:9513 plasma cell leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0006497 transitional cell papilloma skos:exactMatch DOID:2670 transitional papilloma semapv:ManualMappingCuration 2022-01-24 EFO:0006500 tubular adenocarcinoma skos:exactMatch DOID:4929 tubular adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0006505 chronic bronchitis skos:exactMatch DOID:9007651 Chronic Bronchitis semapv:ManualMappingCuration 2023-12-04 EFO:0006509 Varicella Zoster infection skos:exactMatch DOID:9004668 Varicella Zoster infection semapv:ManualMappingCuration 2023-12-04 EFO:0006510 Herpes Zoster skos:exactMatch DOID:8536 herpes zoster semapv:ManualMappingCuration 2022-01-24 EFO:0006511 Kashin-Beck disease skos:exactMatch DOID:9004038 Kashin-Beck Disease semapv:ManualMappingCuration 2023-12-04 EFO:0006513 hereditary hemochromatosis type 1 skos:exactMatch DOID:0111029 hemochromatosis type 1 semapv:ManualMappingCuration 2022-01-24 EFO:0006519 MMR-related febrile seizures skos:exactMatch DOID:9007956 Febrile Seizures semapv:ManualMappingCuration 2023-12-04 EFO:0006544 bladder transitional cell carcinoma skos:exactMatch DOID:4006 bladder urothelial carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0006545 brain glioblastoma skos:exactMatch DOID:3073 brain glioblastoma multiforme semapv:ManualMappingCuration 2022-01-24 EFO:0006718 ovarian leiomyosarcoma skos:exactMatch DOID:5263 ovary leiomyosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0006719 mesonephric adenocarcinoma skos:exactMatch DOID:4468 clear cell adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0006732 pancreatic adenosquamous carcinoma skos:exactMatch DOID:5637 pancreatic adenosquamous carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0006738 plasmacytoma skos:exactMatch DOID:3721 plasmacytoma semapv:ManualMappingCuration 2022-01-24 EFO:0006740 pulmonary mucoepidermoid carcinoma skos:exactMatch DOID:0050932 lung mucoepidermoid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0006772 undifferentiated carcinoma skos:exactMatch DOID:305 carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0006788 anxiety disorder skos:exactMatch DOID:2030 anxiety disorder semapv:ManualMappingCuration 2022-01-24 EFO:0006789 typhoid fever skos:exactMatch DOID:13258 typhoid fever semapv:ManualMappingCuration 2022-01-24 EFO:0006790 cerebral amyloid angiopathy skos:exactMatch DOID:9246 cerebral amyloid angiopathy semapv:ManualMappingCuration 2022-01-24 EFO:0006791 vascular brain injury skos:exactMatch DOID:9001829 Cerebrovascular Trauma semapv:ManualMappingCuration 2023-12-04 EFO:0006792 Lewy body dementia skos:exactMatch DOID:12217 Lewy body dementia semapv:ManualMappingCuration 2022-01-24 EFO:0006803 vasculitis skos:exactMatch DOID:865 vasculitis semapv:ManualMappingCuration 2022-01-24 EFO:0006812 autoimmune thyroid disease skos:exactMatch DOID:7188 autoimmune thyroiditis semapv:ManualMappingCuration 2022-01-24 EFO:0006813 atrophic thyroiditis skos:exactMatch DOID:7188 autoimmune thyroiditis semapv:ManualMappingCuration 2023-12-04 EFO:0006817 yang deficiency skos:exactMatch DOID:9003352 Yang Deficiency semapv:ManualMappingCuration 2023-12-04 EFO:0006818 stricture skos:exactMatch DOID:9001627 Pathologic Constriction semapv:ManualMappingCuration 2023-12-04 EFO:0006834 septic shock skos:exactMatch DOID:9007601 endotoxin shock semapv:ManualMappingCuration 2023-12-04 EFO:0006835 pyoderma gangrenosum skos:exactMatch DOID:8553 pyoderma gangrenosum semapv:ManualMappingCuration 2022-01-24 EFO:0006856 leucine-induced hypoglycemia skos:exactMatch DOID:0112262 leucine-sensitive hypoglycemia of infancy semapv:ManualMappingCuration 2023-12-04 EFO:0006857 cerebral malaria skos:exactMatch DOID:14069 cerebral malaria semapv:ManualMappingCuration 2022-01-24 EFO:0006858 epithelial neoplasm skos:exactMatch DOID:9006493 Glandular and Epithelial Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0006859 head and neck malignant neoplasia skos:exactMatch DOID:11934 head and neck cancer semapv:ManualMappingCuration 2022-01-24 EFO:0006861 male breast carcinoma skos:exactMatch DOID:1614 male breast cancer semapv:ManualMappingCuration 2022-01-24 EFO:0006861 male breast carcinoma skos:exactMatch DOID:9003042 male breast carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0006862 Meniere disease skos:exactMatch DOID:9849 Meniere's disease semapv:ManualMappingCuration 2022-01-24 EFO:0006865 urgency urinary incontinence skos:exactMatch DOID:9007300 Urinary Incontinence, Urge semapv:ManualMappingCuration 2023-12-04 EFO:0006884 mouth mucous membrane leukoplakia skos:exactMatch DOID:9655 oral mucosa leukoplakia semapv:ManualMappingCuration 2023-12-04 EFO:0006885 leukoplakia of tongue skos:exactMatch DOID:9655 oral mucosa leukoplakia semapv:ManualMappingCuration 2023-12-04 EFO:0006888 vascular malformation skos:exactMatch DOID:9003191 Vascular Malformations semapv:ManualMappingCuration 2023-12-04 EFO:0006889 monoclonal B-cell lymphocytosis skos:exactMatch DOID:9006737 Monoclonal B-Cell Lymphocytosis semapv:ManualMappingCuration 2023-12-04 EFO:0006890 fibrosis skos:exactMatch DOID:9000784 Fibrosis semapv:ManualMappingCuration 2023-12-04 EFO:0006891 breast adenosis skos:exactMatch DOID:5998 microglandular adenosis semapv:ManualMappingCuration 2022-01-24 EFO:0006892 cutaneous precancerous condition skos:exactMatch DOID:0060071 pre-malignant neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:0006911 Chemotherapy-induced nausea and vomiting skos:exactMatch DOID:9005182 Chemotherapy-induced nausea and vomiting semapv:ManualMappingCuration 2023-12-04 EFO:0006912 Radiation-induced nausea and vomiting skos:exactMatch DOID:9000111 Radiation Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0006917 spontaneous preterm birth skos:exactMatch DOID:9003507 Premature Birth semapv:ManualMappingCuration 2023-12-04 EFO:0006926 acquired aplastic anemia skos:exactMatch DOID:12449 aplastic anemia semapv:ManualMappingCuration 2023-12-04 EFO:0006927 severe aplastic anemia skos:exactMatch DOID:12449 aplastic anemia semapv:ManualMappingCuration 2023-12-04 EFO:0006928 motion sickness skos:exactMatch DOID:2951 motion sickness semapv:ManualMappingCuration 2023-12-04 EFO:0006951 ototoxicity skos:exactMatch DOID:0070310 drug-induced hearing loss semapv:ManualMappingCuration 2023-12-04 EFO:0007051 vein graft stenosis skos:exactMatch DOID:9003230 Graft Occlusion, Vascular semapv:ManualMappingCuration 2023-12-04 EFO:0007066 chronic ulcer of skin skos:exactMatch DOID:8549 chronic ulcer of skin semapv:ManualMappingCuration 2022-01-24 EFO:0007067 decubitus ulcer skos:exactMatch DOID:8717 decubitus ulcer semapv:ManualMappingCuration 2022-01-24 EFO:0007068 ulcer of lower limb skos:exactMatch DOID:8529 ulcer of lower limbs semapv:ManualMappingCuration 2022-01-24 EFO:0007126 Acanthamoeba keratitis skos:exactMatch DOID:9001552 Acanthamoeba Keratitis semapv:ManualMappingCuration 2023-12-04 EFO:0007127 actinobacillosis skos:exactMatch DOID:4974 actinobacillosis semapv:ManualMappingCuration 2022-01-24 EFO:0007128 actinomycosis skos:exactMatch DOID:8478 actinomycosis semapv:ManualMappingCuration 2022-01-24 EFO:0007129 acute chest syndrome skos:exactMatch DOID:1584 acute chest syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007130 acute disseminated encephalomyelitis skos:exactMatch DOID:639 acute disseminated encephalomyelitis semapv:ManualMappingCuration 2022-01-24 EFO:0007131 acute hemorrhagic conjunctivitis skos:exactMatch DOID:11227 acute hemorrhagic conjunctivitis semapv:ManualMappingCuration 2022-01-24 EFO:0007132 acute hemorrhagic leukoencephalitis skos:exactMatch DOID:10992 acute hemorrhagic leukoencephalitis semapv:ManualMappingCuration 2022-01-24 EFO:0007133 adenomyoma skos:exactMatch DOID:2609 adenomyoma semapv:ManualMappingCuration 2022-01-24 EFO:0007134 adenosarcoma skos:exactMatch DOID:1974 adenosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0007135 adult-onset Still's disease skos:exactMatch DOID:14256 adult-onset Still's disease semapv:ManualMappingCuration 2022-01-24 EFO:0007136 agnosia skos:exactMatch DOID:4090 agnosia semapv:ManualMappingCuration 2022-01-24 EFO:0007137 AIDS related complex skos:exactMatch DOID:9003393 AIDS-Related Complex semapv:ManualMappingCuration 2023-12-04 EFO:0007138 akinetic mutism skos:exactMatch DOID:4267 akinetic mutism semapv:ManualMappingCuration 2022-01-24 EFO:0007139 aleutian mink disease skos:exactMatch DOID:2934 aleutian mink disease semapv:ManualMappingCuration 2022-01-24 EFO:0007140 allergic bronchopulmonary aspergillosis skos:exactMatch DOID:13166 allergic bronchopulmonary aspergillosis semapv:ManualMappingCuration 2022-01-24 EFO:0007141 allergic conjunctivitis skos:exactMatch DOID:11204 allergic conjunctivitis semapv:ManualMappingCuration 2022-01-24 EFO:0007142 Alphavirus infectious disease skos:exactMatch DOID:9007339 Alphavirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007143 alveolar soft part sarcoma skos:exactMatch DOID:4239 alveolar soft part sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0007144 amebiasis skos:exactMatch DOID:9181 amebiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007145 ancylostomiasis skos:exactMatch DOID:12841 ancylostomiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007146 anisakiasis skos:exactMatch DOID:7033 anisakiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007147 anogenital venereal wart skos:exactMatch DOID:11168 anogenital venereal wart semapv:ManualMappingCuration 2022-01-24 EFO:0007148 aortic valve insufficiency skos:exactMatch DOID:57 aortic valve insufficiency semapv:ManualMappingCuration 2022-01-24 EFO:0007149 appendicitis skos:exactMatch DOID:8337 appendicitis semapv:ManualMappingCuration 2022-01-24 EFO:0007150 Arenaviridae infectious disease skos:exactMatch DOID:3944 Arenaviridae infectious disease semapv:ManualMappingCuration 2022-01-24 EFO:0007151 Arenavirus hemorrhagic fever skos:exactMatch DOID:9006665 Arenavirus hemorrhagic fever semapv:ManualMappingCuration 2023-12-04 EFO:0007152 Arterivirus infectious disease skos:exactMatch DOID:9001975 Arterivirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007153 asbestosis skos:exactMatch DOID:10320 asbestosis semapv:ManualMappingCuration 2022-01-24 EFO:0007154 ascariasis skos:exactMatch DOID:456 ascariasis semapv:ManualMappingCuration 2022-01-24 EFO:0007155 ascaridiasis skos:exactMatch DOID:3108 ascaridiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007156 Ascaridida infectious disease skos:exactMatch DOID:9000395 Ascaridida Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007157 aspergillosis skos:exactMatch DOID:13564 aspergillosis semapv:ManualMappingCuration 2022-01-24 EFO:0007158 Astroviridae infectious disease skos:exactMatch DOID:9002845 Astroviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007159 atrophic rhinitis skos:exactMatch DOID:4731 atrophic rhinitis semapv:ManualMappingCuration 2022-01-24 EFO:0007160 autoimmune thrombocytopenic purpura skos:exactMatch DOID:8924 autoimmune thrombocytopenic purpura semapv:ManualMappingCuration 2022-01-24 EFO:0007161 Avulavirus infectious disease skos:exactMatch DOID:9002653 Avulavirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007162 babesiosis skos:exactMatch DOID:9643 babesiosis semapv:ManualMappingCuration 2022-01-24 EFO:0007163 balantidiasis skos:exactMatch DOID:12386 balantidiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007164 Balkan nephropathy skos:exactMatch DOID:3052 Balkan nephropathy semapv:ManualMappingCuration 2022-01-24 EFO:0007165 Barre-Lieou syndrome skos:exactMatch DOID:6692 Barre-Lieou syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007166 bartonellosis skos:exactMatch DOID:11102 bartonellosis semapv:ManualMappingCuration 2022-01-24 EFO:0007167 Bell's palsy skos:exactMatch DOID:12506 Bell's palsy semapv:ManualMappingCuration 2022-01-24 EFO:0007168 berylliosis skos:exactMatch DOID:10322 berylliosis semapv:ManualMappingCuration 2022-01-24 EFO:0007169 biliary dyskinesia skos:exactMatch DOID:4140 biliary dyskinesia semapv:ManualMappingCuration 2022-01-24 EFO:0007170 bird fancier's lung skos:exactMatch DOID:13891 bird fancier's lung semapv:ManualMappingCuration 2022-01-24 EFO:0007171 black piedra skos:exactMatch DOID:12711 black piedra semapv:ManualMappingCuration 2022-01-24 EFO:0007172 blackwater fever skos:exactMatch DOID:14068 blackwater fever semapv:ManualMappingCuration 2022-01-24 EFO:0007173 Blastocystis hominis infectious disease skos:exactMatch DOID:9008966 Blastocystis Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007174 blastomycosis skos:exactMatch DOID:12663 blastomycosis semapv:ManualMappingCuration 2022-01-24 EFO:0007175 blind loop syndrome skos:exactMatch DOID:10606 blind loop syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007176 bone giant cell tumor skos:exactMatch DOID:4305 bone giant cell tumor semapv:ManualMappingCuration 2022-01-24 EFO:0007177 border disease skos:exactMatch DOID:9005625 Border Disease semapv:ManualMappingCuration 2023-12-04 EFO:0007178 borna disease skos:exactMatch DOID:5154 borna disease semapv:ManualMappingCuration 2022-01-24 EFO:0007179 boutonneuse fever skos:exactMatch DOID:14095 boutonneuse fever semapv:ManualMappingCuration 2022-01-24 EFO:0007180 bovine respiratory disease complex skos:exactMatch DOID:9006345 Bovine Respiratory Disease Complex semapv:ManualMappingCuration 2023-12-04 EFO:0007181 bovine virus diarrhea-mucosal disease skos:exactMatch DOID:9008210 Bovine Virus Diarrhea-Mucosal Disease semapv:ManualMappingCuration 2023-12-04 EFO:0007182 Brill-Zinsser disease skos:exactMatch DOID:11254 Brill-Zinsser disease semapv:ManualMappingCuration 2022-01-24 EFO:0007183 bronchiolitis obliterans skos:exactMatch DOID:2799 bronchiolitis obliterans semapv:ManualMappingCuration 2022-01-24 EFO:0007184 bronchopneumonia skos:exactMatch DOID:12375 bronchopneumonia semapv:ManualMappingCuration 2022-01-24 EFO:0007185 brucellosis skos:exactMatch DOID:11077 brucellosis semapv:ManualMappingCuration 2022-01-24 EFO:0007186 bulbar polio skos:exactMatch DOID:9786 bulbar polio semapv:ManualMappingCuration 2022-01-24 EFO:0007187 bullous pemphigoid skos:exactMatch DOID:8506 bullous pemphigoid semapv:ManualMappingCuration 2022-01-24 EFO:0007188 Bunyaviridae infectious disease skos:exactMatch DOID:9004137 Bunyaviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007189 Caliciviridae infectious disease skos:exactMatch DOID:9006923 Caliciviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007190 campylobacteriosis skos:exactMatch DOID:13622 campylobacteriosis semapv:ManualMappingCuration 2022-01-24 EFO:0007191 cannabis dependence skos:exactMatch DOID:1849 cannabis dependence semapv:ManualMappingCuration 2022-01-24 EFO:0007191 cannabis dependence skos:exactMatch DOID:9505 cannabis abuse semapv:ManualMappingCuration 2022-01-24 EFO:0007192 Caplan's syndrome skos:exactMatch DOID:10326 Caplan's syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007193 carbamoyl phosphate synthetase I deficiency disease skos:exactMatch DOID:9280 carbamoyl phosphate synthetase I deficiency disease semapv:ManualMappingCuration 2022-01-24 EFO:0007194 Cardiovirus infectious disease skos:exactMatch DOID:9004531 Cardiovirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007195 cat-scratch disease skos:exactMatch DOID:11258 cat-scratch disease semapv:ManualMappingCuration 2022-01-24 EFO:0007196 Cauda equina syndrome skos:exactMatch DOID:11577 Cauda equina syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007197 cecal benign neoplasm skos:exactMatch DOID:1517 cecal benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0007198 central nervous system AIDS arteritis skos:exactMatch DOID:9005589 AIDS Arteritis, Central Nervous System semapv:ManualMappingCuration 2023-12-04 EFO:0007199 central nervous system tuberculosis skos:exactMatch DOID:1638 central nervous system tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007200 cerebral toxoplasmosis skos:exactMatch DOID:9001479 Cerebral Toxoplasmosis semapv:ManualMappingCuration 2023-12-04 EFO:0007201 cerebral ventricle cancer skos:exactMatch DOID:3541 cerebral ventricle cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007202 cervical incompetence skos:exactMatch DOID:9681 cervical incompetence semapv:ManualMappingCuration 2022-01-24 EFO:0007203 cervicofacial actinomycosis skos:exactMatch DOID:9008372 Cervicofacial Actinomycosis semapv:ManualMappingCuration 2023-12-04 EFO:0007204 chickenpox skos:exactMatch DOID:8659 chickenpox semapv:ManualMappingCuration 2022-01-24 EFO:0007205 Chlamydia trachomatis infectious disease skos:exactMatch DOID:11263 chlamydia semapv:ManualMappingCuration 2022-01-24 EFO:0007206 choroid plexus cancer skos:exactMatch DOID:3540 choroid plexus cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007207 chromoblastomycosis skos:exactMatch DOID:1562 chromoblastomycosis semapv:ManualMappingCuration 2022-01-24 EFO:0007208 Churg-Strauss syndrome skos:exactMatch DOID:3049 Churg-Strauss syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007210 clonorchiasis skos:exactMatch DOID:13767 clonorchiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007211 coccidioidomycosis skos:exactMatch DOID:13450 coccidioidomycosis semapv:ManualMappingCuration 2022-01-24 EFO:0007212 coccidiosis skos:exactMatch DOID:2113 coccidiosis semapv:ManualMappingCuration 2022-01-24 EFO:0007213 Colorado tick fever skos:exactMatch DOID:4885 Colorado tick fever semapv:ManualMappingCuration 2022-01-24 EFO:0007214 common cold skos:exactMatch DOID:10459 common cold semapv:ManualMappingCuration 2022-01-24 EFO:0007215 composite lymphoma skos:exactMatch DOID:5820 composite lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:0007216 congenital diaphragmatic hernia skos:exactMatch DOID:3827 congenital diaphragmatic hernia semapv:ManualMappingCuration 2022-01-24 EFO:0007217 congenital nystagmus skos:exactMatch DOID:9649 congenital nystagmus semapv:ManualMappingCuration 2022-01-24 EFO:0007218 congenital rubella skos:exactMatch DOID:9001351 Rubella Syndrome, Congenital semapv:ManualMappingCuration 2023-12-04 EFO:0007219 congenital syphilis skos:exactMatch DOID:9856 congenital syphilis semapv:ManualMappingCuration 2022-01-24 EFO:0007220 congenital toxoplasmosis skos:exactMatch DOID:13336 congenital toxoplasmosis semapv:ManualMappingCuration 2022-01-24 EFO:0007221 contagious pleuropneumonia skos:exactMatch DOID:9006515 Contagious Pleuropneumonia semapv:ManualMappingCuration 2023-12-04 EFO:0007222 contagious pustular dermatitis skos:exactMatch DOID:8771 contagious pustular dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:0007223 Coronaviridae infectious disease skos:exactMatch DOID:9001645 Coronaviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007224 coronavirus infectious disease skos:exactMatch DOID:0080599 Coronavirus infectious disease semapv:ManualMappingCuration 2023-12-04 EFO:0007225 cowpox skos:exactMatch DOID:8956 cowpox semapv:ManualMappingCuration 2022-01-24 EFO:0007226 coxsackievirus infectious disease skos:exactMatch DOID:9000220 Coxsackievirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007227 croup skos:exactMatch DOID:9395 croup semapv:ManualMappingCuration 2022-01-24 EFO:0007228 cryptococcal meningitis skos:exactMatch DOID:0080159 cryptococcal meningitis semapv:ManualMappingCuration 2022-01-24 EFO:0007229 cryptococcosis skos:exactMatch DOID:12053 cryptococcosis semapv:ManualMappingCuration 2022-01-24 EFO:0007230 cyclosporiasis skos:exactMatch DOID:12750 cyclosporiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007231 cysticercosis skos:exactMatch DOID:10079 cysticercosis semapv:ManualMappingCuration 2022-01-24 EFO:0007232 cystoisosporiasis skos:exactMatch DOID:2112 cystoisosporiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007233 diaphragm disease skos:exactMatch DOID:10481 diaphragm disease semapv:ManualMappingCuration 2022-01-24 EFO:0007234 dicrocoeliasis skos:exactMatch DOID:1219 dicrocoeliasis semapv:ManualMappingCuration 2022-01-24 EFO:0007235 Dictyocaulus infectious disease skos:exactMatch DOID:9006526 Dictyocaulus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007236 diffuse idiopathic skeletal hyperostosis skos:exactMatch DOID:6652 diffuse idiopathic skeletal hyperostosis semapv:ManualMappingCuration 2022-01-24 EFO:0007237 dipetalonemiasis skos:exactMatch DOID:14422 dipetalonemiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007238 diphyllobothriasis skos:exactMatch DOID:10075 diphyllobothriasis semapv:ManualMappingCuration 2022-01-24 EFO:0007239 dirofilariasis skos:exactMatch DOID:1082 dirofilariasis semapv:ManualMappingCuration 2022-01-24 EFO:0007240 dourine skos:exactMatch DOID:9002271 Dourine semapv:ManualMappingCuration 2023-12-04 EFO:0007241 dracunculiasis skos:exactMatch DOID:14418 dracunculiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007242 Eastern equine encephalitis skos:exactMatch DOID:10841 Eastern equine encephalitis semapv:ManualMappingCuration 2022-01-24 EFO:0007243 Ebola hemorrhagic fever skos:exactMatch DOID:4325 Ebola hemorrhagic fever semapv:ManualMappingCuration 2022-01-24 EFO:0007244 Ebstein anomaly skos:exactMatch DOID:14289 Ebstein anomaly semapv:ManualMappingCuration 2022-01-24 EFO:0007245 echinococcosis skos:exactMatch DOID:1496 echinococcosis semapv:ManualMappingCuration 2022-01-24 EFO:0007246 echinostomiasis skos:exactMatch DOID:1218 echinostomiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007247 echovirus infectious disease skos:exactMatch DOID:9006823 Echovirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007248 egg allergy skos:exactMatch DOID:4377 egg allergy semapv:ManualMappingCuration 2022-01-24 EFO:0007249 emphysematous cholecystitis skos:exactMatch DOID:9765 emphysematous cholecystitis semapv:ManualMappingCuration 2022-01-24 EFO:0007250 encephalitozoonosis skos:exactMatch DOID:4270 encephalitozoonosis semapv:ManualMappingCuration 2022-01-24 EFO:0007251 endocardial fibroelastosis skos:exactMatch DOID:12929 endocardial fibroelastosis semapv:ManualMappingCuration 2022-01-24 EFO:0007252 endodermal sinus tumor skos:exactMatch DOID:1911 endodermal sinus tumor semapv:ManualMappingCuration 2022-01-24 EFO:0007253 Enoplea infectious disease skos:exactMatch DOID:9004683 Enoplida Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007254 enterobiasis skos:exactMatch DOID:7457 enterobiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007255 Enterovirus infectious disease skos:exactMatch DOID:9006549 Enterovirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007256 enzootic pneumonia of calves skos:exactMatch DOID:9006470 Enzootic Pneumonia of Calves semapv:ManualMappingCuration 2023-12-04 EFO:0007257 eosinophilic pneumonia skos:exactMatch DOID:5870 eosinophilic pneumonia semapv:ManualMappingCuration 2022-01-24 EFO:0007258 ephemeral fever skos:exactMatch DOID:9004064 Ephemeral Fever semapv:ManualMappingCuration 2023-12-04 EFO:0007259 epidemic pleurodynia skos:exactMatch DOID:10882 epidemic pleurodynia semapv:ManualMappingCuration 2022-01-24 EFO:0007260 epidural abscess skos:exactMatch DOID:11387 epidural abscess semapv:ManualMappingCuration 2022-01-24 EFO:0007261 epiglottitis skos:exactMatch DOID:9398 epiglottitis semapv:ManualMappingCuration 2022-01-24 EFO:0007262 epilepsy with generalized tonic-clonic seizures skos:exactMatch DOID:7725 epilepsy with generalized tonic-clonic seizures semapv:ManualMappingCuration 2022-01-24 EFO:0007263 equine infectious anemia skos:exactMatch DOID:9003786 Equine Infectious Anemia semapv:ManualMappingCuration 2023-12-04 EFO:0007264 ethmoid sinusitis skos:exactMatch DOID:9507 ethmoid sinusitis semapv:ManualMappingCuration 2022-01-24 EFO:0007265 eumycotic mycetoma skos:exactMatch DOID:13078 eumycotic mycetoma semapv:ManualMappingCuration 2022-01-24 EFO:0007266 eunuchism skos:exactMatch DOID:5003 eunuchism semapv:ManualMappingCuration 2022-01-24 EFO:0007268 fascioloidiasis skos:exactMatch DOID:1217 fascioloidiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007269 Felty's syndrome skos:exactMatch DOID:11042 Felty's syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007270 femoral cancer skos:exactMatch DOID:5546 femoral cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007271 fibroepithelial neoplasm skos:exactMatch DOID:9007017 Fibroepithelial Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0007272 filarial elephantiasis skos:exactMatch DOID:12211 filarial elephantiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007273 Filoviridae infectious disease skos:exactMatch DOID:9006715 Filoviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007274 Flaviviridae infectious disease skos:exactMatch DOID:9008551 Flaviviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007275 focal epithelial hyperplasia skos:exactMatch DOID:5362 focal epithelial hyperplasia semapv:ManualMappingCuration 2022-01-24 EFO:0007276 follicular dendritic cell sarcoma skos:exactMatch DOID:6262 follicular dendritic cell sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0007277 foot and mouth disease skos:exactMatch DOID:9007040 Foot-and-Mouth Disease semapv:ManualMappingCuration 2023-12-04 EFO:0007278 fungal lung infectious disease skos:exactMatch DOID:9005724 Fungal Lung Diseases semapv:ManualMappingCuration 2023-12-04 EFO:0007279 gas gangrene skos:exactMatch DOID:9159 gas gangrene semapv:ManualMappingCuration 2022-01-24 EFO:0007280 gastrointestinal tuberculosis skos:exactMatch DOID:404 gastrointestinal tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007281 geniculate herpes zoster skos:exactMatch DOID:9210 herpes zoster oticus semapv:ManualMappingCuration 2022-01-24 EFO:0007282 genital herpes skos:exactMatch DOID:8704 genital herpes semapv:ManualMappingCuration 2022-01-24 EFO:0007283 geographic tongue skos:exactMatch DOID:1455 geographic tongue semapv:ManualMappingCuration 2022-01-24 EFO:0007284 geotrichosis skos:exactMatch DOID:2832 geotrichosis semapv:ManualMappingCuration 2022-01-24 EFO:0007285 Gerstmann syndrome skos:exactMatch DOID:4969 Gerstmann syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007286 glanders skos:exactMatch DOID:13444 glanders semapv:ManualMappingCuration 2022-01-24 EFO:0007287 glucosephosphate dehydrogenase deficiency skos:exactMatch DOID:2862 glucosephosphate dehydrogenase deficiency semapv:ManualMappingCuration 2022-01-24 EFO:0007289 gnathomiasis skos:exactMatch DOID:11379 gnathomiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007290 Goodpasture syndrome skos:exactMatch DOID:9808 Goodpasture syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007291 granuloma inguinale skos:exactMatch DOID:9113 granuloma inguinale semapv:ManualMappingCuration 2022-01-24 EFO:0007292 Guillain-Barre syndrome skos:exactMatch DOID:12842 Guillain-Barre syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007293 haemonchiasis skos:exactMatch DOID:3332 haemonchiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007294 hand, foot and mouth disease skos:exactMatch DOID:10881 hand, foot and mouth disease semapv:ManualMappingCuration 2022-01-24 EFO:0007295 Hantavirus infectious disease skos:exactMatch DOID:9007533 Hantavirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007296 hantavirus pulmonary syndrome skos:exactMatch DOID:14472 hantavirus pulmonary syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007297 HELLP syndrome skos:exactMatch DOID:13133 HELLP syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007298 hemopericardium skos:exactMatch DOID:11482 hemopericardium semapv:ManualMappingCuration 2022-01-24 EFO:0007299 hemorrhagic fever with renal syndrome skos:exactMatch DOID:11266 Hantavirus hemorrhagic fever with renal syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007300 Henipavirus infectious disease skos:exactMatch DOID:9001406 Henipavirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007301 Hepadnaviridae infectious disease skos:exactMatch DOID:9004126 Hepadnaviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007302 hepatic tuberculosis skos:exactMatch DOID:407 hepatic tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007303 hepatitis E virus infection skos:exactMatch DOID:4411 hepatitis E semapv:ManualMappingCuration 2022-01-24 EFO:0007304 hepatitis D virus infection skos:exactMatch DOID:2047 hepatitis D semapv:ManualMappingCuration 2022-01-24 EFO:0007305 hepatitis A virus infection skos:exactMatch DOID:12549 hepatitis A semapv:ManualMappingCuration 2022-01-24 EFO:0007306 herpangina skos:exactMatch DOID:10883 herpangina semapv:ManualMappingCuration 2022-01-24 EFO:0007307 Herpes simplex virus gingivostomatitis skos:exactMatch DOID:9008291 Herpetic Stomatitis semapv:ManualMappingCuration 2023-12-04 EFO:0007308 Herpes simplex virus keratitis skos:exactMatch DOID:0080158 herpes simplex virus keratitis semapv:ManualMappingCuration 2022-01-24 EFO:0007309 Herpesviridae infectious disease skos:exactMatch DOID:9002834 Herpesviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007310 histoplasmosis skos:exactMatch DOID:1731 histoplasmosis semapv:ManualMappingCuration 2022-01-24 EFO:0007311 HIV enteropathy skos:exactMatch DOID:9002094 HIV Enteropathy semapv:ManualMappingCuration 2023-12-04 EFO:0007312 HIV wasting syndrome skos:exactMatch DOID:9000540 HIV Wasting Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0007313 HIV-associated nephropathy skos:exactMatch DOID:9008782 AIDS-Associated Nephropathy semapv:ManualMappingCuration 2023-12-04 EFO:0007314 hookworm infectious disease skos:exactMatch DOID:9006535 Hookworm Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007315 hordeolum skos:exactMatch DOID:9909 hordeolum semapv:ManualMappingCuration 2022-01-24 EFO:0007316 Human T-lymphotropic virus 1 infectious disease skos:exactMatch DOID:9002670 HTLV-I Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007317 hymenolepiasis skos:exactMatch DOID:10074 hymenolepiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007318 hyperinsulinemic hypoglycemia skos:exactMatch DOID:13317 hyperinsulinemic hypoglycemia semapv:ManualMappingCuration 2022-01-24 EFO:0007319 hyperprolactinemia skos:exactMatch DOID:12700 hyperprolactinemia semapv:ManualMappingCuration 2022-01-24 EFO:0007320 hypodermyiasis skos:exactMatch DOID:12926 hypodermyiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007321 hypopharynx cancer skos:exactMatch DOID:8533 hypopharynx cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007322 idiopathic CD4-positive T-lymphocytopenia skos:exactMatch DOID:3109 idiopathic CD4-positive T-lymphocytopenia semapv:ManualMappingCuration 2022-01-24 EFO:0007323 inclusion body myositis skos:exactMatch DOID:3429 inclusion body myositis semapv:ManualMappingCuration 2022-01-24 EFO:0007324 inclusion conjunctivitis skos:exactMatch DOID:13800 inclusion conjunctivitis semapv:ManualMappingCuration 2022-01-24 EFO:0007325 infectious ectromelia skos:exactMatch DOID:9002137 Infectious Ectromelia semapv:ManualMappingCuration 2023-12-04 EFO:0007326 infectious mononucleosis skos:exactMatch DOID:8568 infectious mononucleosis semapv:ManualMappingCuration 2022-01-24 EFO:0007327 infectious myxomatosis skos:exactMatch DOID:9002518 Infectious Myxomatosis semapv:ManualMappingCuration 2023-12-04 EFO:0007328 influenza skos:exactMatch DOID:8469 influenza semapv:ManualMappingCuration 2022-01-24 EFO:0007328 influenza skos:exactMatch DOID:9001488 Human Influenza semapv:ManualMappingCuration 2023-12-04 EFO:0007329 interdigitating dendritic cell sarcoma skos:exactMatch DOID:7848 interdigitating dendritic cell sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0007330 intestinal cancer skos:exactMatch DOID:10155 intestinal cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007331 islet cell tumor skos:exactMatch DOID:1799 islet cell tumor semapv:ManualMappingCuration 2022-01-24 EFO:0007332 Japanese encephalitis skos:exactMatch DOID:10844 Japanese encephalitis semapv:ManualMappingCuration 2022-01-24 EFO:0007333 jaw cancer skos:exactMatch DOID:1862 jaw cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007335 Kluver-Bucy syndrome skos:exactMatch DOID:2510 Kluver-Bucy syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007336 Langerhans cell sarcoma skos:exactMatch DOID:7146 Langerhans cell sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0007337 laryngeal tuberculosis skos:exactMatch DOID:1583 laryngeal tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007338 Lassa fever skos:exactMatch DOID:9537 Lassa fever semapv:ManualMappingCuration 2022-01-24 EFO:0007339 late congenital syphilis skos:exactMatch DOID:10039 late congenital syphilis semapv:ManualMappingCuration 2022-01-24 EFO:0007340 latent syphilis skos:exactMatch DOID:9531 latent syphilis semapv:ManualMappingCuration 2022-01-24 EFO:0007342 legionellosis skos:exactMatch DOID:10458 legionellosis semapv:ManualMappingCuration 2022-01-24 EFO:0007343 Legionnaires' disease skos:exactMatch DOID:10457 Legionnaires' disease semapv:ManualMappingCuration 2022-01-24 EFO:0007344 leptospirosis skos:exactMatch DOID:2297 leptospirosis semapv:ManualMappingCuration 2022-01-24 EFO:0007345 lipid pneumonia skos:exactMatch DOID:3241 lipid pneumonia semapv:ManualMappingCuration 2022-01-24 EFO:0007346 lipoatrophic diabetes skos:exactMatch DOID:11712 lipoatrophic diabetes mellitus semapv:ManualMappingCuration 2022-01-24 EFO:0007347 listeriosis skos:exactMatch DOID:11573 listeriosis semapv:ManualMappingCuration 2022-01-24 EFO:0007348 louping ill skos:exactMatch DOID:10250 louping ill semapv:ManualMappingCuration 2022-01-24 EFO:0007349 lumpy skin disease skos:exactMatch DOID:9005597 Lumpy Skin Disease semapv:ManualMappingCuration 2023-12-04 EFO:0007350 lymph node tuberculosis skos:exactMatch DOID:4889 lymph node tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007351 lymphangitis skos:exactMatch DOID:9317 lymphangitis semapv:ManualMappingCuration 2022-01-24 EFO:0007352 lymphatic system disease skos:exactMatch DOID:75 lymphatic system disease semapv:ManualMappingCuration 2022-01-24 EFO:0007353 lymphogranuloma venereum skos:exactMatch DOID:13819 lymphogranuloma venereum semapv:ManualMappingCuration 2022-01-24 EFO:0007355 male reproductive organ cancer skos:exactMatch DOID:3856 male reproductive organ cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007356 mandibular cancer skos:exactMatch DOID:2338 mandibular cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007357 mansonelliasis skos:exactMatch DOID:1081 mansonelliasis semapv:ManualMappingCuration 2022-01-24 EFO:0007358 Marburg hemorrhagic fever skos:exactMatch DOID:4327 Marburg hemorrhagic fever semapv:ManualMappingCuration 2022-01-24 EFO:0007359 mast-cell leukemia skos:exactMatch DOID:9254 mast-cell leukemia semapv:ManualMappingCuration 2022-01-24 EFO:0007360 maxillary neoplasm skos:exactMatch DOID:4618 maxillary cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007360 maxillary neoplasm skos:exactMatch DOID:9002201 Maxillary Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0007361 maxillary sinusitis skos:exactMatch DOID:2051 maxillary sinusitis semapv:ManualMappingCuration 2022-01-24 EFO:0007362 mediastinal cancer skos:exactMatch DOID:5559 mediastinal cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007363 meibomian cyst skos:exactMatch DOID:9903 meibomian cyst semapv:ManualMappingCuration 2022-01-24 EFO:0007364 meningoencephalitis skos:exactMatch DOID:10554 meningoencephalitis semapv:ManualMappingCuration 2022-01-24 EFO:0007365 mesoblastic nephroma skos:exactMatch DOID:4773 congenital mesoblastic nephroma semapv:ManualMappingCuration 2023-12-04 EFO:0007366 microsporidiosis skos:exactMatch DOID:4271 microsporidiosis semapv:ManualMappingCuration 2022-01-24 EFO:0007367 middle lobe syndrome skos:exactMatch DOID:2810 middle lobe syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007368 miliary tuberculosis skos:exactMatch DOID:9861 miliary tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007369 milk allergic reaction skos:exactMatch DOID:4376 milk allergy semapv:ManualMappingCuration 2022-01-24 EFO:0007370 milker's nodule skos:exactMatch DOID:8729 milker's nodule semapv:ManualMappingCuration 2022-01-24 EFO:0007371 Miller Fisher syndrome skos:exactMatch DOID:12889 Miller Fisher syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007372 mitral valve stenosis skos:exactMatch DOID:1754 mitral valve stenosis semapv:ManualMappingCuration 2022-01-24 EFO:0007373 mixed cell type cancer skos:exactMatch DOID:154 mixed cell type cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007374 mixed connective tissue disease skos:exactMatch DOID:3492 mixed connective tissue disease semapv:ManualMappingCuration 2022-01-24 EFO:0007375 molluscum contagiosum skos:exactMatch DOID:8867 molluscum contagiosum semapv:ManualMappingCuration 2022-01-24 EFO:0007376 Mononegavirales infectious disease skos:exactMatch DOID:9007829 Mononegavirales Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007377 Morbillivirus infectious disease skos:exactMatch DOID:9003860 Morbillivirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007378 mucinous cystadenocarcinoma skos:exactMatch DOID:3603 mucinous cystadenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0007379 mucocutaneous Leishmaniasis skos:exactMatch DOID:9155 mucocutaneous leishmaniasis semapv:ManualMappingCuration 2022-01-24 EFO:0007380 mucormycosis skos:exactMatch DOID:8485 mucormycosis semapv:ManualMappingCuration 2022-01-24 EFO:0007381 multidrug-resistant tuberculosis skos:exactMatch DOID:401 multidrug-resistant tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007382 multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:ManualMappingCuration 2022-01-24 EFO:0007383 Mumps virus infectious disease skos:exactMatch DOID:10264 mumps semapv:ManualMappingCuration 2022-01-24 EFO:0007384 muscle cancer skos:exactMatch DOID:4045 muscle cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007385 mushroom workers' lung skos:exactMatch DOID:2708 mushroom workers' lung semapv:ManualMappingCuration 2022-01-24 EFO:0007386 Mycobacterium avium complex disease skos:exactMatch DOID:2755 Mycobacterium avium complex disease semapv:ManualMappingCuration 2022-01-24 EFO:0007387 Mycoplasma pneumoniae pneumonia skos:exactMatch DOID:13276 Mycoplasma pneumoniae pneumonia semapv:ManualMappingCuration 2022-01-24 EFO:0007388 myelophthisic anemia skos:exactMatch DOID:2354 myelophthisic anemia semapv:ManualMappingCuration 2022-01-24 EFO:0007389 myiasis skos:exactMatch DOID:11080 myiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007390 necatoriasis skos:exactMatch DOID:2790 necatoriasis semapv:ManualMappingCuration 2022-01-24 EFO:0007391 Nematoda infectious disease skos:exactMatch DOID:9002992 Nematode Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007392 nervous system cancer skos:exactMatch DOID:3093 nervous system cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007393 neuroaspergillosis skos:exactMatch DOID:13565 neuroaspergillosis semapv:ManualMappingCuration 2022-01-24 EFO:0007394 neuroschistosomiasis skos:exactMatch DOID:13722 neuroschistosomiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007395 Newcastle disease skos:exactMatch DOID:2929 Newcastle disease semapv:ManualMappingCuration 2022-01-24 EFO:0007396 Nidovirales infectious disease skos:exactMatch DOID:9008504 Nidovirales Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007397 nocardiosis skos:exactMatch DOID:2312 nocardiosis semapv:ManualMappingCuration 2022-01-24 EFO:0007398 ocular onchocerciasis skos:exactMatch DOID:9007599 Ocular Onchocerciasis semapv:ManualMappingCuration 2023-12-04 EFO:0007399 ocular toxoplasmosis skos:exactMatch DOID:9004945 Ocular Toxoplasmosis semapv:ManualMappingCuration 2023-12-04 EFO:0007400 oesophagostomiasis skos:exactMatch DOID:3983 oesophagostomiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007401 oligohydramnios skos:exactMatch DOID:12215 oligohydramnios semapv:ManualMappingCuration 2022-01-24 EFO:0007402 onchocerciasis skos:exactMatch DOID:11678 onchocerciasis semapv:ManualMappingCuration 2022-01-24 EFO:0007403 ophthalmic herpes zoster skos:exactMatch DOID:9004854 Herpes Zoster Ophthalmicus semapv:ManualMappingCuration 2023-12-04 EFO:0007404 opisthorchiasis skos:exactMatch DOID:13768 opisthorchiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007405 optic neuritis skos:exactMatch DOID:1210 optic neuritis semapv:ManualMappingCuration 2022-01-24 EFO:0007406 oral candidiasis skos:exactMatch DOID:14262 oral candidiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007407 oral tuberculosis skos:exactMatch DOID:402 oral tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007408 orbital cancer skos:exactMatch DOID:4143 orbital cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007409 Ornithine transcarbamylase deficiency skos:exactMatch DOID:9271 ornithine carbamoyltransferase deficiency semapv:ManualMappingCuration 2022-01-24 EFO:0007410 ornithosis skos:exactMatch DOID:11262 ornithosis semapv:ManualMappingCuration 2022-01-24 EFO:0007411 Orthomyxoviridae infectious disease skos:exactMatch DOID:9001499 Orthomyxoviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007412 ossifying fibroma skos:exactMatch DOID:180 ossifying fibroma semapv:ManualMappingCuration 2022-01-24 EFO:0007413 osteitis fibrosa skos:exactMatch DOID:3341 osteitis fibrosa semapv:ManualMappingCuration 2022-01-24 EFO:0007414 ostertagiasis skos:exactMatch DOID:3985 ostertagiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007415 otitis media with effusion skos:exactMatch DOID:9008821 Otitis Media with Effusion semapv:ManualMappingCuration 2023-12-04 EFO:0007416 pancreatic endocrine carcinoma skos:exactMatch DOID:1798 pancreatic endocrine carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0007417 paracoccidioidomycosis skos:exactMatch DOID:12662 paracoccidioidomycosis semapv:ManualMappingCuration 2022-01-24 EFO:0007418 paragonimiasis skos:exactMatch DOID:10699 paragonimiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007419 Paramyxoviridae infectious disease skos:exactMatch DOID:9007244 Paramyxoviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007420 paratyphoid fever skos:exactMatch DOID:3055 paratyphoid fever semapv:ManualMappingCuration 2022-01-24 EFO:0007421 paronychia skos:exactMatch DOID:13117 paronychia semapv:ManualMappingCuration 2022-01-24 EFO:0007422 parotid disease skos:exactMatch DOID:10302 parotid disease semapv:ManualMappingCuration 2022-01-24 EFO:0007423 parotitis skos:exactMatch DOID:10301 parotitis semapv:ManualMappingCuration 2022-01-24 EFO:0007424 pasteurellosis skos:exactMatch DOID:11055 pasteurellosis semapv:ManualMappingCuration 2022-01-24 EFO:0007425 peanut allergic reaction skos:exactMatch DOID:4378 peanut allergy semapv:ManualMappingCuration 2022-01-24 EFO:0007426 pericardial tuberculosis skos:exactMatch DOID:4962 pericardial tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007427 pericarditis skos:exactMatch DOID:1787 pericarditis semapv:ManualMappingCuration 2022-01-24 EFO:0007428 periodic limb movement disorder skos:exactMatch DOID:9207 periodic limb movement disorder semapv:ManualMappingCuration 2022-01-24 EFO:0007429 peritonsillar abscess skos:exactMatch DOID:9002456 Peritonsillar Abscess semapv:ManualMappingCuration 2023-12-04 EFO:0007430 persian gulf syndrome skos:exactMatch DOID:4491 persian gulf syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007431 peste des petits ruminants infectious disease skos:exactMatch DOID:9005375 Peste-des-Petits-Ruminants semapv:ManualMappingCuration 2023-12-04 EFO:0007432 Pestivirus infectious disease skos:exactMatch DOID:9008833 Pestivirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007433 phagocyte bactericidal dysfunction skos:exactMatch DOID:3262 phagocyte bactericidal dysfunction semapv:ManualMappingCuration 2022-01-24 EFO:0007434 pharyngoconjunctival fever skos:exactMatch DOID:13801 pharyngoconjunctival fever semapv:ManualMappingCuration 2022-01-24 EFO:0007436 phencyclidine abuse skos:exactMatch DOID:5062 phencyclidine abuse semapv:ManualMappingCuration 2022-01-24 EFO:0007437 Phlebotomus fever skos:exactMatch DOID:11360 Phlebotomus fever semapv:ManualMappingCuration 2022-01-24 EFO:0007438 Picornaviridae infectious disease skos:exactMatch DOID:9003470 Picornaviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007439 pityriasis versicolor skos:exactMatch DOID:9060 pityriasis versicolor semapv:ManualMappingCuration 2022-01-24 EFO:0007440 placenta accreta skos:exactMatch DOID:4744 placenta accreta semapv:ManualMappingCuration 2022-01-24 EFO:0007441 placenta disease skos:exactMatch DOID:780 placenta disease semapv:ManualMappingCuration 2022-01-24 EFO:0007442 placenta praevia skos:exactMatch DOID:11060 placenta praevia semapv:ManualMappingCuration 2022-01-24 EFO:0007443 placental insufficiency skos:exactMatch DOID:3891 placental insufficiency semapv:ManualMappingCuration 2022-01-24 EFO:0007444 Plasmodium falciparum malaria skos:exactMatch DOID:14067 Plasmodium falciparum malaria semapv:ManualMappingCuration 2022-01-24 EFO:0007445 Plasmodium vivax malaria skos:exactMatch DOID:12978 Plasmodium vivax malaria semapv:ManualMappingCuration 2022-01-24 EFO:0007446 pleural tuberculosis skos:exactMatch DOID:106 pleural tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007447 Pneumocystis infectious disease skos:exactMatch DOID:9007019 Pneumocystis Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007448 pneumocystosis skos:exactMatch DOID:11339 pneumocystosis semapv:ManualMappingCuration 2022-01-24 EFO:0007449 pneumonic pasteurellosis skos:exactMatch DOID:9008774 Pneumonic Pasteurellosis semapv:ManualMappingCuration 2023-12-04 EFO:0007450 poliomyelitis skos:exactMatch DOID:4953 poliomyelitis semapv:ManualMappingCuration 2022-01-24 EFO:0007451 Polyomavirus infectious disease skos:exactMatch DOID:9000386 Polyomavirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007452 post-thrombotic syndrome skos:exactMatch DOID:2364 post-thrombotic syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007453 postpartum depression skos:exactMatch DOID:9478 postpartum depression semapv:ManualMappingCuration 2022-01-24 EFO:0007454 postpoliomyelitis syndrome skos:exactMatch DOID:4952 postpoliomyelitis syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007455 progressive multifocal leukoencephalopathy skos:exactMatch DOID:643 progressive multifocal leukoencephalopathy semapv:ManualMappingCuration 2022-01-24 EFO:0007456 pseudomyxoma peritonei skos:exactMatch DOID:3559 pseudomyxoma peritonei semapv:ManualMappingCuration 2022-01-24 EFO:0007457 pseudorabies skos:exactMatch DOID:9002204 Pseudorabies semapv:ManualMappingCuration 2023-12-04 EFO:0007458 pulmonary blastoma skos:exactMatch DOID:4765 pulmonary blastoma semapv:ManualMappingCuration 2022-01-24 EFO:0007459 pyruvate decarboxylase deficiency skos:exactMatch DOID:3649 pyruvate decarboxylase deficiency semapv:ManualMappingCuration 2022-01-24 EFO:0007460 reactive arthritis skos:exactMatch DOID:6196 reactive arthritis semapv:ManualMappingCuration 2022-01-24 EFO:0007462 REM sleep behavior disorder skos:exactMatch DOID:9091 REM sleep behavior disorder semapv:ManualMappingCuration 2022-01-24 EFO:0007463 renal tuberculosis skos:exactMatch DOID:9733 renal tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007464 Reoviridae infectious disease skos:exactMatch DOID:9006487 Reoviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007465 Respirovirus infectious disease skos:exactMatch DOID:9008225 Respirovirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007466 retroperitoneal cancer skos:exactMatch DOID:5875 retroperitoneal cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007467 Reye syndrome skos:exactMatch DOID:14525 Reye syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007468 Rhabditida infectious disease skos:exactMatch DOID:9001387 Rhabditida Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007469 Rhabdoviridae infectious disease skos:exactMatch DOID:9008603 Rhabdoviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007470 rhinoscleroma skos:exactMatch DOID:11336 rhinoscleroma semapv:ManualMappingCuration 2022-01-24 EFO:0007471 rhinosporidiosis skos:exactMatch DOID:2409 rhinosporidiosis semapv:ManualMappingCuration 2022-01-24 EFO:0007472 rickettsial pneumonia skos:exactMatch DOID:9006977 Rickettsial Pneumonia semapv:ManualMappingCuration 2023-12-04 EFO:0007473 Ritter's disease skos:exactMatch DOID:9063 Ritter's disease semapv:ManualMappingCuration 2022-01-24 EFO:0007474 Roseolovirus infectious disease skos:exactMatch DOID:9002501 Roseolovirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007475 Salmonella gastroenteritis skos:exactMatch DOID:9003664 Salmonella Food Poisoning semapv:ManualMappingCuration 2023-12-04 EFO:0007476 sarcocystosis skos:exactMatch DOID:9640 sarcocystosis semapv:ManualMappingCuration 2022-01-24 EFO:0007477 scarlet fever skos:exactMatch DOID:8596 scarlet fever semapv:ManualMappingCuration 2022-01-24 EFO:0007478 scirrhous adenocarcinoma skos:exactMatch DOID:4024 scirrhous adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0007479 screw worm infectious disease skos:exactMatch DOID:12927 screw worm infectious disease semapv:ManualMappingCuration 2022-01-24 EFO:0007480 scrub typhus skos:exactMatch DOID:13371 scrub typhus semapv:ManualMappingCuration 2022-01-24 EFO:0007481 septicemic plague skos:exactMatch DOID:3481 septicemic plague semapv:ManualMappingCuration 2022-01-24 EFO:0007482 setariasis skos:exactMatch DOID:1079 setariasis semapv:ManualMappingCuration 2022-01-24 EFO:0007484 sick building syndrome skos:exactMatch DOID:2710 sick building syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007485 silicosis skos:exactMatch DOID:10325 silicosis semapv:ManualMappingCuration 2022-01-24 EFO:0007486 sinusitis skos:exactMatch DOID:0050127 sinusitis semapv:ManualMappingCuration 2022-01-24 EFO:0007487 skeletal tuberculosis skos:exactMatch DOID:1639 skeletal tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007488 sparganosis skos:exactMatch DOID:10080 sparganosis semapv:ManualMappingCuration 2022-01-24 EFO:0007489 sphenoid sinusitis skos:exactMatch DOID:10794 sphenoid sinusitis semapv:ManualMappingCuration 2022-01-24 EFO:0007490 spinal stenosis skos:exactMatch DOID:6725 spinal stenosis semapv:ManualMappingCuration 2022-01-24 EFO:0007491 spleen cancer skos:exactMatch DOID:672 spleen cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007492 splenic tuberculosis skos:exactMatch DOID:9305 splenic tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007493 spondylolisthesis skos:exactMatch DOID:6682 spondylolisthesis semapv:ManualMappingCuration 2022-01-24 EFO:0007494 sporotrichosis skos:exactMatch DOID:14484 sporotrichosis semapv:ManualMappingCuration 2022-01-24 EFO:0007495 St. Louis encephalitis skos:exactMatch DOID:10845 St. Louis encephalitis semapv:ManualMappingCuration 2022-01-24 EFO:0007496 staphylococcal pneumonia skos:exactMatch DOID:9001049 Staphylococcal Pneumonia semapv:ManualMappingCuration 2023-12-04 EFO:0007497 staphyloenterotoxemia skos:exactMatch DOID:96 staphyloenterotoxemia semapv:ManualMappingCuration 2022-01-24 EFO:0007498 Stiff-Person syndrome skos:exactMatch DOID:13366 Stiff-Person syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007499 streptococcal pneumonia skos:exactMatch DOID:0040084 Streptococcus pneumonia semapv:ManualMappingCuration 2022-01-24 EFO:0007500 Strongylida infectious disease skos:exactMatch DOID:9003369 Strongylida Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007501 strongyloidiasis skos:exactMatch DOID:10955 strongyloidiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007502 subacute sclerosing panencephalitis skos:exactMatch DOID:8970 subacute sclerosing panencephalitis semapv:ManualMappingCuration 2022-01-24 EFO:0007503 suppurative otitis media skos:exactMatch DOID:11506 suppurative otitis media semapv:ManualMappingCuration 2022-01-24 EFO:0007504 syphilis skos:exactMatch DOID:4166 syphilis semapv:ManualMappingCuration 2022-01-24 EFO:0007505 tabes dorsalis skos:exactMatch DOID:10027 tabes dorsalis semapv:ManualMappingCuration 2022-01-24 EFO:0007506 theileriasis skos:exactMatch DOID:3733 theileriasis semapv:ManualMappingCuration 2022-01-24 EFO:0007507 thoracic outlet syndrome skos:exactMatch DOID:3103 thoracic outlet syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007508 tick infestation skos:exactMatch DOID:4109 tick infestation semapv:ManualMappingCuration 2022-01-24 EFO:0007509 tick paralysis skos:exactMatch DOID:11285 tick paralysis semapv:ManualMappingCuration 2022-01-24 EFO:0007510 tinea skos:exactMatch DOID:8913 dermatophytosis semapv:ManualMappingCuration 2023-12-04 EFO:0007511 tinea favosa skos:exactMatch DOID:4336 tinea favosa semapv:ManualMappingCuration 2022-01-24 EFO:0007512 tinea pedis skos:exactMatch DOID:12403 tinea pedis semapv:ManualMappingCuration 2022-01-24 EFO:0007513 Togaviridae infectious disease skos:exactMatch DOID:9002987 Togaviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007514 Torovirus infectious disease skos:exactMatch DOID:9000501 Torovirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:0007515 toxascariasis skos:exactMatch DOID:3107 toxascariasis semapv:ManualMappingCuration 2022-01-24 EFO:0007516 toxocariasis skos:exactMatch DOID:9790 toxocariasis semapv:ManualMappingCuration 2022-01-24 EFO:0007517 toxoplasmosis skos:exactMatch DOID:9965 toxoplasmosis semapv:ManualMappingCuration 2022-01-24 EFO:0007518 tracheitis skos:exactMatch DOID:9392 tracheitis semapv:ManualMappingCuration 2022-01-24 EFO:0007519 trench fever skos:exactMatch DOID:11101 trench fever semapv:ManualMappingCuration 2022-01-24 EFO:0007520 trichinosis skos:exactMatch DOID:9784 trichinosis semapv:ManualMappingCuration 2022-01-24 EFO:0007521 Trichomonas vaginitis skos:exactMatch DOID:0050269 Trichomonas vaginalis trichomoniasis semapv:ManualMappingCuration 2022-01-24 EFO:0007522 trichostrongyloidiasis skos:exactMatch DOID:1255 trichostrongyloidiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007523 trichostrongylosis skos:exactMatch DOID:1254 trichostrongylosis semapv:ManualMappingCuration 2022-01-24 EFO:0007524 trichuriasis skos:exactMatch DOID:1252 trichuriasis semapv:ManualMappingCuration 2022-01-24 EFO:0007525 tricuspid valve stenosis skos:exactMatch DOID:4078 tricuspid valve stenosis semapv:ManualMappingCuration 2022-01-24 EFO:0007526 trombiculiasis skos:exactMatch DOID:8399 trombiculiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007527 tropical spastic paraparesis skos:exactMatch DOID:321 tropical spastic paraparesis semapv:ManualMappingCuration 2022-01-24 EFO:0007528 tuberculous empyema skos:exactMatch DOID:14305 tuberculous empyema semapv:ManualMappingCuration 2022-01-24 EFO:0007529 tuberculous peritonitis skos:exactMatch DOID:9801 tuberculous peritonitis semapv:ManualMappingCuration 2022-01-24 EFO:0007530 urinary schistosomiasis skos:exactMatch DOID:1394 urinary schistosomiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007531 urogenital tuberculosis skos:exactMatch DOID:2149 urogenital tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:0007532 uterine corpus cancer skos:exactMatch DOID:9460 uterine corpus cancer semapv:ManualMappingCuration 2022-01-24 EFO:0007533 vasomotor rhinitis skos:exactMatch DOID:4730 vasomotor rhinitis semapv:ManualMappingCuration 2022-01-24 EFO:0007534 Venezuelan equine encephalitis skos:exactMatch DOID:9584 Venezuelan equine encephalitis semapv:ManualMappingCuration 2022-01-24 EFO:0007535 verrucous carcinoma skos:exactMatch DOID:3737 verrucous carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0007536 vesicoureteral reflux skos:exactMatch DOID:9620 vesicoureteral reflux semapv:ManualMappingCuration 2022-01-24 EFO:0007537 vestibular neuronitis skos:exactMatch DOID:12683 vestibular neuronitis semapv:ManualMappingCuration 2022-01-24 EFO:0007538 viral encephalitis skos:exactMatch DOID:646 viral encephalitis semapv:ManualMappingCuration 2022-01-24 EFO:0007539 viral hemorrhagic septicemia skos:exactMatch DOID:9004664 Viral Hemorrhagic Septicemia semapv:ManualMappingCuration 2023-12-04 EFO:0007540 animal viral hepatitis skos:exactMatch DOID:1884 viral hepatitis semapv:ManualMappingCuration 2022-01-24 EFO:0007540 animal viral hepatitis skos:exactMatch DOID:9007899 Animal Viral Hepatitis semapv:ManualMappingCuration 2023-12-04 EFO:0007541 viral pneumonia skos:exactMatch DOID:10533 viral pneumonia semapv:ManualMappingCuration 2022-01-24 EFO:0007542 visna skos:exactMatch DOID:9004261 Visna semapv:ManualMappingCuration 2023-12-04 EFO:0007543 vulvovaginal candidiasis skos:exactMatch DOID:2272 vulvovaginal candidiasis semapv:ManualMappingCuration 2022-01-24 EFO:0007544 Waterhouse-Friderichsen syndrome skos:exactMatch DOID:9931 Waterhouse-Friderichsen syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007545 West Nile encephalitis skos:exactMatch DOID:2365 West Nile encephalitis semapv:ManualMappingCuration 2022-01-24 EFO:0007546 Western equine encephalitis skos:exactMatch DOID:10843 Western equine encephalitis semapv:ManualMappingCuration 2022-01-24 EFO:0007547 Wissler's syndrome skos:exactMatch DOID:3047 Wissler-Fanconi syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007548 yaws skos:exactMatch DOID:10371 yaws semapv:ManualMappingCuration 2022-01-24 EFO:0007549 Zollinger-Ellison Syndrome skos:exactMatch DOID:0050782 Zollinger-Ellison syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0007625 asthenia skos:exactMatch DOID:9003000 Asthenia semapv:ManualMappingCuration 2023-12-04 EFO:0007634 major depressive episode skos:exactMatch DOID:1470 major depressive disorder semapv:ManualMappingCuration 2023-12-04 EFO:0007685 trichloroethylene-induced hypersensitivity skos:exactMatch DOID:9008261 Chemically-Induced Disorders semapv:ManualMappingCuration 2023-12-04 EFO:0007686 surgical shock skos:exactMatch DOID:9000618 Surgical Shock semapv:ManualMappingCuration 2023-12-04 EFO:0007879 petaloid toenail skos:exactMatch DOID:9002206 Double Nail for Fifth Toe semapv:ManualMappingCuration 2023-12-04 EFO:0007887 autosomal dominant compelling helio-ophthalmic outburst syndrome skos:exactMatch DOID:9003596 Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0007926 hyper-inflammatory immune response skos:exactMatch DOID:2914 immune system disease semapv:ManualMappingCuration 2023-12-04 EFO:0007940 chronic venous insufficiency skos:exactMatch DOID:0050853 chronic venous insufficiency semapv:ManualMappingCuration 2023-12-04 EFO:0007948 HIV-associated neurocognitive disorder skos:exactMatch DOID:9004086 AIDS Dementia Complex semapv:ManualMappingCuration 2023-12-04 EFO:0007949 acute-on-chronic liver failure skos:exactMatch DOID:9000238 Acute-On-Chronic Liver Failure semapv:ManualMappingCuration 2023-12-04 EFO:0007982 mild neurocognitive disorder skos:exactMatch DOID:0080832 mild cognitive impairment semapv:ManualMappingCuration 2023-12-04 EFO:0008008 lower urinary tract symptom skos:exactMatch DOID:9003962 Lower Urinary Tract Symptoms semapv:ManualMappingCuration 2023-12-04 EFO:0008349 thiazide-induced hyponatremia skos:exactMatch DOID:9006635 Hyponatremia semapv:ManualMappingCuration 2023-12-04 EFO:0008462 pregnancy induced alloimmunization skos:exactMatch DOID:4175 Rh isoimmunization semapv:ManualMappingCuration 2023-12-04 EFO:0008490 ampulla of Vater adenocarcinoma skos:exactMatch DOID:3502 ampulla of Vater adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0008491 atypical ductal hyperplasia skos:exactMatch DOID:0060074 ductal carcinoma in situ semapv:ManualMappingCuration 2023-12-04 EFO:0008492 breast hyperplasia skos:exactMatch DOID:9000937 breast hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:0008493 cerebral small vessel disease skos:exactMatch DOID:0112313 brain small vessel disease semapv:ManualMappingCuration 2023-12-04 EFO:0008495 childhood supratentorial ependymoma skos:exactMatch DOID:7502 childhood supratentorial ependymoma semapv:ManualMappingCuration 2022-01-24 EFO:0008496 chronic hepatitis skos:exactMatch DOID:9008510 Chronic Hepatitis semapv:ManualMappingCuration 2023-12-04 EFO:0008497 chronic lung allograft dysfunction skos:exactMatch DOID:9007461 Chronic Lung Allograft Dysfunction semapv:ManualMappingCuration 2023-12-04 EFO:0008498 clear cell sarcoma skos:exactMatch DOID:4233 clear cell sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:0008499 DNA repair deficiency skos:exactMatch DOID:9008840 DNA Repair-Deficiency Disorders semapv:ManualMappingCuration 2023-12-04 EFO:0008500 ductal breast hyperplasia skos:exactMatch DOID:9004693 ductal breast hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:0008502 gastric non-cardia carcinoma skos:exactMatch DOID:5517 stomach carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0008503 hepatitis B virus induced hepatocellular carcinoma skos:exactMatch DOID:684 hepatocellular carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0008504 hepatitis C virus induced hepatocellular carcinoma skos:exactMatch DOID:684 hepatocellular carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0008505 hepatitis virus-related hepatocellular carcinoma skos:exactMatch DOID:684 hepatocellular carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0008506 hyperparathyroidism skos:exactMatch DOID:13543 hyperparathyroidism semapv:ManualMappingCuration 2022-01-24 EFO:0008507 interstitial cystitis skos:exactMatch DOID:13949 interstitial cystitis semapv:ManualMappingCuration 2022-01-24 EFO:0008507 interstitial cystitis skos:exactMatch DOID:1678 chronic interstitial cystitis semapv:ManualMappingCuration 2022-01-24 EFO:0008508 large cell medulloblastoma skos:exactMatch DOID:3857 large cell medulloblastoma semapv:ManualMappingCuration 2022-01-24 EFO:0008509 lobular breast carcinoma skos:exactMatch DOID:0050938 breast lobular carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0008510 Lyme disease skos:exactMatch DOID:11729 Lyme disease semapv:ManualMappingCuration 2022-01-24 EFO:0008511 metopic craniosynostosis skos:exactMatch DOID:9007261 Nonsyndromic Trigonocephaly semapv:ManualMappingCuration 2023-12-04 EFO:0008512 micropapillary urothelial carcinoma skos:exactMatch DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0008514 neurofibromatosis skos:exactMatch DOID:8712 neurofibromatosis semapv:ManualMappingCuration 2022-01-24 EFO:0008515 nodular melanoma skos:exactMatch DOID:10047 nodular malignant melanoma semapv:ManualMappingCuration 2022-01-24 EFO:0008516 non-functioning pituitary adenoma skos:exactMatch DOID:5715 functionless pituitary adenoma semapv:ManualMappingCuration 2022-01-24 EFO:0008517 oral lichen planus skos:exactMatch DOID:9003036 Oral Lichen Planus semapv:ManualMappingCuration 2023-12-04 EFO:0008518 polymyalgia rheumatica skos:exactMatch DOID:853 polymyalgia rheumatica semapv:ManualMappingCuration 2022-01-24 EFO:0008519 primary hyperparathyroidism skos:exactMatch DOID:11202 primary hyperparathyroidism semapv:ManualMappingCuration 2022-01-24 EFO:0008520 primary progressive multiple sclerosis skos:exactMatch DOID:0050784 primary progressive multiple sclerosis semapv:ManualMappingCuration 2022-01-24 EFO:0008521 rhinitis skos:exactMatch DOID:4483 rhinitis semapv:ManualMappingCuration 2022-01-24 EFO:0008522 secondary progressive multiple sclerosis skos:exactMatch DOID:0050783 secondary progressive multiple sclerosis semapv:ManualMappingCuration 2022-01-24 EFO:0008524 small cell carcinoma skos:exactMatch DOID:0050685 small cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0008525 spinal muscular atrophy skos:exactMatch DOID:12377 spinal muscular atrophy semapv:ManualMappingCuration 2022-01-24 EFO:0008526 status epilepticus skos:exactMatch DOID:1824 status epilepticus semapv:ManualMappingCuration 2022-01-24 EFO:0008527 steatosis skos:exactMatch DOID:9455 lipid storage disease semapv:ManualMappingCuration 2023-12-04 EFO:0008528 urothelial carcinoma skos:exactMatch DOID:2671 transitional cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0008532 clinically amyopathic dermatomyositis skos:exactMatch DOID:9005507 Amyopathic Dermatomyositis semapv:ManualMappingCuration 2023-12-04 EFO:0008533 dyspepsia skos:exactMatch DOID:9001204 Dyspepsia semapv:ManualMappingCuration 2023-12-04 EFO:0008536 anti-centromere-antibody-positive systemic scleroderma skos:exactMatch DOID:418 systemic scleroderma semapv:ManualMappingCuration 2023-12-04 EFO:0008537 anti-topoisomerase-I-antibody-positive systemic scleroderma skos:exactMatch DOID:418 systemic scleroderma semapv:ManualMappingCuration 2023-12-04 EFO:0008545 Malignant Breast Phyllodes Tumor skos:exactMatch DOID:3016 breast malignant phyllodes tumor semapv:ManualMappingCuration 2022-01-24 EFO:0008546 poisoning skos:exactMatch DOID:9000046 Poisoning semapv:ManualMappingCuration 2023-12-04 EFO:0008549 digestive system neoplasm skos:exactMatch DOID:9004351 Digestive System Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0008550 Hepatobiliary Neoplasm skos:exactMatch DOID:0080355 hepatobiliary system cancer semapv:ManualMappingCuration 2023-04-17 EFO:0008550 Hepatobiliary Neoplasm skos:exactMatch DOID:3117 hepatobiliary benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0008553 femur fracture skos:exactMatch DOID:9008763 Femoral Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0008555 Methicillin-Resistant Staphylococcus Aureus Infection skos:exactMatch DOID:9007315 Methicillin-Resistant Staphylococcus Aureus Infection semapv:ManualMappingCuration 2023-12-04 EFO:0008556 Methicillin-Resistant Staphylococcus Aureus Pneumonia skos:exactMatch DOID:9001049 Staphylococcal Pneumonia semapv:ManualMappingCuration 2023-12-04 EFO:0008557 Methicillin-Susceptible Staphylococcus Aureus Infection skos:exactMatch DOID:9008885 Staphylococcal Infections semapv:ManualMappingCuration 2023-12-04 EFO:0008558 Vancomycin-Resistant Staphylococcus Aureus Infection skos:exactMatch DOID:9008885 Staphylococcal Infections semapv:ManualMappingCuration 2023-12-04 EFO:0008559 American trypanosomiasis skos:exactMatch DOID:12140 Chagas disease semapv:ManualMappingCuration 2022-01-24 EFO:0008560 female infertility skos:exactMatch DOID:9007456 Female Infertility semapv:ManualMappingCuration 2023-12-04 EFO:0008561 diaphragmatic hernia skos:exactMatch DOID:9009073 Diaphragmatic Hernia semapv:ManualMappingCuration 2023-12-04 EFO:0008568 Sleep Disorder skos:exactMatch DOID:535 sleep disorder semapv:ManualMappingCuration 2023-12-04 EFO:0008569 Thiamine deficiency skos:exactMatch DOID:0070313 thiamine deficiency disease semapv:ManualMappingCuration 2023-12-04 EFO:0008570 Vitamin B3 deficiency skos:exactMatch DOID:8457 pellagra semapv:ManualMappingCuration 2023-12-04 EFO:0008571 viral conjunctivitis skos:exactMatch DOID:9000608 Viral Conjunctivitis semapv:ManualMappingCuration 2023-12-04 EFO:0008572 malnutrition skos:exactMatch DOID:9005695 Malnutrition semapv:ManualMappingCuration 2023-12-04 EFO:0008573 alcoholic liver disease skos:exactMatch DOID:9001285 Alcoholic Liver Diseases semapv:ManualMappingCuration 2023-12-04 EFO:0008574 gangrene skos:exactMatch DOID:9001699 gangrene semapv:ManualMappingCuration 2023-12-04 EFO:0008576 Spinal Osteochondrosis skos:exactMatch DOID:9008900 Spinal Osteochondrosis semapv:ManualMappingCuration 2023-12-04 EFO:0008577 Juvenile Osteochondrosis skos:exactMatch DOID:8125 osteochondrosis semapv:ManualMappingCuration 2023-12-04 EFO:0008581 salivary gland disease skos:exactMatch DOID:10854 salivary gland disease semapv:ManualMappingCuration 2022-01-24 EFO:0008583 acute myocardial infarction skos:exactMatch DOID:9408 acute myocardial infarction semapv:ManualMappingCuration 2022-01-24 EFO:0008585 ST Elevation Myocardial Infarction skos:exactMatch DOID:9000740 ST Elevation Myocardial Infarction semapv:ManualMappingCuration 2023-12-04 EFO:0008586 Non-ST Elevation Myocardial Infarction skos:exactMatch DOID:9004391 Non-ST Elevated Myocardial Infarction semapv:ManualMappingCuration 2023-12-04 EFO:0008587 gender identity disorder skos:exactMatch DOID:1234 gender incongruence semapv:ManualMappingCuration 2022-01-24 EFO:0008588 peritonitis skos:exactMatch DOID:8283 peritonitis semapv:ManualMappingCuration 2022-01-24 EFO:0008590 Status Asthmaticus skos:exactMatch DOID:9362 status asthmaticus semapv:ManualMappingCuration 2022-01-24 EFO:0008597 anti-p200 pemphigoid skos:exactMatch DOID:8506 bullous pemphigoid semapv:ManualMappingCuration 2023-12-04 EFO:0008598 autoimmune bullous skin disease skos:exactMatch DOID:8502 bullous skin disease semapv:ManualMappingCuration 2022-01-24 EFO:0008598 autoimmune bullous skin disease skos:exactMatch DOID:8506 bullous pemphigoid semapv:ManualMappingCuration 2023-12-04 EFO:0008601 pemphigus foliaceus skos:exactMatch DOID:0080850 pemphigus foliaceus semapv:ManualMappingCuration 2023-03-17 EFO:0008602 paraneoplastic pemphigus skos:exactMatch DOID:0080852 paraneoplastic pemphigus semapv:ManualMappingCuration 2023-03-17 EFO:0008603 pemphigus erythematosus skos:exactMatch DOID:9004056 pemphigus erythematosus semapv:ManualMappingCuration 2023-12-04 EFO:0008604 IgA pemphigus skos:exactMatch DOID:0080851 IgA pemphigus semapv:ManualMappingCuration 2023-12-04 EFO:0008605 IgG/IgA pemphigus skos:exactMatch DOID:9182 pemphigus semapv:ManualMappingCuration 2023-12-04 EFO:0008606 pemphigus herpetiformis skos:exactMatch DOID:9001165 pemphigus herpetiformis semapv:ManualMappingCuration 2023-12-04 EFO:0008607 drug-induced pemphigus skos:exactMatch DOID:9182 pemphigus semapv:ManualMappingCuration 2023-12-04 EFO:0008608 radiotherapy-induced pemphigus skos:exactMatch DOID:9182 pemphigus semapv:ManualMappingCuration 2023-12-04 EFO:0008610 ocular cicatricial pemphigoid skos:exactMatch DOID:11656 cicatricial pemphigoid semapv:ManualMappingCuration 2023-12-04 EFO:0008611 localised cicatricial pemphigoid skos:exactMatch DOID:11656 cicatricial pemphigoid semapv:ManualMappingCuration 2023-12-04 EFO:0008612 vegetating cicatricial pemphigoid skos:exactMatch DOID:11656 cicatricial pemphigoid semapv:ManualMappingCuration 2023-12-04 EFO:0008613 pemphigus vegetans skos:exactMatch DOID:9006491 pemphigus vegetans semapv:ManualMappingCuration 2023-12-04 EFO:0008614 Iodine Deficiency Hypothyroidism skos:exactMatch DOID:5083 iodine hypothyroidism semapv:ManualMappingCuration 2023-12-04 EFO:0008615 Cystic Kidney Disease skos:exactMatch DOID:2975 cystic kidney disease semapv:ManualMappingCuration 2022-01-24 EFO:0008616 Complex Cyst of Kidney skos:exactMatch DOID:2975 cystic kidney disease semapv:ManualMappingCuration 2023-12-04 EFO:0008618 Medullary Cystic Kidney Disease Type II skos:exactMatch DOID:9007051 Autosomal Dominant Tubulointerstitial Kidney Disease 1 semapv:ManualMappingCuration 2023-12-04 EFO:0008619 Simple Cyst of Kidney skos:exactMatch DOID:2975 cystic kidney disease semapv:ManualMappingCuration 2023-12-04 EFO:0008620 Polycystic Kidney Disease skos:exactMatch DOID:0080322 polycystic kidney disease semapv:ManualMappingCuration 2023-03-06 EFO:0008621 Microcystic Renal Disease skos:exactMatch DOID:0080322 polycystic kidney disease semapv:ManualMappingCuration 2023-12-04 EFO:0008622 female genital tract polyp skos:exactMatch DOID:229 female reproductive system disease semapv:ManualMappingCuration 2023-12-04 EFO:0008623 dysthymic disorder skos:exactMatch DOID:12139 dysthymic disorder semapv:ManualMappingCuration 2022-01-24 EFO:0008624 vitreous body disease skos:exactMatch DOID:9720 vitreous disease semapv:ManualMappingCuration 2023-12-04 EFO:0008625 vitreous prolapse skos:exactMatch DOID:9000818 vitreous prolapse semapv:ManualMappingCuration 2023-12-04 EFO:0008626 vitreous hemorrhage skos:exactMatch DOID:9007302 Vitreous Hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0008627 eye hemorrhage skos:exactMatch DOID:9004938 Eye Hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0008997 synovitis skos:exactMatch DOID:2703 synovitis semapv:ManualMappingCuration 2022-01-24 EFO:0008998 acute synovitis skos:exactMatch DOID:9003670 acute synovitis semapv:ManualMappingCuration 2023-12-04 EFO:0009000 Mast Cell Neoplasm skos:exactMatch DOID:3664 mast cell neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0009001 Mastocytosis skos:exactMatch DOID:350 mastocytosis semapv:ManualMappingCuration 2022-01-24 EFO:0009002 splenic disease skos:exactMatch DOID:2529 splenic disease semapv:ManualMappingCuration 2022-01-24 EFO:0009003 ovarian dysfunction skos:exactMatch DOID:1414 ovarian dysfunction semapv:ManualMappingCuration 2022-01-24 EFO:0009004 hyperestrogenism skos:exactMatch DOID:14336 estrogen excess semapv:ManualMappingCuration 2022-01-24 EFO:0009005 premature menopause skos:exactMatch DOID:10787 premature menopause semapv:ManualMappingCuration 2022-01-24 EFO:0009006 hyperandrogenism skos:exactMatch DOID:11613 hyperandrogenism semapv:ManualMappingCuration 2023-12-04 EFO:0009007 Adrenal Hyperandrogenism skos:exactMatch DOID:0090139 cortisone reductase deficiency semapv:ManualMappingCuration 2023-12-04 EFO:0009008 Ovarian Hyperandrogenism skos:exactMatch DOID:9006146 Ovarian Hyperandrogenism semapv:ManualMappingCuration 2023-12-04 EFO:0009009 Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome skos:exactMatch DOID:8553 pyoderma gangrenosum semapv:ManualMappingCuration 2023-12-04 EFO:0009011 Arteritis skos:exactMatch DOID:9002564 Arteritis semapv:ManualMappingCuration 2023-12-04 EFO:0009012 Polyarteritis Nodosa skos:exactMatch DOID:9810 polyarteritis nodosa semapv:ManualMappingCuration 2022-01-24 EFO:0009014 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia skos:exactMatch DOID:0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia semapv:ManualMappingCuration 2022-01-24 EFO:0009015 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome skos:exactMatch DOID:0070055 Xia-Gibbs syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009016 Ataxia-oculomotor apraxia type 4 skos:exactMatch DOID:0081383 ataxia-oculomotor apraxia type 4 semapv:ManualMappingCuration 2023-12-04 EFO:0009017 Autosomal recessive spastic paraplegia type 57 skos:exactMatch DOID:0110809 hereditary spastic paraplegia 57 semapv:ManualMappingCuration 2023-12-04 EFO:0009018 Autosomal recessive spastic paraplegia type 75 skos:exactMatch DOID:0110820 hereditary spastic paraplegia 75 semapv:ManualMappingCuration 2023-12-04 EFO:0009019 Autosomal recessive spastic paraplegia type 76 skos:exactMatch DOID:0110821 hereditary spastic paraplegia 76 semapv:ManualMappingCuration 2023-12-04 EFO:0009020 Aymé-Gripp syndrome skos:exactMatch DOID:0111688 Ayme-Gripp syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009021 Bardet-Biedl syndrome 1 skos:exactMatch DOID:0110123 Bardet-Biedl syndrome 1 semapv:ManualMappingCuration 2023-12-04 EFO:0009022 Bardet-Biedl syndrome 10 skos:exactMatch DOID:0110132 Bardet-Biedl syndrome 10 semapv:ManualMappingCuration 2023-12-04 EFO:0009023 Bardet-Biedl syndrome 12 skos:exactMatch DOID:0110134 Bardet-Biedl syndrome 12 semapv:ManualMappingCuration 2023-12-04 EFO:0009024 Bardet-Biedl syndrome 4 skos:exactMatch DOID:0110126 Bardet-Biedl syndrome 4 semapv:ManualMappingCuration 2023-12-04 EFO:0009025 Bardet-Biedl syndrome 5 skos:exactMatch DOID:0110127 Bardet-Biedl syndrome 5 semapv:ManualMappingCuration 2023-12-04 EFO:0009026 Bardet-Biedl syndrome 7 skos:exactMatch DOID:0110129 Bardet-Biedl syndrome 7 semapv:ManualMappingCuration 2023-12-04 EFO:0009027 Bardet-Biedl syndrome 9 skos:exactMatch DOID:0110131 Bardet-Biedl syndrome 9 semapv:ManualMappingCuration 2023-12-04 EFO:0009028 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome skos:exactMatch DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0009029 Central precocious puberty skos:exactMatch DOID:0112308 central precocious puberty semapv:ManualMappingCuration 2023-03-17 EFO:0009030 Cerebellar-facial-dental syndrome skos:exactMatch DOID:0080898 cerebellofaciodental syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009031 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome skos:exactMatch DOID:9006799 CHOPS Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009032 Combined oxidative phosphorylation defect type 21 skos:exactMatch DOID:0111465 combined oxidative phosphorylation deficiency 21 semapv:ManualMappingCuration 2023-12-04 EFO:0009033 Combined oxidative phosphorylation defect type 23 skos:exactMatch DOID:0111500 combined oxidative phosphorylation deficiency 23 semapv:ManualMappingCuration 2023-12-04 EFO:0009034 Combined oxidative phosphorylation defect type 24 skos:exactMatch DOID:0111485 combined oxidative phosphorylation deficiency 24 semapv:ManualMappingCuration 2023-12-04 EFO:0009035 Combined oxidative phosphorylation defect type 25 skos:exactMatch DOID:0111468 combined oxidative phosphorylation deficiency 25 semapv:ManualMappingCuration 2023-12-04 EFO:0009036 Combined oxidative phosphorylation defect type 26 skos:exactMatch DOID:0111490 combined oxidative phosphorylation deficiency 26 semapv:ManualMappingCuration 2023-12-04 EFO:0009037 Combined oxidative phosphorylation defect type 27 skos:exactMatch DOID:0111489 combined oxidative phosphorylation deficiency 27 semapv:ManualMappingCuration 2023-12-04 EFO:0009038 Combined oxidative phosphorylation defect type 30 skos:exactMatch DOID:0111471 combined oxidative phosphorylation deficiency 30 semapv:ManualMappingCuration 2023-12-04 EFO:0009039 Congenital bile acid synthesis defect skos:exactMatch DOID:0050674 congenital bile acid synthesis defect semapv:ManualMappingCuration 2022-01-24 EFO:0009040 Cranio-cervical dystonia with laryngeal and upper-limb involvement skos:exactMatch DOID:0090052 dystonia 24 semapv:ManualMappingCuration 2023-12-04 EFO:0009041 Cushing syndrome due to macronodular adrenal hyperplasia skos:exactMatch DOID:0111622 ACTH-independent macronodular adrenal hyperplasia semapv:ManualMappingCuration 2023-11-19 EFO:0009042 Estrogen resistance syndrome skos:exactMatch DOID:9002239 Estrogen Resistance semapv:ManualMappingCuration 2023-12-04 EFO:0009043 Familial porphyria cutanea tarda skos:exactMatch DOID:3132 porphyria cutanea tarda semapv:ManualMappingCuration 2023-12-04 EFO:0009044 Fanconi anemia complementation group A skos:exactMatch DOID:0111095 Fanconi anemia complementation group A semapv:ManualMappingCuration 2023-12-04 EFO:0009045 Fanconi anemia complementation group F skos:exactMatch DOID:0111088 Fanconi anemia complementation group F semapv:ManualMappingCuration 2023-12-04 EFO:0009046 Fanconi anemia complementation group G skos:exactMatch DOID:0111086 Fanconi anemia complementation group G semapv:ManualMappingCuration 2023-12-04 EFO:0009048 Intrahepatic cholestasis of pregnancy skos:exactMatch DOID:0070227 intrahepatic cholestasis of pregnancy semapv:ManualMappingCuration 2023-12-04 EFO:0009049 Juvenile nephropathic cystinosis skos:exactMatch DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type semapv:ManualMappingCuration 2023-12-04 EFO:0009050 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:exactMatch DOID:9004356 Smith-Kingsmore Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009051 Non-immune hydrops fetalis skos:exactMatch DOID:9008386 Hydrops Fetalis semapv:ManualMappingCuration 2023-12-04 EFO:0009052 Pleuropulmonary blastoma skos:exactMatch DOID:4769 pleuropulmonary blastoma semapv:ManualMappingCuration 2023-03-06 EFO:0009053 Primary progressive aphasia skos:exactMatch DOID:0081388 primary progressive aphasia semapv:ManualMappingCuration 2023-12-04 EFO:0009054 Pulmonary arterial hypertension associated with congenital heart disease skos:exactMatch DOID:9001820 Pulmonary Arterial Hypertension semapv:ManualMappingCuration 2023-12-04 EFO:0009055 RIDDLE syndrome skos:exactMatch DOID:0090113 Riddle syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009056 Spinocerebellar ataxia type 38 skos:exactMatch DOID:0050985 spinocerebellar ataxia type 38 semapv:ManualMappingCuration 2023-12-04 EFO:0009057 Spinocerebellar ataxia type 40 skos:exactMatch DOID:0050986 spinocerebellar ataxia type 40 semapv:ManualMappingCuration 2023-12-04 EFO:0009058 Spinocerebellar ataxia type 41 skos:exactMatch DOID:0111744 cerebellar ataxia type 41 semapv:ManualMappingCuration 2023-12-04 EFO:0009059 Spinocerebellar ataxia type 42 skos:exactMatch DOID:0111742 cerebellar ataxia type 42 semapv:ManualMappingCuration 2023-03-06 EFO:0009060 Spinocerebellar ataxia type 43 skos:exactMatch DOID:0111745 cerebellar ataxia type 43 semapv:ManualMappingCuration 2023-12-04 EFO:0009061 TELO2-related intellectual disability-neurodevelopmental disorder skos:exactMatch DOID:9008826 YOU-HOOVER-FONG SYNDROME semapv:ManualMappingCuration 2023-12-04 EFO:0009062 Temple-Baraitser syndrome skos:exactMatch DOID:9007410 Temple-Baraitser syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009063 Wolfram-like syndrome skos:exactMatch DOID:0080584 autosomal dominant Wolfram syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009064 X-linked erythropoietic protoporphyria skos:exactMatch DOID:9008396 Erythropoietic Protoporphyria, X-Linked Dominant semapv:ManualMappingCuration 2023-12-04 EFO:0009065 calcium oxalate urolithiasis skos:exactMatch DOID:0080652 calcium oxalate nephrolithiasis semapv:ManualMappingCuration 2023-12-04 EFO:0009066 clcn4-related disorder skos:exactMatch DOID:0112060 Raynaud-Claes syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009067 combined partial 17-alpha-hydroxylase/17,20-lyase deficiency skos:exactMatch DOID:9000172 17,20-Lyase Deficiency, Isolated semapv:ManualMappingCuration 2023-12-04 EFO:0009069 hepatic methionine adenosyltransferase deficiency skos:exactMatch DOID:0050544 hypermethioninemia semapv:ManualMappingCuration 2023-12-04 EFO:0009070 intellectual developmental disorder with dysmorphic facies and ptosis skos:exactMatch DOID:9008892 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis semapv:ManualMappingCuration 2023-12-04 EFO:0009071 malignant hyperthermia, susceptibility to, 1 skos:exactMatch DOID:0080990 King Denborough syndrome semapv:ManualMappingCuration 2024-04-21 EFO:0009072 mbd5 associated neurodevelopmental disorder skos:exactMatch DOID:0070031 autosomal dominant intellectual developmental disorder 1 semapv:ManualMappingCuration 2023-12-04 EFO:0009073 methylmalonic aciduria (cobalamin deficiency) cblA type skos:exactMatch DOID:0060742 methylmalonic acidemia cblA type semapv:ManualMappingCuration 2023-12-04 EFO:0009074 methylmalonic aciduria cblb type skos:exactMatch DOID:0060743 methylmalonic acidemia cblB type semapv:ManualMappingCuration 2023-12-04 EFO:0009075 neuropathy, hereditary motor and sensory, type vib skos:exactMatch DOID:9008547 Charcot-Marie-Tooth Disease Type 6B semapv:ManualMappingCuration 2023-12-04 EFO:0009076 nonsyndromic deafness skos:exactMatch DOID:0050563 nonsyndromic deafness semapv:ManualMappingCuration 2022-01-24 EFO:0009077 premature chromatid separation trait skos:exactMatch DOID:9007183 Premature Chromatid Separation Trait semapv:ManualMappingCuration 2023-12-04 EFO:0009078 stag1-related disorder skos:exactMatch DOID:0080238 autosomal dominant intellectual developmental disorder 47 semapv:ManualMappingCuration 2023-12-04 EFO:0009079 white-sutton syndrome skos:exactMatch DOID:0070067 White-Sutton syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0009080 x-linked ichthyosis with steryl-sulfatase deficiency skos:exactMatch DOID:1700 X-linked ichthyosis semapv:ManualMappingCuration 2023-12-04 EFO:0009081 Heterotaxia skos:exactMatch DOID:0050545 visceral heterotaxy semapv:ManualMappingCuration 2023-12-04 EFO:0009082 Pilomatrixoma skos:exactMatch DOID:5374 pilomatrixoma semapv:ManualMappingCuration 2022-01-24 EFO:0009084 Endarteritis skos:exactMatch DOID:9001236 Endarteritis semapv:ManualMappingCuration 2023-12-04 EFO:0009085 arterial occlusive disease skos:exactMatch DOID:9006474 Arterial Occlusive Diseases semapv:ManualMappingCuration 2023-12-04 EFO:0009086 arteriosclerosis skos:exactMatch DOID:2349 arteriosclerosis semapv:ManualMappingCuration 2022-01-24 EFO:0009087 non-typhoidal Salmonella bacteremia skos:exactMatch DOID:9005036 Bacteremia semapv:ManualMappingCuration 2023-12-04 EFO:0009093 choroidal melanoma skos:exactMatch DOID:6438 malignant choroid melanoma semapv:ManualMappingCuration 2023-12-04 EFO:0009094 idiopathic dilated cardiomyopathy skos:exactMatch DOID:12930 dilated cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:0009104 hyperuricemia skos:exactMatch DOID:1920 hyperuricemia semapv:ManualMappingCuration 2023-12-04 EFO:0009117 typhus skos:exactMatch DOID:11256 typhus semapv:ManualMappingCuration 2022-01-24 EFO:0009118 female reproductive endometrioid cancer skos:exactMatch DOID:3001 female reproductive endometrioid cancer semapv:ManualMappingCuration 2022-01-24 EFO:0009119 precursor lymphoblastic lymphoma/leukemia skos:exactMatch DOID:9952 acute lymphoblastic leukemia semapv:ManualMappingCuration 2023-12-04 EFO:0009135 leigh syndrome due to mitochondrial complex iv deficiency skos:exactMatch DOID:9000658 Leigh Syndrome due to Mitochondrial Complex IV Deficiency semapv:ManualMappingCuration 2023-12-04 EFO:0009136 heterotaxy, visceral, x-linked skos:exactMatch DOID:9003587 Congenital Heart Defects, Multiple Types, 1, X-Linked semapv:ManualMappingCuration 2023-12-04 EFO:0009137 renal hypodysplasia/aplasia 3 skos:exactMatch DOID:9009100 Renal Hypodysplasia/Aplasia 3 semapv:ManualMappingCuration 2023-12-04 EFO:0009138 laminin alpha 2-related dystrophy skos:exactMatch DOID:0110636 congenital merosin-deficient muscular dystrophy 1A semapv:ManualMappingCuration 2023-12-04 EFO:0009139 glut1 deficiency syndrome 1, autosomal recessive skos:exactMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:ManualMappingCuration 2024-08-10 EFO:0009139 glut1 deficiency syndrome 1, autosomal recessive skos:exactMatch DOID:9007802 GLUT1 Deficiency Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009140 metastatic pancreatic neuroendocrine tumours skos:exactMatch DOID:1798 pancreatic endocrine carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0009141 fgfr2 related craniosynostosis skos:exactMatch DOID:2340 craniosynostosis semapv:ManualMappingCuration 2023-12-04 EFO:0009142 autosomal dominant dilated cardiomyopathy skos:exactMatch DOID:12930 dilated cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:0009144 Lethal neonatal spasticity-epileptic encephalopathy syndrome skos:exactMatch DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal semapv:ManualMappingCuration 2023-12-04 EFO:0009145 limb-girdle muscular dystrophy-dystroglycanopathy, type c1 skos:exactMatch DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K semapv:ManualMappingCuration 2023-12-04 EFO:0009146 pik3ca related overgrowth spectrum skos:exactMatch DOID:9002647 Megalencephaly - Cutis Marmorata Telangiectatica Congenita semapv:ManualMappingCuration 2023-12-04 EFO:0009147 partial adenosine deaminase deficiency skos:exactMatch DOID:5810 adenosine deaminase deficiency semapv:ManualMappingCuration 2023-12-04 EFO:0009148 acth-independent macronodular adrenal hyperplasia 2 skos:exactMatch DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 semapv:ManualMappingCuration 2023-12-04 EFO:0009149 muscular dystrophy, congenital, with cataracts and intellectual disability skos:exactMatch DOID:0080197 congenital muscular dystrophy with cataracts and intellectual disability semapv:ManualMappingCuration 2022-01-24 EFO:0009150 cholestasis, intrahepatic, of pregnancy 3 skos:exactMatch DOID:0070229 intrahepatic cholestasis of pregnancy 3 semapv:ManualMappingCuration 2023-12-04 EFO:0009151 cone-rod dystrophy and hearing loss skos:exactMatch DOID:9000732 Cone-Rod Dystrophy and Hearing Loss semapv:ManualMappingCuration 2023-12-04 EFO:0009152 intellectual disability, autosomal dominant 52 skos:exactMatch DOID:0080231 autosomal dominant intellectual developmental disorder 52 semapv:ManualMappingCuration 2022-01-24 EFO:0009153 lymphedema, hereditary, iii skos:exactMatch DOID:9000957 lymphatic malformation 6 semapv:ManualMappingCuration 2023-12-04 EFO:0009154 hemophilia b leyden skos:exactMatch DOID:12259 hemophilia B semapv:ManualMappingCuration 2023-12-04 EFO:0009155 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:exactMatch DOID:9002230 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY semapv:ManualMappingCuration 2023-12-04 EFO:0009156 intellectual disability, autosomal dominant 48 skos:exactMatch DOID:0080235 autosomal dominant intellectual developmental disorder 48 semapv:ManualMappingCuration 2022-01-24 EFO:0009157 susceptibility to malaria skos:exactMatch DOID:12365 malaria semapv:ManualMappingCuration 2023-12-04 EFO:0009158 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy skos:exactMatch DOID:9006901 Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy semapv:ManualMappingCuration 2023-12-04 EFO:0009159 combined oxidative phosphorylation deficiency 33 skos:exactMatch DOID:0111495 combined oxidative phosphorylation deficiency 33 semapv:ManualMappingCuration 2023-12-04 EFO:0009160 stromme syndrome skos:exactMatch DOID:0110595 Stromme syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0009161 debrisoquine, poor metabolism of skos:exactMatch DOID:9002295 Poor Drug Metabolism, CYP2D6-Related semapv:ManualMappingCuration 2023-12-04 EFO:0009162 charcot-marie-tooth disease, axonal, type 2t skos:exactMatch DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T semapv:ManualMappingCuration 2022-01-24 EFO:0009163 woolly hair, autosomal recessive 2, with or without hypotrichosis skos:exactMatch DOID:0110704 hypotrichosis 7 semapv:ManualMappingCuration 2023-12-04 EFO:0009164 intellectual disability, autosomal dominant 54 skos:exactMatch DOID:0080230 autosomal dominant intellectual developmental disorder 54 semapv:ManualMappingCuration 2022-01-24 EFO:0009165 intellectual disability, autosomal dominant 53 skos:exactMatch DOID:0080228 autosomal dominant intellectual developmental disorder 53 semapv:ManualMappingCuration 2022-01-24 EFO:0009189 hyperthyroidism skos:exactMatch DOID:7998 hyperthyroidism semapv:ManualMappingCuration 2022-01-24 EFO:0009190 Thyrotoxicosis skos:exactMatch DOID:7997 thyrotoxicosis semapv:ManualMappingCuration 2022-01-24 EFO:0009191 Toxic Nodular Goiter skos:exactMatch DOID:11277 Plummer's disease semapv:ManualMappingCuration 2022-01-24 EFO:0009192 Drug- or toxin-induced pulmonary arterial hypertension skos:exactMatch DOID:9001820 Pulmonary Arterial Hypertension semapv:ManualMappingCuration 2023-12-04 EFO:0009194 Pulmonary arterial hypertension associated with HIV infection skos:exactMatch DOID:9001820 Pulmonary Arterial Hypertension semapv:ManualMappingCuration 2023-12-04 EFO:0009195 Pulmonary arterial hypertension associated with chronic hemolytic anemia skos:exactMatch DOID:9001820 Pulmonary Arterial Hypertension semapv:ManualMappingCuration 2023-12-04 EFO:0009197 Pulmonary arterial hypertension associated with portal hypertension skos:exactMatch DOID:9001820 Pulmonary Arterial Hypertension semapv:ManualMappingCuration 2023-12-04 EFO:0009198 Pulmonary arterial hypertension associated with schistosomiasis skos:exactMatch DOID:9001820 Pulmonary Arterial Hypertension semapv:ManualMappingCuration 2023-12-04 EFO:0009200 Eisenmenger syndrome skos:exactMatch DOID:9004363 Eisenmenger Complex semapv:ManualMappingCuration 2023-12-04 EFO:0009201 myopic macular degeneration skos:exactMatch DOID:4448 macular degeneration semapv:ManualMappingCuration 2023-12-04 EFO:0009254 optic nerve glioblastoma skos:exactMatch DOID:4992 optic nerve glioma semapv:ManualMappingCuration 2022-01-24 EFO:0009255 cecal neoplasm skos:exactMatch DOID:1517 cecal benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:0009255 cecal neoplasm skos:exactMatch DOID:9003694 Cecal Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:0009259 skin carcinoma skos:exactMatch DOID:3451 skin carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:0009260 non-melanoma skin carcinoma skos:exactMatch DOID:3451 skin carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0009266 refractory celiac disease skos:exactMatch DOID:9002592 refractory celiac disease semapv:ManualMappingCuration 2023-12-04 EFO:0009267 delirium skos:exactMatch DOID:8645 subacute delirium semapv:ManualMappingCuration 2023-12-04 EFO:0009275 premature cardiac contractions skos:exactMatch DOID:9002737 Premature Cardiac Complexes semapv:ManualMappingCuration 2023-12-04 EFO:0009276 ventricular ectopy skos:exactMatch DOID:9007033 Ventricular Premature Complexes semapv:ManualMappingCuration 2023-12-04 EFO:0009277 supraventricular ectopy skos:exactMatch DOID:9000514 Atrial Premature Complexes semapv:ManualMappingCuration 2023-12-04 EFO:0009295 polyarteritis nodosa, childhoood-onset skos:exactMatch DOID:9008412 Polyarteritis Nodosa, Childhood-Onset semapv:ManualMappingCuration 2023-12-04 EFO:0009296 mutyh-associated polyposis skos:exactMatch DOID:0080410 familial adenomatous polyposis 2 semapv:ManualMappingCuration 2023-12-04 EFO:0009297 fg syndrome skos:exactMatch DOID:14711 FG syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0009298 hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency skos:exactMatch DOID:3762 cytochrome-c oxidase deficiency disease semapv:ManualMappingCuration 2023-12-04 EFO:0009299 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections skos:exactMatch DOID:0070234 Loeys-Dietz syndrome 2 semapv:ManualMappingCuration 2023-12-04 EFO:0009300 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch DOID:0070038 autosomal dominant intellectual developmental disorder 8 semapv:ManualMappingCuration 2023-12-04 EFO:0009301 dystonia 28, childhood-onset skos:exactMatch DOID:0060936 dystonia 28, childhood-onset semapv:ManualMappingCuration 2024-05-19 EFO:0009301 dystonia 28, childhood-onset skos:exactMatch DOID:9004049 Dystonia 28, Childhood-onset semapv:ManualMappingCuration 2023-12-04 EFO:0009302 amelogenesis imperfecta, type ij skos:exactMatch DOID:0080953 amelogenesis imperfecta type 1J semapv:ManualMappingCuration 2023-04-17 EFO:0009313 Linear IgA Dermatosis skos:exactMatch DOID:9005191 Linear IgA Bullous Dermatosis semapv:ManualMappingCuration 2023-12-04 EFO:0009314 blood coagulation disease skos:exactMatch DOID:1247 blood coagulation disease semapv:ManualMappingCuration 2022-01-24 EFO:0009315 thrombophilia skos:exactMatch DOID:2452 thrombophilia semapv:ManualMappingCuration 2022-01-24 EFO:0009316 protein c deficiency skos:exactMatch DOID:3756 protein C deficiency semapv:ManualMappingCuration 2023-12-04 EFO:0009321 diabetic macular edema skos:exactMatch DOID:9191 diabetic macular edema semapv:ManualMappingCuration 2022-01-24 EFO:0009322 proliferative diabetic retinopathy skos:exactMatch DOID:13207 proliferative diabetic retinopathy semapv:ManualMappingCuration 2022-01-24 EFO:0009339 Herpes simplex virus 2 seropositivity skos:exactMatch DOID:8566 herpes simplex semapv:ManualMappingCuration 2023-12-04 EFO:0009361 colorectal mucinous adenocarcinoma skos:exactMatch DOID:0050861 colorectal adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0009363 chronic central serous retinopathy skos:exactMatch DOID:9003248 Central Serous Chorioretinopathy semapv:ManualMappingCuration 2023-12-04 EFO:0009365 vaginal discharge skos:exactMatch DOID:3767 vaginal discharge semapv:ManualMappingCuration 2023-12-04 EFO:0009373 edema skos:exactMatch DOID:9000197 Edema semapv:ManualMappingCuration 2023-12-04 EFO:0009380 facial neuralgia skos:exactMatch DOID:13865 facial neuralgia semapv:ManualMappingCuration 2022-01-24 EFO:0009382 metabolically healthy obesity skos:exactMatch DOID:9006237 Metabolically Benign Obesity semapv:ManualMappingCuration 2023-12-04 EFO:0009383 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:exactMatch DOID:9007069 Hyperphosphatemic Familial Tumoral Calcinosis 2 semapv:ManualMappingCuration 2023-12-04 EFO:0009384 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:exactMatch DOID:9005366 Hyperphosphatemic Familial Tumoral Calcinosis 3 semapv:ManualMappingCuration 2023-12-04 EFO:0009385 familial tumoral calcinosis skos:exactMatch DOID:0111063 hyperphosphatemic familial tumoral calcinosis semapv:ManualMappingCuration 2023-12-04 EFO:0009385 familial tumoral calcinosis skos:exactMatch DOID:9007993 Dehydration semapv:ManualMappingCuration 2023-12-04 EFO:0009386 central nervous system disease skos:exactMatch DOID:331 central nervous system disease semapv:ManualMappingCuration 2022-01-24 EFO:0009387 peripheral nervous system disease skos:exactMatch DOID:574 peripheral nervous system disease semapv:ManualMappingCuration 2022-01-24 EFO:0009406 glucose metabolism disease skos:exactMatch DOID:4194 glucose metabolism disease semapv:ManualMappingCuration 2022-01-24 EFO:0009424 Yersinia enterocolitica infectious disease skos:exactMatch DOID:9000171 Yersinia enterocolitica infections semapv:ManualMappingCuration 2023-12-04 EFO:0009425 Yersinia pestis infectious disease skos:exactMatch DOID:3482 plague semapv:ManualMappingCuration 2022-01-24 EFO:0009426 necrosis skos:exactMatch DOID:9005749 Necrosis semapv:ManualMappingCuration 2023-12-04 EFO:0009429 Mycobacterium infection skos:exactMatch DOID:9001415 Mycobacterium Infections semapv:ManualMappingCuration 2023-12-04 EFO:0009430 neuralgia skos:exactMatch DOID:9005968 Neuralgia semapv:ManualMappingCuration 2023-12-04 EFO:0009431 intestinal disease skos:exactMatch DOID:5295 intestinal disease semapv:ManualMappingCuration 2022-01-24 EFO:0009432 fibroblastic disorder skos:exactMatch DOID:65 connective tissue disease semapv:ManualMappingCuration 2023-12-04 EFO:0009433 lower respiratory tract disease skos:exactMatch DOID:0050161 lower respiratory tract disease semapv:ManualMappingCuration 2022-01-24 EFO:0009434 death by undetermined cause skos:exactMatch DOID:9000543 Death semapv:ManualMappingCuration 2023-12-04 EFO:0009441 Waldenstrom macroglobulinemia skos:exactMatch DOID:0060901 lymphoplasmacytic lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:0009443 BRCAX breast cancer skos:exactMatch DOID:9006047 Breast Cancer 3 semapv:ManualMappingCuration 2023-12-04 EFO:0009444 hypoxia skos:exactMatch DOID:9002669 Hypoxia semapv:ManualMappingCuration 2023-12-04 EFO:0009446 asphyxia skos:exactMatch DOID:9001041 Asphyxia semapv:ManualMappingCuration 2023-12-04 EFO:0009448 pulmonary fibrosis skos:exactMatch DOID:3770 pulmonary fibrosis semapv:ManualMappingCuration 2022-01-24 EFO:0009449 keratitis skos:exactMatch DOID:4677 keratitis semapv:ManualMappingCuration 2022-01-24 EFO:0009450 conjunctivitis skos:exactMatch DOID:6195 conjunctivitis semapv:ManualMappingCuration 2022-01-24 EFO:0009451 hypoparathyroidism skos:exactMatch DOID:11199 hypoparathyroidism semapv:ManualMappingCuration 2022-01-24 EFO:0009452 hyperaldosteronism skos:exactMatch DOID:446 primary hyperaldosteronism semapv:ManualMappingCuration 2022-01-24 EFO:0009453 hemiplegia skos:exactMatch DOID:10969 hemiplegia semapv:ManualMappingCuration 2022-01-24 EFO:0009454 gastric ulcer skos:exactMatch DOID:10808 gastric ulcer semapv:ManualMappingCuration 2022-01-24 EFO:0009455 lacrimal apparatus disease skos:exactMatch DOID:1400 lacrimal apparatus disease semapv:ManualMappingCuration 2022-01-24 EFO:0009456 exfoliative dermatitis skos:exactMatch DOID:9006215 Exfoliative Dermatitis semapv:ManualMappingCuration 2023-12-04 EFO:0009459 ACPA-positive rheumatoid arthritis skos:exactMatch DOID:7148 rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:0009460 ACPA-negative rheumatoid arthritis skos:exactMatch DOID:7148 rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:0009463 infarction skos:exactMatch DOID:9005600 Infarction semapv:ManualMappingCuration 2023-12-04 EFO:0009464 corneal disease skos:exactMatch DOID:10124 corneal disease semapv:ManualMappingCuration 2022-01-24 EFO:0009466 Löfgren’s syndrome skos:exactMatch DOID:9006296 Lofgren’s syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009468 jaw disease skos:exactMatch DOID:9003876 Jaw Diseases semapv:ManualMappingCuration 2023-12-04 EFO:0009469 Bartholin gland disease skos:exactMatch DOID:60002 Bartholin's gland disease semapv:ManualMappingCuration 2022-01-24 EFO:0009470 soft tissue disease skos:exactMatch DOID:9005306 soft tissue disease semapv:ManualMappingCuration 2023-12-04 EFO:0009471 small kidney skos:exactMatch DOID:0080204 renal hypoplasia semapv:ManualMappingCuration 2023-12-04 EFO:0009472 tympanic membrane perforation skos:exactMatch DOID:9004210 Tympanic Membrane Perforation semapv:ManualMappingCuration 2023-12-04 EFO:0009473 hemolysis skos:exactMatch DOID:9003603 Hemolysis semapv:ManualMappingCuration 2023-12-04 EFO:0009475 cervical polyp skos:exactMatch DOID:0060325 cervical polyp semapv:ManualMappingCuration 2023-12-04 EFO:0009476 neck injury skos:exactMatch DOID:9002927 Neck Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0009477 vertebral joint disease skos:exactMatch DOID:381 arthropathy semapv:ManualMappingCuration 2023-12-04 EFO:0009478 vocal cord polyp skos:exactMatch DOID:9003896 Polyps semapv:ManualMappingCuration 2023-12-04 EFO:0009479 throat disease skos:exactMatch DOID:9007241 Otorhinolaryngologic Diseases semapv:ManualMappingCuration 2023-12-04 EFO:0009481 paranasal sinus disease skos:exactMatch DOID:1352 paranasal sinus disease semapv:ManualMappingCuration 2022-01-24 EFO:0009482 drug allergy skos:exactMatch DOID:0060500 drug allergy semapv:ManualMappingCuration 2022-01-24 EFO:0009483 breast disease skos:exactMatch DOID:3463 breast disease semapv:ManualMappingCuration 2022-01-24 EFO:0009484 uterine polyp skos:exactMatch DOID:9042 polyp of corpus uteri semapv:ManualMappingCuration 2022-01-24 EFO:0009485 eye injury skos:exactMatch DOID:9006447 Eye Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0009486 diabetic eye disease skos:exactMatch DOID:8947 diabetic retinopathy semapv:ManualMappingCuration 2023-12-04 EFO:0009487 nerve compression syndrome skos:exactMatch DOID:573 nerve compression syndrome semapv:ManualMappingCuration 2022-01-24 EFO:0009488 spinal cord disease skos:exactMatch DOID:319 spinal cord disease semapv:ManualMappingCuration 2022-01-24 EFO:0009489 cranial nerve palsy skos:exactMatch DOID:3817 cranial nerve palsy semapv:ManualMappingCuration 2022-01-24 EFO:0009490 nervous system injury skos:exactMatch DOID:9006062 Nervous System Trauma semapv:ManualMappingCuration 2023-12-04 EFO:0009491 adrenocortical insufficiency skos:exactMatch DOID:10493 adrenal cortical hypofunction semapv:ManualMappingCuration 2022-01-24 EFO:0009492 cardiac arrest skos:exactMatch DOID:0060319 cardiac arrest semapv:ManualMappingCuration 2023-12-04 EFO:0009493 paroxysmal tachycardia skos:exactMatch DOID:9004669 Paroxysmal Tachycardia semapv:ManualMappingCuration 2023-12-04 EFO:0009502 abdominal injury skos:exactMatch DOID:9001932 Abdominal Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0009503 caustic injury skos:exactMatch DOID:9003730 Chemical Burns semapv:ManualMappingCuration 2023-12-04 EFO:0009504 crush injury skos:exactMatch DOID:9001281 Crush Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0009505 head injury skos:exactMatch DOID:9007621 Craniocerebral Trauma semapv:ManualMappingCuration 2023-12-04 EFO:0009506 heart injury skos:exactMatch DOID:9007588 Heart Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0009507 knee injury skos:exactMatch DOID:9008290 Knee Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0009508 leg injury skos:exactMatch DOID:9008911 Leg Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0009509 limb injury skos:exactMatch DOID:9000623 panic disorder with agoraphobia semapv:ManualMappingCuration 2023-12-04 EFO:0009509 limb injury skos:exactMatch DOID:9004073 limb injury semapv:ManualMappingCuration 2023-12-04 EFO:0009510 peripheral nerve injury skos:exactMatch DOID:9001240 Peripheral Nerve Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0009513 multiple bone fractures skos:exactMatch DOID:9007618 Fractures, Multiple semapv:ManualMappingCuration 2023-12-04 EFO:0009515 wrist fracture skos:exactMatch DOID:9001085 wrist fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009516 burn skos:exactMatch DOID:9007730 Burns semapv:ManualMappingCuration 2023-12-04 EFO:0009521 dislocation skos:exactMatch DOID:9003279 Joint Dislocations semapv:ManualMappingCuration 2023-12-04 EFO:0009522 disturbance of skin sensation skos:exactMatch DOID:37 skin disease semapv:ManualMappingCuration 2023-12-04 EFO:0009523 fecal incontinence skos:exactMatch DOID:9008184 Fecal Incontinence semapv:ManualMappingCuration 2023-12-04 EFO:0009524 female genital tract fistula skos:exactMatch DOID:9002824 Vaginal Fistula semapv:ManualMappingCuration 2023-12-04 EFO:0009525 foreign body skos:exactMatch DOID:9003074 Foreign Bodies semapv:ManualMappingCuration 2023-12-04 EFO:0009526 foreign body in gastrointestinal tract skos:exactMatch DOID:9003074 Foreign Bodies semapv:ManualMappingCuration 2023-12-04 EFO:0009527 frostbite skos:exactMatch DOID:9006668 Frostbite semapv:ManualMappingCuration 2023-12-04 EFO:0009528 AIDS-related disease skos:exactMatch DOID:635 acquired immunodeficiency syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009529 anemia due to enzyme disorder skos:exactMatch DOID:2355 anemia semapv:ManualMappingCuration 2023-12-04 EFO:0009530 anuria skos:exactMatch DOID:2983 anuria semapv:ManualMappingCuration 2022-01-24 EFO:0009531 aortic valve disease skos:exactMatch DOID:62 aortic valve disease semapv:ManualMappingCuration 2022-01-24 EFO:0009532 autonomic nervous system disease skos:exactMatch DOID:11465 autonomic nervous system disease semapv:ManualMappingCuration 2022-01-24 EFO:0009533 basal ganglia disease skos:exactMatch DOID:679 basal ganglia disease semapv:ManualMappingCuration 2022-01-24 EFO:0009534 biliary tract disease skos:exactMatch DOID:9741 biliary tract disease semapv:ManualMappingCuration 2022-01-24 EFO:0009535 binocular vision disease skos:exactMatch DOID:12667 binocular vision disease semapv:ManualMappingCuration 2022-01-24 EFO:0009536 blepharitis skos:exactMatch DOID:9423 blepharitis semapv:ManualMappingCuration 2022-01-24 EFO:0009537 cervical disc degenerative disorder skos:exactMatch DOID:90 degenerative disc disease semapv:ManualMappingCuration 2023-12-04 EFO:0009538 chronic inflammatory demyelinating polyneuropathy skos:exactMatch DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration 2023-12-04 EFO:0009539 congenital mitral malformation skos:exactMatch DOID:11502 mitral valve insufficiency semapv:ManualMappingCuration 2023-12-04 EFO:0009540 dental pulp disease skos:exactMatch DOID:5330 dental pulp disease semapv:ManualMappingCuration 2022-01-24 EFO:0009541 disease of peritoneum skos:exactMatch DOID:9006175 Peritoneal Diseases semapv:ManualMappingCuration 2023-12-04 EFO:0009542 disorder of appendix skos:exactMatch DOID:60000 appendix disease semapv:ManualMappingCuration 2022-01-24 EFO:0009543 disturbances of sensation of smell and taste skos:exactMatch DOID:0050155 sensory system disease semapv:ManualMappingCuration 2023-12-04 EFO:0009544 esophageal disease skos:exactMatch DOID:6050 esophageal disease semapv:ManualMappingCuration 2022-01-24 EFO:0009545 esophageal varices skos:exactMatch DOID:112 esophageal varix semapv:ManualMappingCuration 2022-01-24 EFO:0009546 eye adnexa disease skos:exactMatch DOID:9001010 eye adnexa disease semapv:ManualMappingCuration 2023-12-04 EFO:0009547 eyelid disease skos:exactMatch DOID:530 eyelid disease semapv:ManualMappingCuration 2022-01-24 EFO:0009548 fallopian tube disease skos:exactMatch DOID:1962 fallopian tube disease semapv:ManualMappingCuration 2022-01-24 EFO:0009549 female reproductive system disease skos:exactMatch DOID:229 female reproductive system disease semapv:ManualMappingCuration 2022-01-24 EFO:0009550 headache disorder skos:exactMatch DOID:9007953 Headache Disorders semapv:ManualMappingCuration 2023-12-04 EFO:0009551 heart valve disease skos:exactMatch DOID:4079 heart valve disease semapv:ManualMappingCuration 2022-01-24 EFO:0009552 hemorrhoid skos:exactMatch DOID:9746 hemorrhoid semapv:ManualMappingCuration 2022-01-24 EFO:0009553 HIV-associated cancer skos:exactMatch DOID:9005562 AIDS-Related Kaposi Sarcoma semapv:ManualMappingCuration 2023-12-04 EFO:0009554 malabsorption syndrome skos:exactMatch DOID:9002984 Malabsorption Syndromes semapv:ManualMappingCuration 2023-12-04 EFO:0009555 male reproductive system disease skos:exactMatch DOID:48 male reproductive system disease semapv:ManualMappingCuration 2022-01-24 EFO:0009556 mineral metabolism disease skos:exactMatch DOID:0050032 mineral metabolism disease semapv:ManualMappingCuration 2023-12-04 EFO:0009557 mitral valve disease skos:exactMatch DOID:61 mitral valve disease semapv:ManualMappingCuration 2022-01-24 EFO:0009558 mononeuropathy skos:exactMatch DOID:1188 mononeuropathy semapv:ManualMappingCuration 2022-01-24 EFO:0009559 nerve plexus disease skos:exactMatch DOID:3688 plexopathy semapv:ManualMappingCuration 2022-01-24 EFO:0009560 otitis externa skos:exactMatch DOID:9463 otitis externa semapv:ManualMappingCuration 2022-01-24 EFO:0009561 parasitic intestinal disease skos:exactMatch DOID:9002892 Parasitic Intestinal Diseases semapv:ManualMappingCuration 2023-12-04 EFO:0009562 polyneuropathy skos:exactMatch DOID:1389 polyneuropathy semapv:ManualMappingCuration 2022-01-24 EFO:0009563 protein energy malnutrition skos:exactMatch DOID:11801 protein-energy malnutrition semapv:ManualMappingCuration 2022-01-24 EFO:0009564 pulmonary valve disease skos:exactMatch DOID:5749 pulmonary valve disease semapv:ManualMappingCuration 2022-01-24 EFO:0009566 renal tubule disease skos:exactMatch DOID:447 renal tubular transport disease semapv:ManualMappingCuration 2023-12-04 EFO:0009566 renal tubule disease skos:exactMatch DOID:9000111 Radiation Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0009567 Spirochaetales Infections skos:exactMatch DOID:9002423 Spirochaetales Infections semapv:ManualMappingCuration 2023-12-04 EFO:0009568 tricuspid valve disease skos:exactMatch DOID:0050826 tricuspid valve disease semapv:ManualMappingCuration 2022-01-24 EFO:0009569 trigeminal nerve disease skos:exactMatch DOID:561 trigeminal nerve disease semapv:ManualMappingCuration 2022-01-24 EFO:0009570 tympanic membrane disease skos:exactMatch DOID:5782 tympanic membrane disease semapv:ManualMappingCuration 2022-01-24 EFO:0009571 urinary tract obstruction skos:exactMatch DOID:5200 urinary tract obstruction semapv:ManualMappingCuration 2022-01-24 EFO:0009572 uterine inflammatory disease skos:exactMatch DOID:13736 uterine inflammatory disease semapv:ManualMappingCuration 2022-01-24 EFO:0009575 mosquito-borne hemorragic fever skos:exactMatch DOID:9007401 Viral Hemorrhagic Fevers semapv:ManualMappingCuration 2023-12-04 EFO:0009579 postpartum hemorrhage skos:exactMatch DOID:9007585 Postpartum Hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0009582 sprain skos:exactMatch DOID:9000934 Sprains and Strains semapv:ManualMappingCuration 2023-12-04 EFO:0009584 AQP4-IgG-positive neuromyelitis optica skos:exactMatch DOID:8869 neuromyelitis optica semapv:ManualMappingCuration 2023-12-04 EFO:0009585 AQP4-IgG-negative neuromyelitis optica skos:exactMatch DOID:8869 neuromyelitis optica semapv:ManualMappingCuration 2023-12-04 EFO:0009601 testicular disease skos:exactMatch DOID:2519 testicular disease semapv:ManualMappingCuration 2022-01-24 EFO:0009602 prostate disease skos:exactMatch DOID:47 prostate disease semapv:ManualMappingCuration 2022-01-24 EFO:0009604 labyrinthitis skos:exactMatch DOID:1468 labyrinthitis semapv:ManualMappingCuration 2022-01-24 EFO:0009604 labyrinthitis skos:exactMatch DOID:3930 otitis interna semapv:ManualMappingCuration 2022-01-24 EFO:0009605 pancreas disease skos:exactMatch DOID:26 pancreas disease semapv:ManualMappingCuration 2022-01-24 EFO:0009606 macular degeneration skos:exactMatch DOID:4448 macular degeneration semapv:ManualMappingCuration 2022-01-24 EFO:0009607 pituitary gland disease skos:exactMatch DOID:53 pituitary gland disease semapv:ManualMappingCuration 2022-01-24 EFO:0009608 stomach disease skos:exactMatch DOID:76 stomach disease semapv:ManualMappingCuration 2022-01-24 EFO:0009609 myocarditis skos:exactMatch DOID:820 myocarditis semapv:ManualMappingCuration 2022-01-24 EFO:0009610 cervical spondylosis skos:exactMatch DOID:2247 spondylosis semapv:ManualMappingCuration 2023-12-04 EFO:0009611 orbital fracture skos:exactMatch DOID:9001115 Orbital Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009612 jaw fracture skos:exactMatch DOID:9004559 Jaw Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009613 fibula fracture skos:exactMatch DOID:9006847 fibula fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009614 clavicle fracture skos:exactMatch DOID:9008076 clavicle fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009615 ankle fracture skos:exactMatch DOID:9006786 Ankle Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009616 finger fracture skos:exactMatch DOID:9008375 finger fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009617 knee fracture skos:exactMatch DOID:9007321 knee fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009618 foot fracture skos:exactMatch DOID:9002589 Bone Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009619 neuroma skos:exactMatch DOID:2001 neuroma semapv:ManualMappingCuration 2022-01-24 EFO:0009620 rib fracture skos:exactMatch DOID:9008717 Rib Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009621 shoulder fracture skos:exactMatch DOID:9004624 Shoulder Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009622 fracture of pelvis skos:exactMatch DOID:9002589 Bone Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009623 nose injury skos:exactMatch DOID:9001600 Wounds and Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0009624 pulmonary alveolitis skos:exactMatch DOID:3082 interstitial lung disease semapv:ManualMappingCuration 2023-12-04 EFO:0009625 facial pain skos:exactMatch DOID:9003932 Facial Pain semapv:ManualMappingCuration 2023-12-04 EFO:0009626 pyloric stenosis skos:exactMatch DOID:12639 pyloric stenosis semapv:ManualMappingCuration 2022-01-24 EFO:0009626 pyloric stenosis skos:exactMatch DOID:3122 gastric outlet obstruction semapv:ManualMappingCuration 2022-01-24 EFO:0009630 convalescence skos:exactMatch DOID:9004390 Convalescence semapv:ManualMappingCuration 2023-12-04 EFO:0009637 pleural effusion skos:exactMatch DOID:9005883 Pleural Effusion semapv:ManualMappingCuration 2023-12-04 EFO:0009644 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy skos:exactMatch DOID:9009098 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY semapv:ManualMappingCuration 2023-12-04 EFO:0009645 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:exactMatch DOID:9004468 Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart semapv:ManualMappingCuration 2023-12-04 EFO:0009646 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch DOID:0060651 MYH-9 related disease semapv:ManualMappingCuration 2022-07-21 EFO:0009647 epilepsy, hearing loss, and intellectual disability syndrome skos:exactMatch DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities semapv:ManualMappingCuration 2023-12-04 EFO:0009649 susceptibility to breast cancer skos:exactMatch DOID:1612 breast cancer semapv:ManualMappingCuration 2023-12-04 EFO:0009650 hyperproinsulinemia skos:exactMatch DOID:9003282 Hyperproinsulinemia semapv:ManualMappingCuration 2023-12-04 EFO:0009651 rag2 deficiency skos:exactMatch DOID:0060012 recombinase activating gene 2 deficiency semapv:ManualMappingCuration 2023-12-04 EFO:0009652 neointimal hyperplasia skos:exactMatch DOID:9005396 Intimal Hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:0009657 acute pharyngitis skos:exactMatch DOID:2275 pharyngitis semapv:ManualMappingCuration 2023-12-04 EFO:0009659 aneurysm skos:exactMatch DOID:9001665 Aneurysm semapv:ManualMappingCuration 2023-12-04 EFO:0009660 anus disease skos:exactMatch DOID:3128 anus disease semapv:ManualMappingCuration 2022-01-24 EFO:0009661 bronchitis skos:exactMatch DOID:6132 bronchitis semapv:ManualMappingCuration 2022-01-24 EFO:0009662 common wart skos:exactMatch DOID:11165 common wart semapv:ManualMappingCuration 2022-01-24 EFO:0009663 disease of genitourinary system skos:exactMatch DOID:9009146 Urogenital Diseases semapv:ManualMappingCuration 2023-12-04 EFO:0009664 disease of orbital region skos:exactMatch DOID:930 orbital disease semapv:ManualMappingCuration 2023-12-04 EFO:0009665 disorder of patella skos:exactMatch DOID:0080001 bone disease semapv:ManualMappingCuration 2023-12-04 EFO:0009666 enthesopathy skos:exactMatch DOID:204 enthesopathy semapv:ManualMappingCuration 2022-01-24 EFO:0009667 eustachian tube disease skos:exactMatch DOID:9739 eustachian tube disease semapv:ManualMappingCuration 2022-01-24 EFO:0009668 external ear disease skos:exactMatch DOID:379 external ear disease semapv:ManualMappingCuration 2022-01-24 EFO:0009669 flatulence skos:exactMatch DOID:9001533 Flatulence semapv:ManualMappingCuration 2023-12-04 EFO:0009670 gingival disease skos:exactMatch DOID:1483 gingival disease semapv:ManualMappingCuration 2022-01-24 EFO:0009671 hereditary ataxia skos:exactMatch DOID:0050951 hereditary ataxia semapv:ManualMappingCuration 2022-01-24 EFO:0009672 inner ear disease skos:exactMatch DOID:2952 inner ear disease semapv:ManualMappingCuration 2022-01-24 EFO:0009673 laryngeal disease skos:exactMatch DOID:786 laryngeal disease semapv:ManualMappingCuration 2022-01-24 EFO:0009674 lens disease skos:exactMatch DOID:110 lens disease semapv:ManualMappingCuration 2022-01-24 EFO:0009676 musculoskeletal system disease skos:exactMatch DOID:17 musculoskeletal system disease semapv:ManualMappingCuration 2022-01-24 EFO:0009676 musculoskeletal system disease skos:exactMatch DOID:9005120 Pigmented Nevus semapv:ManualMappingCuration 2023-12-04 EFO:0009677 occlusion precerebral artery skos:exactMatch DOID:5976 occlusion precerebral artery semapv:ManualMappingCuration 2022-01-24 EFO:0009678 paralytic strabismus skos:exactMatch DOID:10863 paralytic squint semapv:ManualMappingCuration 2022-01-24 EFO:0009679 paraplegia skos:exactMatch DOID:607 paraplegia semapv:ManualMappingCuration 2022-01-24 EFO:0009680 pleural empyema skos:exactMatch DOID:3798 pleural empyema semapv:ManualMappingCuration 2022-01-24 EFO:0009681 post term pregnancy skos:exactMatch DOID:9002082 Prolonged Pregnancy semapv:ManualMappingCuration 2023-12-04 EFO:0009682 pregnancy disorder skos:exactMatch DOID:9004702 Pregnancy Complications semapv:ManualMappingCuration 2023-12-04 EFO:0009683 puerperal disorder skos:exactMatch DOID:9001791 Puerperal Disorders semapv:ManualMappingCuration 2023-12-04 EFO:0009684 quadriplegia skos:exactMatch DOID:12835 quadriplegia semapv:ManualMappingCuration 2022-01-24 EFO:0009685 rectal disease skos:exactMatch DOID:1285 rectal disease semapv:ManualMappingCuration 2022-01-24 EFO:0009686 respiratory failure skos:exactMatch DOID:11162 respiratory failure semapv:ManualMappingCuration 2022-01-24 EFO:0009687 somatoform disorder skos:exactMatch DOID:4737 somatoform disorder semapv:ManualMappingCuration 2022-01-24 EFO:0009688 stomatitis skos:exactMatch DOID:9637 stomatitis semapv:ManualMappingCuration 2022-01-24 EFO:0009689 urethral disease skos:exactMatch DOID:732 urethral disease semapv:ManualMappingCuration 2022-01-24 EFO:0009690 urinary system disease skos:exactMatch DOID:18 urinary system disease semapv:ManualMappingCuration 2022-01-24 EFO:0009691 vestibular disease skos:exactMatch DOID:3426 vestibular disease semapv:ManualMappingCuration 2022-01-24 EFO:0009692 voice disorders skos:exactMatch DOID:9006046 Voice Disorders semapv:ManualMappingCuration 2023-12-04 EFO:0009704 radiation-induced brain injury skos:exactMatch DOID:9002894 radiation-induced brain injury semapv:ManualMappingCuration 2023-12-04 EFO:0009705 small intestine enteropathy skos:exactMatch DOID:5295 intestinal disease semapv:ManualMappingCuration 2023-12-04 EFO:0009706 latent autoimmune diabetes in adults skos:exactMatch DOID:0080846 latent autoimmune diabetes in adults semapv:ManualMappingCuration 2023-12-04 EFO:0009707 fractures, ununited skos:exactMatch DOID:9007932 Ununited Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0009708 metastasis skos:exactMatch DOID:9000965 Neoplasm Metastasis semapv:ManualMappingCuration 2023-12-04 EFO:0009709 metastatic neoplasm skos:exactMatch DOID:9000965 Neoplasm Metastasis semapv:ManualMappingCuration 2023-12-04 EFO:0009710 micrometastasis skos:exactMatch DOID:9008726 Neoplasm Micrometastasis semapv:ManualMappingCuration 2023-12-04 EFO:0009714 chronic disease skos:exactMatch DOID:9000144 Chronic Disease semapv:ManualMappingCuration 2023-12-04 EFO:0009715 wheezing skos:exactMatch DOID:9003157 Respiratory Sounds semapv:ManualMappingCuration 2023-12-04 EFO:0009727 shortness of breath skos:exactMatch DOID:9000590 Dyspnea semapv:ManualMappingCuration 2023-12-04 EFO:0009730 polyarticular juvenile idiopathic arthritis skos:exactMatch DOID:676 juvenile rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:0009731 polyarticular juvenile idiopathic arthritis, rheumatoid factor positive skos:exactMatch DOID:676 juvenile rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:0009732 enthesitis-related juvenile idiopathic arthritis skos:exactMatch DOID:676 juvenile rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:0009733 psoriasis-related juvenile idiopathic arthritis skos:exactMatch DOID:676 juvenile rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:0009734 unspecified juvenile idiopathic arthritis skos:exactMatch DOID:676 juvenile rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:0009746 extended oligoarticular juvenile idiopathic arthritis skos:exactMatch DOID:676 juvenile rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:0009757 idiopathic type 1 diabetes skos:exactMatch DOID:9744 type 1 diabetes mellitus semapv:ManualMappingCuration 2023-12-04 EFO:0009758 fulminant type 1 diabetes skos:exactMatch DOID:9008637 fulminant type 1 diabetes semapv:ManualMappingCuration 2023-12-04 EFO:0009759 Chronic Obstructive Asthma skos:exactMatch DOID:0080809 chronic asthma semapv:ManualMappingCuration 2023-12-04 EFO:0009760 non-proliferative diabetic retinopathy skos:exactMatch DOID:13208 background diabetic retinopathy semapv:ManualMappingCuration 2023-12-04 EFO:0009761 periprosthetic osteolysis skos:exactMatch DOID:9003852 periprosthetic osteolysis semapv:ManualMappingCuration 2023-12-04 EFO:0009780 HER2 negative breast carcinoma skos:exactMatch DOID:0060080 Her2-receptor negative breast cancer semapv:ManualMappingCuration 2022-07-21 EFO:0009781 progesterone-receptor negative breast cancer skos:exactMatch DOID:0060078 progesterone-receptor negative breast cancer semapv:ManualMappingCuration 2022-01-24 EFO:0009782 progesterone-receptor positive breast cancer skos:exactMatch DOID:0060077 progesterone-receptor positive breast cancer semapv:ManualMappingCuration 2023-12-04 EFO:0009783 carotid atherosclerosis skos:exactMatch DOID:9006778 Carotid Atherosclerosis semapv:ManualMappingCuration 2023-12-04 EFO:0009784 central serous retinopathy skos:exactMatch DOID:9003248 Central Serous Chorioretinopathy semapv:ManualMappingCuration 2023-12-04 EFO:0009797 lung disease associated with cystic fibrosis skos:exactMatch DOID:1485 cystic fibrosis semapv:ManualMappingCuration 2023-12-04 EFO:0009833 kidney injury skos:exactMatch DOID:557 kidney disease semapv:ManualMappingCuration 2023-12-04 EFO:0009839 bradypnea skos:exactMatch DOID:9003280 bradypnea semapv:ManualMappingCuration 2023-12-04 EFO:0009840 tachypnea skos:exactMatch DOID:9008811 Tachypnea semapv:ManualMappingCuration 2023-12-04 EFO:0009842 respiratory depression skos:exactMatch DOID:11162 respiratory failure semapv:ManualMappingCuration 2023-12-04 EFO:0009845 catalepsy skos:exactMatch DOID:9003805 Catalepsy semapv:ManualMappingCuration 2023-12-04 EFO:0009846 muscle cramp skos:exactMatch DOID:9000373 Muscle Cramp semapv:ManualMappingCuration 2023-12-04 EFO:0009847 dizziness skos:exactMatch DOID:9004211 Dizziness semapv:ManualMappingCuration 2023-12-04 EFO:0009851 muscle atrophy skos:exactMatch DOID:767 muscular atrophy semapv:ManualMappingCuration 2023-12-04 EFO:0009854 treatment resistant depression skos:exactMatch DOID:1826 epilepsy semapv:ManualMappingCuration 2023-12-04 EFO:0009854 treatment resistant depression skos:exactMatch DOID:9007883 Depressive Disorder, Treatment-Resistant semapv:ManualMappingCuration 2023-12-04 EFO:0009855 frontal fibrosing alopecia skos:exactMatch DOID:9000209 frontal fibrosing alopecia semapv:ManualMappingCuration 2023-12-04 EFO:0009856 lichen planopilaris skos:exactMatch DOID:9001311 Lichen Planus Follicularis semapv:ManualMappingCuration 2023-12-04 EFO:0009867 dysphoria skos:exactMatch DOID:9005268 dysphoria semapv:ManualMappingCuration 2023-12-04 EFO:0009869 xerostomia skos:exactMatch DOID:9006511 Xerostomia semapv:ManualMappingCuration 2023-12-04 EFO:0009870 bone metastasis skos:exactMatch DOID:9007482 Bone Metastasis semapv:ManualMappingCuration 2023-12-04 EFO:0009875 thymus atrophy skos:exactMatch DOID:7350 thymic dysplasia semapv:ManualMappingCuration 2023-12-04 EFO:0009879 gastric hemorrhage skos:exactMatch DOID:9007598 gastric hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0009881 nonischemic cardiomyopathy skos:exactMatch DOID:9003717 nonischemic cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:0009894 carbamazepine-induced hyponatremia skos:exactMatch DOID:9006635 Hyponatremia semapv:ManualMappingCuration 2023-12-04 EFO:0009895 oxcarbazepine-induced hyponatremia skos:exactMatch DOID:9006635 Hyponatremia semapv:ManualMappingCuration 2023-12-04 EFO:0009903 inflammatory disease skos:exactMatch DOID:9005372 Inflammation semapv:ManualMappingCuration 2023-12-04 EFO:0009904 Lopes-Maciel-Rodan syndrome skos:exactMatch DOID:9000409 Lopes-Maciel-Rodan Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009907 Desmoid-type fibromatosis skos:exactMatch DOID:0080366 desmoid tumor semapv:ManualMappingCuration 2022-01-24 EFO:0009908 glabellar hemangioma skos:exactMatch DOID:255 hemangioma semapv:ManualMappingCuration 2023-12-04 EFO:0009909 stage 5 chronic kidney disease skos:exactMatch DOID:783 end stage renal disease semapv:ManualMappingCuration 2023-12-04 EFO:0009910 chronic lung disease skos:exactMatch DOID:850 lung disease semapv:ManualMappingCuration 2023-12-04 EFO:0009911 hereditary nonpolyposis colorectal carcinoma skos:exactMatch DOID:3883 Lynch syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0009912 distal lower limb amyotrophy skos:exactMatch DOID:767 muscular atrophy semapv:ManualMappingCuration 2023-12-04 EFO:0009912 distal lower limb amyotrophy skos:exactMatch DOID:913 atrophic muscular disease semapv:ManualMappingCuration 2023-12-04 EFO:0009948 chorioamnionitis skos:exactMatch DOID:0050697 chorioamnionitis semapv:ManualMappingCuration 2022-01-24 EFO:0009953 post-operative myocardial infarction skos:exactMatch DOID:5844 myocardial infarction semapv:ManualMappingCuration 2023-12-04 EFO:0009954 post-operative delirium skos:exactMatch DOID:9006358 Postoperative Cognitive Dysfunction semapv:ManualMappingCuration 2023-12-04 EFO:0009955 post-operative acute kidney injury skos:exactMatch DOID:3021 acute kidney failure semapv:ManualMappingCuration 2023-12-04 EFO:0009956 post-operative stroke skos:exactMatch DOID:9007096 Stroke semapv:ManualMappingCuration 2023-12-04 EFO:0009959 diverticular disease skos:exactMatch DOID:9007768 Colonic Diverticulosis semapv:ManualMappingCuration 2023-12-04 EFO:0009960 atypical femoral fracture skos:exactMatch DOID:9001166 atypical femoral fracture semapv:ManualMappingCuration 2023-12-04 EFO:0009963 bipolar I disorder skos:exactMatch DOID:14042 bipolar I disorder semapv:ManualMappingCuration 2022-01-24 EFO:0009964 bipolar II disorder skos:exactMatch DOID:0060166 bipolar ll disorder semapv:ManualMappingCuration 2022-01-24 EFO:0009965 Schizoaffective disorder-bipolar type skos:exactMatch DOID:9002705 schizoaffective disorder, bipolar type semapv:ManualMappingCuration 2023-12-04 EFO:0010060 chronic human papillomavirus infection skos:exactMatch DOID:11166 papillomavirus infectious disease semapv:ManualMappingCuration 2023-12-04 EFO:0010072 toothache skos:exactMatch DOID:9008251 Toothache semapv:ManualMappingCuration 2023-12-04 EFO:0010098 stress-related disorder skos:exactMatch DOID:9001131 stress-related disorder semapv:ManualMappingCuration 2023-12-04 EFO:0010099 chronic widespread pain skos:exactMatch DOID:9008520 Chronic Pain semapv:ManualMappingCuration 2023-12-04 EFO:0010100 multisite chronic pain skos:exactMatch DOID:9008520 Chronic Pain semapv:ManualMappingCuration 2023-12-04 EFO:0010133 diabetic maculopathy skos:exactMatch DOID:9003638 diabetic maculopathy semapv:ManualMappingCuration 2023-12-04 EFO:0010143 chronic mountain sickness skos:exactMatch DOID:9005785 Altitude Sickness semapv:ManualMappingCuration 2023-12-04 EFO:0010163 dilatation of the sinus of Valsalva skos:exactMatch DOID:14004 thoracic aortic aneurysm semapv:ManualMappingCuration 2023-12-04 EFO:0010164 insulin-resistant diabetes mellitus skos:exactMatch DOID:9352 type 2 diabetes mellitus semapv:ManualMappingCuration 2023-12-04 EFO:0010166 Warburg-Cinotti syndrome skos:exactMatch DOID:9000662 Warburg-Cinotti Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0010167 squalene synthase deficiency skos:exactMatch DOID:9007732 Squalene Synthase Deficiency semapv:ManualMappingCuration 2023-12-04 EFO:0010168 spondyloepiphyseal dysplasia, Kondo-Fu type skos:exactMatch DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type semapv:ManualMappingCuration 2023-12-04 EFO:0010176 keratinocyte carcinoma skos:exactMatch DOID:3451 skin carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:0010177 lobar intracerebral hemorrhage skos:exactMatch DOID:9006918 lobar intracerebral hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0010178 non-lobar intracerebral hemorrhage skos:exactMatch DOID:9002676 Cerebral Hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0010238 perinatal disease skos:exactMatch DOID:9003548 Infant, Newborn, Diseases semapv:ManualMappingCuration 2023-12-04 EFO:0010248 spinocerebellar ataxia, autosomal recessive, 27 skos:exactMatch DOID:0111616 autosomal recessive spinocerebellar ataxia 27 semapv:ManualMappingCuration 2023-12-04 EFO:0010249 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:exactMatch DOID:0070465 spinocerebellar ataxia with axonal neuropathy type 3 semapv:ManualMappingCuration 2023-12-04 EFO:0010250 polydactyly, postaxial, A9 skos:exactMatch DOID:9002200 Postaxial Polydactyly, Type A9 semapv:ManualMappingCuration 2023-12-04 EFO:0010251 spinocerebellar ataxia 48 skos:exactMatch DOID:0111746 cerebellar ataxia type 48 semapv:ManualMappingCuration 2023-12-04 EFO:0010252 Menke-Hennekam syndrome 1 skos:exactMatch DOID:9008974 Menke-Hennekam Syndrome 1 semapv:ManualMappingCuration 2023-12-04 EFO:0010253 Menke-Hennekam syndrome 2 skos:exactMatch DOID:9000493 Menke-Hennekam Syndrome 2 semapv:ManualMappingCuration 2023-12-04 EFO:0010255 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:exactMatch DOID:9007390 Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression semapv:ManualMappingCuration 2023-12-04 EFO:0010256 neurodegeneration, childhood-onset, with cerebellar atrophy skos:exactMatch DOID:9000084 Childhood-Onset Neurodegeneration with Cerebellar Atrophy semapv:ManualMappingCuration 2023-12-04 EFO:0010257 global developmental delay, progressive ataxia, and elevated glutamine skos:exactMatch DOID:9005979 Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine semapv:ManualMappingCuration 2023-12-04 EFO:0010258 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:exactMatch DOID:9009237 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY semapv:ManualMappingCuration 2023-12-04 EFO:0010259 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:exactMatch DOID:9009239 Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay semapv:ManualMappingCuration 2023-12-04 EFO:0010260 global developmental delay with or without impaired intellectual development skos:exactMatch DOID:9008363 GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT semapv:ManualMappingCuration 2023-12-04 EFO:0010261 Paganini-Miozzo syndrome skos:exactMatch DOID:0111843 Paganini-Miozzo syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0010262 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:exactMatch DOID:9000912 Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate semapv:ManualMappingCuration 2023-12-04 EFO:0010263 gastrointestinal ulceration, recurrent, with dysfunctional platelets skos:exactMatch DOID:9000368 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets semapv:ManualMappingCuration 2023-12-04 EFO:0010264 spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant skos:exactMatch DOID:0070350 spinal muscular atrophy with lower extremity predominant 2B semapv:ManualMappingCuration 2023-12-04 EFO:0010266 Charcot-Marie-Tooth disease type 1G skos:exactMatch DOID:0111560 Charcot-Marie-Tooth disease type 1G semapv:ManualMappingCuration 2023-12-04 EFO:0010267 autosomal dominant intermediate Charcot-Marie-Tooth disease type G skos:exactMatch DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G semapv:ManualMappingCuration 2023-12-04 EFO:0010268 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:exactMatch DOID:9005822 BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS semapv:ManualMappingCuration 2023-12-04 EFO:0010269 amenorrhea skos:exactMatch DOID:13938 amenorrhea semapv:ManualMappingCuration 2023-12-04 EFO:0010274 thoracic aortic artery calcification skos:exactMatch DOID:9000815 Aortic Calcification semapv:ManualMappingCuration 2023-12-04 EFO:0010276 neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements skos:exactMatch DOID:9001474 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements semapv:ManualMappingCuration 2023-12-04 EFO:0010277 O'Donnell-Luria-Rodan syndrome skos:exactMatch DOID:9001969 O'Donnell-Luria-Rodan Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0010278 Shukla-Vernon syndrome skos:exactMatch DOID:0111841 Shukla-Vernon syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0010279 GIST-plus syndrome skos:exactMatch DOID:9008257 Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal semapv:ManualMappingCuration 2023-12-04 EFO:0010280 intellectual developmental disorder, autosomal recessive 71 skos:exactMatch DOID:0081232 autosomal recessive intellectual developmental disorder 71 semapv:ManualMappingCuration 2023-12-04 EFO:0010282 gastrointestinal disease skos:exactMatch DOID:77 gastrointestinal system disease semapv:ManualMappingCuration 2022-01-24 EFO:0010283 blood disease skos:exactMatch DOID:74 hematopoietic system disease semapv:ManualMappingCuration 2023-12-04 EFO:0010284 hepatobiliary disease skos:exactMatch DOID:3118 hepatobiliary disease semapv:ManualMappingCuration 2022-01-24 EFO:0010285 integumentary system disease skos:exactMatch DOID:16 integumentary system disease semapv:ManualMappingCuration 2022-01-24 EFO:0010445 cocaine use disorder skos:exactMatch DOID:9005632 Cocaine-Related Disorders semapv:ManualMappingCuration 2023-12-04 EFO:0010560 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:exactMatch DOID:9008370 NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY semapv:ManualMappingCuration 2023-12-04 EFO:0010561 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:exactMatch DOID:0070346 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies semapv:ManualMappingCuration 2023-12-04 EFO:0010562 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:exactMatch DOID:9009083 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY semapv:ManualMappingCuration 2023-12-04 EFO:0010563 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:exactMatch DOID:9002267 Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies semapv:ManualMappingCuration 2023-12-04 EFO:0010564 glycosylphosphatidylinositol biosynthesis defect 21 skos:exactMatch DOID:9007893 Glycosylphosphatidylinositol Biosynthesis Defect 21 semapv:ManualMappingCuration 2023-12-04 EFO:0010565 myopathy, congenital, progressive, with scoliosis skos:exactMatch DOID:0081351 congenital myopathy 19 semapv:ManualMappingCuration 2023-12-04 EFO:0010566 intellectual developmental disorder 60 with seizures skos:exactMatch DOID:9000911 Autosomal Dominant Intellectual Developmental Disorder 60 semapv:ManualMappingCuration 2023-12-04 EFO:0010567 spastic tetraplegia and axial hypotonia, progressive skos:exactMatch DOID:9000578 SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE semapv:ManualMappingCuration 2023-12-04 EFO:0010568 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:exactMatch DOID:9000637 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES semapv:ManualMappingCuration 2023-12-04 EFO:0010580 blastic plasmacytoid dendritic cell neoplasm skos:exactMatch DOID:0081076 blastic plasmacytoid dendritic cell neoplasm semapv:ManualMappingCuration 2023-04-17 EFO:0010581 organophosphate poisoning skos:exactMatch DOID:9005292 Organophosphate Poisoning semapv:ManualMappingCuration 2023-12-04 EFO:0010582 Morton Neuroma skos:exactMatch DOID:9004916 Morton Neuroma semapv:ManualMappingCuration 2023-12-04 EFO:0010630 intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies skos:exactMatch DOID:9003704 Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies semapv:ManualMappingCuration 2023-12-04 EFO:0010631 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:exactMatch DOID:9001150 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES semapv:ManualMappingCuration 2023-12-04 EFO:0010632 Lessel-Kubisch syndrome skos:exactMatch DOID:9004277 Lessel-Kubisch Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0010633 Siddiqi syndrome skos:exactMatch DOID:0081273 Siddiqi syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0010634 Snijders Blok-Fisher syndrome skos:exactMatch DOID:9004310 Snijders Blok-Fisher Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0010635 Weiss-Kruszka syndrome skos:exactMatch DOID:9005848 WEISS-KRUSZKA SYNDROME semapv:ManualMappingCuration 2023-12-04 EFO:0010636 pontocerebellar hypoplasia type 13 skos:exactMatch DOID:0112332 pontocerebellar hypoplasia type 13 semapv:ManualMappingCuration 2023-12-04 EFO:0010638 atopic asthma skos:exactMatch DOID:9415 allergic asthma semapv:ManualMappingCuration 2023-12-04 EFO:0010642 Neurodevelopmental disorder skos:exactMatch DOID:9004429 Neurodevelopmental Disorders semapv:ManualMappingCuration 2023-12-04 EFO:0010643 Snijders Blok-Campeau syndrome skos:exactMatch DOID:9001540 Snijders Blok-Campeau Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0010644 Developmental delay with variable intellectual impairment and behavioural abnormalities skos:exactMatch DOID:9004868 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities semapv:ManualMappingCuration 2023-12-04 EFO:0010645 Cardiac-urogenital syndrome skos:exactMatch DOID:9007788 Cardiac-Urogenital Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0010646 genetic non-acquired premature ovarian failure skos:exactMatch DOID:0080873 primary ovarian insufficiency 16 semapv:ManualMappingCuration 2023-12-04 EFO:0010651 intellectual developmental disorder with impaired language and dysmorphic facies skos:exactMatch DOID:9001091 INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES semapv:ManualMappingCuration 2023-12-04 EFO:0010652 intellectual developmental disorder with short stature and behavioral abnormalities skos:exactMatch DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities semapv:ManualMappingCuration 2022-01-24 EFO:0010653 intellectual developmental disorder with speech delay, autism and dysmorphic facies skos:exactMatch DOID:9008787 Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies semapv:ManualMappingCuration 2023-12-04 EFO:0010654 intellectual developmental disorder, autosomal recessive 72 skos:exactMatch DOID:0080765 autosomal recessive intellectual developmental disorder 72 semapv:ManualMappingCuration 2023-12-04 EFO:0010655 megabladder, congenital skos:exactMatch DOID:0112014 congenital megabladder semapv:ManualMappingCuration 2023-12-04 EFO:0010656 mitochondrial complex V deficiency, nuclear type 6 skos:exactMatch DOID:0111749 mitochondrial complex V (ATP synthase) deficiency nuclear type 6 semapv:ManualMappingCuration 2023-12-04 EFO:0010657 neurodevelopmental disorder with absent language and variable seizures skos:exactMatch DOID:9001367 NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES semapv:ManualMappingCuration 2023-12-04 EFO:0010658 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:exactMatch DOID:9006418 NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA semapv:ManualMappingCuration 2023-12-04 EFO:0010659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch DOID:9001002 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES semapv:ManualMappingCuration 2023-12-04 EFO:0010660 neurodevelopmental disorder with macrocephaly and with or without seizures skos:exactMatch DOID:9004521 Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures semapv:ManualMappingCuration 2023-12-04 EFO:0010661 neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures skos:exactMatch DOID:9001694 NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES semapv:ManualMappingCuration 2023-12-04 EFO:0010662 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:exactMatch DOID:0070539 Halperin-Birk syndrome semapv:ManualMappingCuration 2024-07-29 EFO:0010662 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:exactMatch DOID:9004325 Halperin-Birk Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0010663 neurooculocardiogenitourinary syndrome skos:exactMatch DOID:0111675 neurooculocardiogenitourinary syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0010664 pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5 skos:exactMatch DOID:9009112 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 semapv:ManualMappingCuration 2023-12-04 EFO:0010665 short stature and microcephaly with genital anomalies skos:exactMatch DOID:9004567 Short Stature and Microcephaly with Genital Anomalies semapv:ManualMappingCuration 2023-12-04 EFO:0010675 chronic venous hypertension skos:exactMatch DOID:9001465 chronic venous hypertension semapv:ManualMappingCuration 2023-12-04 EFO:0010680 hematoma skos:exactMatch DOID:9006013 Hematoma semapv:ManualMappingCuration 2023-12-04 EFO:0010684 malunion fracture skos:exactMatch DOID:9001758 Malunited Fractures semapv:ManualMappingCuration 2023-12-04 EFO:0010685 menopausal or post-menopausal disease skos:exactMatch DOID:229 female reproductive system disease semapv:ManualMappingCuration 2023-12-04 EFO:0010687 neonatal erythema toxicum skos:exactMatch DOID:37 skin disease semapv:ManualMappingCuration 2023-12-04 EFO:0010688 periapical tissue disease skos:exactMatch DOID:9002699 Periapical Diseases semapv:ManualMappingCuration 2023-12-04 EFO:0010689 perineum disease skos:exactMatch DOID:7 disease of anatomical entity semapv:ManualMappingCuration 2023-12-04 EFO:0010693 tooth-supporting structures disease skos:exactMatch DOID:3388 periodontal disease semapv:ManualMappingCuration 2023-12-04 EFO:0010698 retinal break skos:exactMatch DOID:12514 retinal perforation semapv:ManualMappingCuration 2023-12-04 EFO:0010702 opioid use disorder skos:exactMatch DOID:11206 opioid abuse semapv:ManualMappingCuration 2023-12-04 EFO:0010716 coinfection skos:exactMatch DOID:9000465 Coinfection semapv:ManualMappingCuration 2023-12-04 EFO:0010723 ocular sarcoidosis skos:exactMatch DOID:9002459 ocular sarcoidosis semapv:ManualMappingCuration 2023-12-04 EFO:0010737 autoinflammation with episodic fever and lymphadenopathy skos:exactMatch DOID:9004604 Autoinflammation with Episodic Fever and Lymphadenopathy semapv:ManualMappingCuration 2023-12-04 EFO:0010738 retinal dystrophy with leukodystrophy skos:exactMatch DOID:0080946 retinal dystrophy with leukodystrophy semapv:ManualMappingCuration 2023-12-04 EFO:0010739 epilepsy, early-onset, with or without developmental delay skos:exactMatch DOID:0070471 early-onset epilepsy 2 semapv:ManualMappingCuration 2023-12-04 EFO:0010740 Diets-Jongmans syndrome skos:exactMatch DOID:9005801 Diets-Jongmans Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0010820 spontaneous coronary artery dissection skos:exactMatch DOID:9005332 Spontaneous Coronary Artery Dissection semapv:ManualMappingCuration 2023-12-04 EFO:0010822 stenosing tenosynovitis skos:exactMatch DOID:9004608 Tendon Entrapment semapv:ManualMappingCuration 2023-12-04 EFO:0010826 cystine urolithiasis skos:exactMatch DOID:9266 cystinuria semapv:ManualMappingCuration 2023-12-04 EFO:0010828 myofibrillar myopathy 9 with early respiratory failure skos:exactMatch DOID:0111188 myofibrillar myopathy 9 semapv:ManualMappingCuration 2023-12-04 EFO:0010830 lobular capilliary hemangioma skos:exactMatch DOID:9001866 Pyogenic Granuloma semapv:ManualMappingCuration 2023-12-04 EFO:0010831 testicular mixed germ cell tumor skos:exactMatch DOID:4743 mixed testicular germ cell tumor semapv:ManualMappingCuration 2022-01-24 EFO:0010832 primary central chondrosarcoma skos:exactMatch DOID:0050897 bone chondrosarcoma semapv:ManualMappingCuration 2023-12-04 EFO:0010833 uterine corpus undifferentiated sarcoma skos:exactMatch DOID:5165 uterine corpus sarcoma semapv:ManualMappingCuration 2023-12-04 EFO:0010941 metastasis sample skos:exactMatch DOID:9000965 Neoplasm Metastasis semapv:ManualMappingCuration 2023-12-04 EFO:0010953 autosomal recessive dilated cardiomyopathy skos:exactMatch DOID:12930 dilated cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:0010954 cask-related x-linked intellectual disability skos:exactMatch DOID:0060807 syndromic X-linked intellectual disability Najm type semapv:ManualMappingCuration 2023-12-04 EFO:0010954 cask-related x-linked intellectual disability skos:exactMatch DOID:9001153 FG Syndrome 4 semapv:ManualMappingCuration 2023-12-04 EFO:0010955 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 skos:exactMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:ManualMappingCuration 2023-12-04 EFO:0010956 peroxisome biogenesis disorder, complementation group 7 skos:exactMatch DOID:906 peroxisomal disease semapv:ManualMappingCuration 2023-12-04 EFO:0010977 macrovascular complications of diabetes skos:exactMatch DOID:11713 diabetic angiopathy semapv:ManualMappingCuration 2023-12-04 EFO:0011023 concussion skos:exactMatch DOID:9008967 Brain Concussion semapv:ManualMappingCuration 2023-12-04 EFO:0011047 central nervous system toxicity skos:exactMatch DOID:9000948 central nervous system toxicity semapv:ManualMappingCuration 2023-12-04 EFO:0011049 drug misuse skos:exactMatch DOID:302 substance abuse semapv:ManualMappingCuration 2023-12-04 EFO:0011050 gastrointestinal toxicity skos:exactMatch DOID:9008632 gastrointestinal toxicity semapv:ManualMappingCuration 2023-12-04 EFO:0011052 hepatotoxicity skos:exactMatch DOID:9007383 Chemical and Drug Induced Liver Injury semapv:ManualMappingCuration 2023-12-04 EFO:0011054 metabolic toxicity skos:exactMatch DOID:0014667 disease of metabolism semapv:ManualMappingCuration 2023-12-04 EFO:0011055 musculoskeletal toxicity skos:exactMatch DOID:9008906 Myotoxicity semapv:ManualMappingCuration 2023-12-04 EFO:0011056 nephrotoxicity skos:exactMatch DOID:9006956 nephrotoxicity semapv:ManualMappingCuration 2023-12-04 EFO:0011057 neurotoxicity skos:exactMatch DOID:9007553 neurotoxicity semapv:ManualMappingCuration 2023-12-04 EFO:0011059 psychiatric toxicity skos:exactMatch DOID:303 substance-related disorder semapv:ManualMappingCuration 2023-12-04 EFO:0011060 respiratory toxicity skos:exactMatch DOID:9001219 respiratory toxicity semapv:ManualMappingCuration 2023-12-04 EFO:0011062 vascular toxicity skos:exactMatch DOID:9007471 vascular toxicity semapv:ManualMappingCuration 2023-12-04 EFO:0011063 recessive lissencephaly skos:exactMatch DOID:0050453 lissencephaly semapv:ManualMappingCuration 2023-12-04 EFO:0011064 recessive spherocytosis skos:exactMatch DOID:12971 hereditary spherocytosis semapv:ManualMappingCuration 2023-12-04 EFO:0020000 developmental and epileptic encephalopathy 94 skos:exactMatch DOID:0081325 developmental and epileptic encephalopathy 94 semapv:ManualMappingCuration 2023-12-04 EFO:0020003 drug toxicity skos:exactMatch DOID:9006810 Drug-Related Side Effects and Adverse Reactions semapv:ManualMappingCuration 2023-12-04 EFO:0020005 pheochromocytoma-paraganglioma skos:exactMatch DOID:0050773 paraganglioma semapv:ManualMappingCuration 2023-12-04 EFO:0020006 enterocele skos:exactMatch DOID:1283 enterocele semapv:ManualMappingCuration 2022-01-24 EFO:0020025 central hypoventilation syndrome, late-onset skos:exactMatch DOID:0060731 congenital central hypoventilation syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0020026 autosomal recessive retinitis pigmentosa skos:exactMatch DOID:10584 retinitis pigmentosa semapv:ManualMappingCuration 2023-12-04 EFO:0020027 susceptibility to partial acquired lipodystrophy skos:exactMatch DOID:0080299 partial lipodystrophy semapv:ManualMappingCuration 2023-12-04 EFO:0020028 autosomal dominant retinitis pigmentosa skos:exactMatch DOID:10584 retinitis pigmentosa semapv:ManualMappingCuration 2023-12-04 EFO:0020029 autosomal recessive cone rod dystrophy skos:exactMatch DOID:0050572 cone-rod dystrophy semapv:ManualMappingCuration 2023-12-04 EFO:0020030 tubulinopathy skos:exactMatch DOID:0112227 tubulinopathy semapv:ManualMappingCuration 2022-01-24 EFO:0020031 mononeuropathy of the median nerve skos:exactMatch DOID:571 median neuropathy semapv:ManualMappingCuration 2023-12-04 EFO:0020032 autosomal recessive transient neonatal diabetes mellitus skos:exactMatch DOID:0060334 transient neonatal diabetes mellitus semapv:ManualMappingCuration 2023-12-04 EFO:0020034 familial Behcet-like autoinflammatory syndrome skos:exactMatch DOID:0080944 familial Behcet-like autoinflammatory syndrome 1 semapv:ManualMappingCuration 2022-01-24 EFO:0020035 autosomal dominant common variable immunodeficiency skos:exactMatch DOID:12177 common variable immunodeficiency semapv:ManualMappingCuration 2023-12-04 EFO:0020036 autosomal recessive nemaline myopathy skos:exactMatch DOID:3191 nemaline myopathy semapv:ManualMappingCuration 2023-12-04 EFO:0020037 autosominal recessive combined pituitary hormone deficiency skos:exactMatch DOID:9003666 Combined Pituitary Hormone Deficiency semapv:ManualMappingCuration 2023-12-04 EFO:0020037 autosominal recessive combined pituitary hormone deficiency skos:exactMatch DOID:9410 panhypopituitarism semapv:ManualMappingCuration 2024-07-29 EFO:0020038 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 skos:exactMatch DOID:9000803 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 semapv:ManualMappingCuration 2023-12-04 EFO:0020039 neuronal ceroid-lipofuscinosis, dominant/recessive skos:exactMatch DOID:891 progressive myoclonus epilepsy semapv:ManualMappingCuration 2023-12-04 EFO:0020040 transient neonatal diabetes, dominant/recessive skos:exactMatch DOID:0060334 transient neonatal diabetes mellitus semapv:ManualMappingCuration 2023-12-04 EFO:0020041 congenital myasthenic syndrome, dominant/recessive skos:exactMatch DOID:3635 congenital myasthenic syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0020092 neuroinflammatory disorder skos:exactMatch DOID:0060004 autoimmune disease of central nervous system semapv:ManualMappingCuration 2023-04-17 EFO:0020101 parenchymal hematoma skos:exactMatch DOID:9002676 Cerebral Hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:0020858 spastic paraplegia 84, autosomal recessive skos:exactMatch DOID:0112347 hereditary spastic paraplegia 84 semapv:ManualMappingCuration 2023-12-04 EFO:0020910 thermal burn skos:exactMatch DOID:9007730 Burns semapv:ManualMappingCuration 2023-12-04 EFO:0020911 overdose skos:exactMatch DOID:9001189 Drug Overdose semapv:ManualMappingCuration 2023-12-04 EFO:0020914 disorientation skos:exactMatch DOID:9000348 Confusion semapv:ManualMappingCuration 2023-12-04 EFO:0020915 uterine hyperstimulation skos:exactMatch DOID:9004403 uterine hyperstimulation semapv:ManualMappingCuration 2023-12-04 EFO:0020918 non-allergic anaphylaxis skos:exactMatch DOID:9007278 Anaphylaxis semapv:ManualMappingCuration 2023-12-04 EFO:0020919 subacute myelo-opticoneuropathy skos:exactMatch DOID:1289 neurodegenerative disease semapv:ManualMappingCuration 2023-12-04 EFO:0020921 hemorrhagic stroke skos:exactMatch DOID:9000627 hemorrhagic stroke semapv:ManualMappingCuration 2023-12-04 EFO:0020924 intentional overdose skos:exactMatch DOID:9001189 Drug Overdose semapv:ManualMappingCuration 2023-12-04 EFO:0020925 angina unstable skos:exactMatch DOID:8805 intermediate coronary syndrome semapv:ManualMappingCuration 2023-12-04 EFO:0020926 noninfective encephalitis skos:exactMatch DOID:9588 encephalitis semapv:ManualMappingCuration 2023-12-04 EFO:0020927 skin reaction skos:exactMatch DOID:2773 contact dermatitis semapv:ManualMappingCuration 2023-12-04 EFO:0020937 inherited macular dystrophy skos:exactMatch DOID:4448 macular degeneration semapv:ManualMappingCuration 2023-12-04 EFO:0020971 internalizing disorder skos:exactMatch DOID:9001431 internalizing disorder semapv:ManualMappingCuration 2023-12-04 EFO:0021425 pigmentary glaucoma skos:exactMatch DOID:1067 open-angle glaucoma semapv:ManualMappingCuration 2023-12-04 EFO:0021431 adult hypophosphatasia skos:exactMatch DOID:0110913 adult hypophosphatasia semapv:ManualMappingCuration 2022-07-21 EFO:0021432 childhood-onset hypophosphatasia skos:exactMatch DOID:0110915 childhood hypophosphatasia semapv:ManualMappingCuration 2023-12-04 EFO:0021433 congenital chronic kidney disease skos:exactMatch DOID:784 chronic kidney disease semapv:ManualMappingCuration 2023-12-04 EFO:0021524 non-alcoholic pancreatitis skos:exactMatch DOID:4989 pancreatitis semapv:ManualMappingCuration 2023-12-04 EFO:0021525 renal overload-type gout skos:exactMatch DOID:13189 gout semapv:ManualMappingCuration 2023-12-04 EFO:0021797 infantile hypophosphatasia skos:exactMatch DOID:0110914 infantile hypophosphatasia semapv:ManualMappingCuration 2023-03-06 EFO:0021801 x-linked warfarin sensitivity skos:exactMatch DOID:0080839 X-linked warfarin sensitivity semapv:ManualMappingCuration 2023-03-06 EFO:0030050 death from disease skos:exactMatch DOID:9000543 Death semapv:ManualMappingCuration 2023-12-04 EFO:0030051 death from other causes skos:exactMatch DOID:9000543 Death semapv:ManualMappingCuration 2023-12-04 EFO:0600032 congenital right-sided heart lesions skos:exactMatch DOID:9008565 Congenital Heart Defects, Multiple Types semapv:ManualMappingCuration 2023-12-04 EFO:0600078 Achilles tendon injury skos:exactMatch DOID:9008331 Tendon Injuries semapv:ManualMappingCuration 2023-12-04 EFO:0600095 primary dental caries skos:exactMatch DOID:217 enamel caries semapv:ManualMappingCuration 2023-12-04 EFO:0600096 permanent dental caries skos:exactMatch DOID:216 dental caries semapv:ManualMappingCuration 2023-12-04 EFO:0700020 Birt-Hogg-Dube syndrome skos:exactMatch DOID:0050676 Birt-Hogg-Dube syndrome semapv:ManualMappingCuration 2023-12-24 EFO:0700022 lysosomal acid lipase deficiency skos:exactMatch DOID:0080217 lysosomal acid lipase deficiency semapv:ManualMappingCuration 2023-12-24 EFO:1000003 Zinc deficiency skos:exactMatch DOID:9003921 Zinc Deficiency semapv:ManualMappingCuration 2023-12-04 EFO:1000012 Rienhoff syndrome skos:exactMatch DOID:0070236 Loeys-Dietz syndrome 5 semapv:ManualMappingCuration 2022-01-24 EFO:1000013 Prinzmetal's angina skos:exactMatch DOID:0111151 Prinzmetal angina semapv:ManualMappingCuration 2022-01-24 EFO:1000014 acidosis skos:exactMatch DOID:9002802 Acidoses semapv:ManualMappingCuration 2023-12-04 EFO:1000016 anaplastic lung carcinoma skos:exactMatch DOID:4556 lung large cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000017 autosomal recessive disease skos:exactMatch DOID:0050737 autosomal recessive disease semapv:ManualMappingCuration 2022-01-24 EFO:1000018 bladder disease skos:exactMatch DOID:365 bladder disease semapv:ManualMappingCuration 2022-01-24 EFO:1000019 breast synovial sarcoma skos:exactMatch DOID:5485 synovial sarcoma semapv:ManualMappingCuration 2023-12-04 EFO:1000020 cecum adenocarcinoma skos:exactMatch DOID:3039 cecum adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000021 cecum carcinoma skos:exactMatch DOID:1519 cecum carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000023 chronic cystitis skos:exactMatch DOID:1680 chronic cystitis semapv:ManualMappingCuration 2022-01-24 EFO:1000024 chronic rhinosinusitis skos:exactMatch DOID:9006771 Chronic Rhinosinusitis semapv:ManualMappingCuration 2023-12-04 EFO:1000025 cystitis skos:exactMatch DOID:1679 cystitis semapv:ManualMappingCuration 2022-01-24 EFO:1000026 diffuse intrinsic pontine glioma skos:exactMatch DOID:0080684 diffuse midline glioma, H3 K27M-mutant semapv:ManualMappingCuration 2023-12-04 EFO:1000026 diffuse intrinsic pontine glioma skos:exactMatch DOID:9004158 diffuse intrinsic pontine glioma semapv:ManualMappingCuration 2023-12-04 EFO:1000027 ependymal neoplasm skos:exactMatch DOID:9005834 Ependymomas semapv:ManualMappingCuration 2023-12-04 EFO:1000028 ependymoma skos:exactMatch DOID:4844 benign ependymoma semapv:ManualMappingCuration 2022-01-24 EFO:1000028 ependymoma skos:exactMatch DOID:9005834 Ependymomas semapv:ManualMappingCuration 2023-12-04 EFO:1000029 gastric adenosquamous carcinoma skos:exactMatch DOID:5635 gastric adenosquamous carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000030 gastric tubular adenocarcinoma skos:exactMatch DOID:6595 gastric tubular adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000032 granulosa cell tumor skos:exactMatch DOID:2999 granulosa cell tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000034 indeterminate colitis skos:exactMatch DOID:9003001 indeterminate colitis semapv:ManualMappingCuration 2023-12-04 EFO:1000035 infectious colitis skos:exactMatch DOID:9000192 infectious colitis semapv:ManualMappingCuration 2023-12-04 EFO:1000036 lactic acidosis skos:exactMatch DOID:3650 lactic acidosis semapv:ManualMappingCuration 2022-01-24 EFO:1000037 lung carcinoid tumor skos:exactMatch DOID:9006608 Lung Carcinoid Tumors semapv:ManualMappingCuration 2023-12-04 EFO:1000039 meningeal tuberculosis skos:exactMatch DOID:9004501 Meningeal Tuberculosis semapv:ManualMappingCuration 2023-12-04 EFO:1000040 metaplastic breast carcinoma skos:exactMatch DOID:4680 breast metaplastic carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000041 nephrosclerosis skos:exactMatch DOID:11664 nephrosclerosis semapv:ManualMappingCuration 2022-01-24 EFO:1000042 ovarian clear cell adenocarcinoma skos:exactMatch DOID:5304 ovarian clear cell adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000043 ovarian serous cystadenocarcinoma skos:exactMatch DOID:5746 ovarian serous cystadenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000044 pancreatic adenocarcinoma skos:exactMatch DOID:4074 pancreatic adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000045 pancreatic neuroendocrine tumor skos:exactMatch DOID:1799 islet cell tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000046 papillary lung adenocarcinoma skos:exactMatch DOID:5588 lung papillary adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000047 pleomorphic breast carcinoma skos:exactMatch DOID:9004951 breast pleomorphic carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000048 postweaning multisystemic wasting syndrome skos:exactMatch DOID:9002827 Porcine Postweaning Multisystemic Wasting Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1000049 pulmonary tuberculosis skos:exactMatch DOID:2957 pulmonary tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:1000050 renal leiomyoma skos:exactMatch DOID:127 leiomyoma semapv:ManualMappingCuration 2023-12-04 EFO:1000051 reproductive system neoplasm skos:exactMatch DOID:9008651 reproductive system neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000052 sex cord-stromal tumor skos:exactMatch DOID:192 sex cord-gonadal stromal tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000053 squamous cell breast carcinoma skos:exactMatch DOID:5514 breast squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000054 thymic lymphoma skos:exactMatch DOID:10146 thymus lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:1000055 tongue squamous cell carcinoma skos:exactMatch DOID:0050865 tongue squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000057 nasal cavity squamous cell carcinoma skos:exactMatch DOID:5515 nasal cavity squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000058 nasopharyngeal squamous cell carcinoma skos:exactMatch DOID:9009187 Aerodigestive Tract Squamous Cell Carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000059 cervical artery dissection skos:exactMatch DOID:9001528 ARTERIAL DISSECTION semapv:ManualMappingCuration 2023-12-04 EFO:1000060 intestinal disaccharide deficiency and disaccharide malabsorption skos:exactMatch DOID:9868 intestinal disaccharidase deficiency semapv:ManualMappingCuration 2022-01-24 EFO:1000062 lactose intolerance skos:exactMatch DOID:10604 lactose intolerance semapv:ManualMappingCuration 2022-01-24 EFO:1000063 lactose intolerance adult type skos:exactMatch DOID:9006147 Lactose Intolerance, Adult Type semapv:ManualMappingCuration 2023-12-04 EFO:1000064 Acinar Prostate Adenocarcinoma, Foamy Gland Variant skos:exactMatch DOID:3024 prostatic acinar adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000065 Acinar Prostate Mucinous Adenocarcinoma skos:exactMatch DOID:3703 prostate colloid adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000066 ACTH-Producing Pituitary Gland Adenoma skos:exactMatch DOID:7004 ACTH-secreting pituitary adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000067 ACTH-Producing Pituitary Gland Carcinoma skos:exactMatch DOID:6276 malignant ACTH producing neoplasm of pituitary gland semapv:ManualMappingCuration 2022-01-24 EFO:1000068 Acute Leukemia skos:exactMatch DOID:12603 acute leukemia semapv:ManualMappingCuration 2022-01-24 EFO:1000069 Adamantinomatous Craniopharyngioma skos:exactMatch DOID:3846 adamantinous craniopharyngioma semapv:ManualMappingCuration 2023-12-04 EFO:1000070 Adenofibroma skos:exactMatch DOID:2683 adenofibroma semapv:ManualMappingCuration 2022-01-24 EFO:1000071 Adenoid Cystic Breast Carcinoma skos:exactMatch DOID:4877 breast adenoid cystic carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000072 Adenomatoid Odontogenic Tumor skos:exactMatch DOID:9008065 Adenoameloblastoma semapv:ManualMappingCuration 2023-12-04 EFO:1000073 Adenosquamous Carcinoma skos:exactMatch DOID:4830 adenosquamous carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000074 Adrenal Gland Myelolipoma skos:exactMatch DOID:9000055 Myelolipoma semapv:ManualMappingCuration 2023-12-04 EFO:1000075 Adrenal Gland Neuroblastoma skos:exactMatch DOID:5718 adrenal neuroblastoma semapv:ManualMappingCuration 2022-01-24 EFO:1000076 Adrenal Medullary Hyperplasia skos:exactMatch DOID:9004344 Adrenal Medullary Hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000077 AIDS-Related Primary Central Nervous System Lymphoma skos:exactMatch DOID:9000242 Lymphoma, AIDS-Related semapv:ManualMappingCuration 2023-12-04 EFO:1000078 Ameloblastic Carcinoma skos:exactMatch DOID:9005407 Ameloblastic Carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000079 Ampulla of Vater Carcinoma skos:exactMatch DOID:4932 ampulla of Vater carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000080 Anal Melanoma skos:exactMatch DOID:14145 malignant anus melanoma semapv:ManualMappingCuration 2022-01-24 EFO:1000081 Anal Squamous Cell Carcinoma skos:exactMatch DOID:5525 anal squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000082 Anaplastic (Malignant) Meningioma skos:exactMatch DOID:9005493 Anaplastic Meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000084 Angioleiomyoma skos:exactMatch DOID:4265 angiomyoma semapv:ManualMappingCuration 2022-01-24 EFO:1000085 Angiolipoma skos:exactMatch DOID:3616 angiolipoma semapv:ManualMappingCuration 2022-01-24 EFO:1000086 Angiomatous Meningioma skos:exactMatch DOID:6548 angiomatous meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000087 Angiomyxoma skos:exactMatch DOID:9003253 Myxoma semapv:ManualMappingCuration 2023-12-04 EFO:1000088 Appendix Adenocarcinoma skos:exactMatch DOID:3608 appendix adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000089 Appendix Adenoma skos:exactMatch DOID:11240 appendiceal neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000090 Appendix Goblet Cell Carcinoid skos:exactMatch DOID:0050911 appendix carcinoid tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000091 Appendix Hyperplastic Polyp skos:exactMatch DOID:9001642 Intestinal Polyps semapv:ManualMappingCuration 2023-12-04 EFO:1000092 Appendix Neuroendocrine Tumor G1 skos:exactMatch DOID:0050911 appendix carcinoid tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000093 Appendix Villous Adenoma skos:exactMatch DOID:11240 appendiceal neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000094 Ascending Colon Neuroendocrine Tumor G1 skos:exactMatch DOID:9004109 Intestinal Carcinoid Tumors semapv:ManualMappingCuration 2023-12-04 EFO:1000095 Askin Tumor skos:exactMatch DOID:0050608 Askin's tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000096 Atrophy skos:exactMatch DOID:9004462 Atrophy semapv:ManualMappingCuration 2023-12-04 EFO:1000097 Atypical Carcinoid Tumor skos:exactMatch DOID:9007787 Carcinoid Tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000098 Atypical Endometrial Hyperplasia skos:exactMatch DOID:0080365 endometrial hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000099 Atypical Lipomatous Tumor skos:exactMatch DOID:5690 well-differentiated liposarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1000100 Atypical Lobular Breast Hyperplasia skos:exactMatch DOID:3010 lobular neoplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000101 Atypical Meningioma skos:exactMatch DOID:9005143 Atypical Meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000102 B-Cell Prolymphocytic Leukemia skos:exactMatch DOID:0081041 B-cell prolymphocytic leukemia semapv:ManualMappingCuration 2023-03-17 EFO:1000103 Bartholin Gland Carcinoma skos:exactMatch DOID:3999 Bartholin's gland carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000103 Bartholin Gland Carcinoma skos:exactMatch DOID:60003 Bartholin's gland cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000104 Bartholin Gland Squamous Cell Carcinoma skos:exactMatch DOID:6961 Bartholin's gland squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000106 Benign Adrenal Gland Pheochromocytoma skos:exactMatch DOID:0050771 pheochromocytoma semapv:ManualMappingCuration 2023-12-04 EFO:1000107 Benign Brain Neoplasm skos:exactMatch DOID:9007502 Brain Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000108 Benign Carotid Body Paraganglioma skos:exactMatch DOID:9002162 Carotid Body Tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000110 Benign Conjunctival Neoplasm skos:exactMatch DOID:9007374 Benign Conjunctival Neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000111 Benign Kidney Neoplasm skos:exactMatch DOID:3116 kidney benign neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000112 Benign Ovarian Brenner Tumor skos:exactMatch DOID:2636 ovarian Brenner tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000113 Benign Ovarian Endometrioid Tumor skos:exactMatch DOID:0060112 ovarian benign neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000114 Benign Ovarian Mixed Epithelial Tumor skos:exactMatch DOID:6211 mixed epithelial tumor of ovary semapv:ManualMappingCuration 2023-12-04 EFO:1000115 Benign Ovarian Mucinous Tumor skos:exactMatch DOID:9002755 Benign Ovarian Mucinous Tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000116 Benign Ovarian Neoplasm skos:exactMatch DOID:0060112 ovarian benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000117 Benign Ovarian Surface Epithelial-Stromal Tumor skos:exactMatch DOID:0060112 ovarian benign neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000118 Benign Renal Pelvis Neoplasm skos:exactMatch DOID:5977 renal pelvis benign neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000119 Benign Salivary Gland Myoepithelioma skos:exactMatch DOID:9003216 Salivary Gland Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000121 Benign Smooth Muscle Neoplasm skos:exactMatch DOID:9002022 Benign Smooth Muscle Neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000122 Benign Thyroid Gland Neoplasm skos:exactMatch DOID:9007496 Thyroid Benign Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000123 Bile Duct Adenoma skos:exactMatch DOID:5381 bile duct adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1000124 Biphasic Mesothelioma skos:exactMatch DOID:4486 malignant biphasic mesothelioma semapv:ManualMappingCuration 2022-01-24 EFO:1000125 Bladder Adenocarcinoma skos:exactMatch DOID:3711 bladder adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000126 Bladder Flat Intraepithelial Lesion skos:exactMatch DOID:5429 bladder flat intraepithelial lesion semapv:ManualMappingCuration 2022-01-24 EFO:1000127 Bladder Inflammatory Myofibroblastic Tumor skos:exactMatch DOID:0050905 inflammatory myofibroblastic tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000128 Bladder Paraganglioma skos:exactMatch DOID:0050773 paraganglioma semapv:ManualMappingCuration 2023-12-04 EFO:1000129 Bladder Small Cell Neuroendocrine Carcinoma skos:exactMatch DOID:7132 urinary bladder small cell neuroendocrine carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000130 Bladder Squamous Cell Carcinoma skos:exactMatch DOID:3742 bladder squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000131 Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive skos:exactMatch DOID:9002473 Blast Crisis semapv:ManualMappingCuration 2023-12-04 EFO:1000132 Bone Epithelioid Hemangioma skos:exactMatch DOID:6610 bone epithelioid hemangioma semapv:ManualMappingCuration 2023-12-04 EFO:1000133 Borderline Exocrine Pancreatic Neoplasm skos:exactMatch DOID:9003100 Pancreatic Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000134 Borderline Fallopian Tube Serous Neoplasm skos:exactMatch DOID:0060111 fallopian tube benign neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000135 Borderline Ovarian Brenner Tumor skos:exactMatch DOID:2636 ovarian Brenner tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000136 Borderline Ovarian Clear Cell Tumor skos:exactMatch DOID:5390 clear cell adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000137 Borderline Ovarian Endometrioid Tumor skos:exactMatch DOID:9002762 Ovarian Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000138 Borderline Ovarian Mucinous Tumor skos:exactMatch DOID:6067 ovarian mucinous neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000139 Borderline Ovarian Serous Tumor skos:exactMatch DOID:9002762 Ovarian Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000140 Borderline Ovarian Surface Epithelial-Stromal Tumor skos:exactMatch DOID:9002762 Ovarian Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000141 Brain Stem Glioblastoma skos:exactMatch DOID:4202 brain stem glioma semapv:ManualMappingCuration 2023-12-04 EFO:1000142 Brain Stem Glioma skos:exactMatch DOID:4202 brain stem glioma semapv:ManualMappingCuration 2022-01-24 EFO:1000144 Breast Diffuse Large B-Cell Lymphoma skos:exactMatch DOID:0050745 diffuse large B-cell lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000145 breast fibrosis skos:exactMatch DOID:10353 fibrosclerosis of breast semapv:ManualMappingCuration 2022-01-24 EFO:1000146 Breast Mucosa-Associated Lymphoid Tissue Lymphoma skos:exactMatch DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue semapv:ManualMappingCuration 2023-12-04 EFO:1000148 Calcifying Fibrous Tumor skos:exactMatch DOID:0050871 fibroma semapv:ManualMappingCuration 2023-12-04 EFO:1000149 Calcifying Nested Epithelial Stromal Tumor of the Liver skos:exactMatch DOID:686 liver carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000150 Cardiac Rhabdomyoma skos:exactMatch DOID:9006426 Cardiac Rhabdomyoma semapv:ManualMappingCuration 2023-12-04 EFO:1000151 Cavernous Hemangioma skos:exactMatch DOID:483 cavernous hemangioma semapv:ManualMappingCuration 2022-01-24 EFO:1000152 Cavernous Hemangioma of the Face skos:exactMatch DOID:5776 cavernous hemangioma of face semapv:ManualMappingCuration 2022-01-24 EFO:1000154 Cecum Neuroendocrine Tumor G1 skos:exactMatch DOID:4119 intestinal neuroendocrine benign tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000155 Cecum Villous Adenoma skos:exactMatch DOID:0050910 cecum adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1000156 Central Nervous System Anaplastic Large Cell Lymphoma skos:exactMatch DOID:0050744 anaplastic large cell lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000157 Central Nervous System Lymphoma skos:exactMatch DOID:3234 central nervous system lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:1000158 Central Nervous System Neoplasm skos:exactMatch DOID:9007701 Central Nervous System Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000159 Cerebellar Liponeurocytoma skos:exactMatch DOID:6458 cerebellar liponeurocytoma semapv:ManualMappingCuration 2022-01-24 EFO:1000160 Cervical Adenoid Basal Carcinoma skos:exactMatch DOID:6428 cervical adenoid basal carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000161 Cervical Adenoid Cystic Carcinoma skos:exactMatch DOID:4867 cervical adenoid cystic carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000162 Cervical Adenosquamous Carcinoma skos:exactMatch DOID:5636 cervical adenosquamous carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000163 Cervical Clear Cell Adenocarcinoma skos:exactMatch DOID:5303 cervical clear cell adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000164 Cervical Endometrioid Adenocarcinoma skos:exactMatch DOID:5830 cervical endometrioid adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000165 Cervical Glandular Intraepithelial Neoplasia skos:exactMatch DOID:9005612 Endometrial Intraepithelial Neoplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000167 Cervical Large Cell Neuroendocrine Carcinoma skos:exactMatch DOID:6659 cervical large cell neuroendocrine carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000168 Cervical Metaplasia skos:exactMatch DOID:9000156 Metaplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000169 Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant skos:exactMatch DOID:6627 cervical adenoma malignum semapv:ManualMappingCuration 2022-01-24 EFO:1000170 Cervical Mucinous Adenocarcinoma, Villoglandular Variant skos:exactMatch DOID:8338 villoglandular variant cervical mucinous adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000171 Cervical Small Cell Carcinoma skos:exactMatch DOID:6740 cervix small cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000172 cervical squamous cell carcinoma skos:exactMatch DOID:3744 cervical squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000173 Cervical Wilms Tumor skos:exactMatch DOID:5190 cervical Wilms' tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000174 Chondroid Chordoma skos:exactMatch DOID:4152 chondroid chordoma semapv:ManualMappingCuration 2022-01-24 EFO:1000175 Chondroid Hamartoma skos:exactMatch DOID:9007253 Hamartoma semapv:ManualMappingCuration 2023-12-04 EFO:1000176 Chordoid Meningioma skos:exactMatch DOID:8368 chordoid meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000177 Choroid Plexus Papilloma skos:exactMatch DOID:2626 choroid plexus papilloma semapv:ManualMappingCuration 2023-12-04 EFO:1000178 Chronic Eosinophilic Leukemia, Not Otherwise Specified skos:exactMatch DOID:0080367 chronic eosinophilic leukemia semapv:ManualMappingCuration 2023-12-04 EFO:1000179 Chronic Neutrophilic Leukemia skos:exactMatch DOID:0080187 chronic neutrophilic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:1000180 Clear Cell Meningioma skos:exactMatch DOID:4210 clear cell meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000182 Colon Burkitt Lymphoma skos:exactMatch DOID:8584 Burkitt lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000183 Colon Dysplasia skos:exactMatch DOID:5353 colonic disease semapv:ManualMappingCuration 2023-12-04 EFO:1000184 Colon Inflammatory Polyp skos:exactMatch DOID:9006354 Colon Inflammatory Polyp semapv:ManualMappingCuration 2023-12-04 EFO:1000185 Colon Juvenile Polyp skos:exactMatch DOID:9004271 Colonic Polyps semapv:ManualMappingCuration 2023-12-04 EFO:1000188 Colon Neuroendocrine Tumor G1 skos:exactMatch DOID:4118 colon neuroendocrine neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000189 Colon Sessile Serrated Adenoma/Polyp skos:exactMatch DOID:9004271 Colonic Polyps semapv:ManualMappingCuration 2023-12-04 EFO:1000190 Colorectal Adenosquamous Carcinoma skos:exactMatch DOID:5629 adenosquamous colon carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000191 Colorectal Diffuse Large B-Cell Lymphoma skos:exactMatch DOID:0050745 diffuse large B-cell lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000192 Colorectal Gastrointestinal Stromal Tumor skos:exactMatch DOID:9253 gastrointestinal stromal tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000193 Colorectal Hamartoma skos:exactMatch DOID:9007253 Hamartoma semapv:ManualMappingCuration 2023-12-04 EFO:1000194 Colorectal Juvenile Polyp skos:exactMatch DOID:9001642 Intestinal Polyps semapv:ManualMappingCuration 2023-12-04 EFO:1000195 Colorectal Neuroendocrine Tumor G1 skos:exactMatch DOID:4118 colon neuroendocrine neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000196 Colorectal Serrated Adenocarcinoma skos:exactMatch DOID:0050861 colorectal adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000197 Colorectal Sessile Serrated Adenoma/Polyp skos:exactMatch DOID:0050860 colorectal adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000198 Colorectal Squamous Cell Carcinoma skos:exactMatch DOID:5519 colon squamous cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000199 Columnar Cell Hyperplasia of the Breast skos:exactMatch DOID:9002221 Hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000200 Combined Lung Carcinoma skos:exactMatch DOID:1800 neuroendocrine carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000201 Common Hematopoietic Neoplasm skos:exactMatch DOID:9006532 Hematologic Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000202 Complex Endometrial Hyperplasia skos:exactMatch DOID:0080365 endometrial hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000203 conjunctival disorder skos:exactMatch DOID:4251 conjunctival disease semapv:ManualMappingCuration 2022-01-24 EFO:1000204 Conjunctival Melanoma skos:exactMatch DOID:1751 malignant conjunctival melanoma semapv:ManualMappingCuration 2022-01-24 EFO:1000205 Conjunctival Nevus skos:exactMatch DOID:0050906 conjunctival nevus semapv:ManualMappingCuration 2022-01-24 EFO:1000206 Conjunctival Squamous Cell Carcinoma skos:exactMatch DOID:1748 conjunctival squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000208 Cortisol-Producing Adrenal Cortex Adenoma skos:exactMatch DOID:0050891 adrenal cortical adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000209 Craniopharyngioma skos:exactMatch DOID:3840 craniopharyngioma semapv:ManualMappingCuration 2022-01-24 EFO:1000210 Cribriform Carcinoma skos:exactMatch DOID:5675 cribriform carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000211 Cutaneous Follicular Lymphoma skos:exactMatch DOID:0050873 follicular lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000212 Cutaneous Undifferentiated Pleomorphic Sarcoma skos:exactMatch DOID:1906 malignant skin fibrous histiocytoma semapv:ManualMappingCuration 2022-01-24 EFO:1000213 Cystic Nephroma skos:exactMatch DOID:2673 adult cystic nephroma semapv:ManualMappingCuration 2023-12-04 EFO:1000214 Dedifferentiated Solitary Fibrous Tumor skos:exactMatch DOID:9002958 Solitary Fibrous Tumors semapv:ManualMappingCuration 2023-12-04 EFO:1000215 Desmoplastic Ameloblastoma skos:exactMatch DOID:9007904 Desmoplastic Ameloblastoma semapv:ManualMappingCuration 2023-12-04 EFO:1000216 Diffuse Melanocytosis skos:exactMatch DOID:6379 diffuse meningeal melanocytosis semapv:ManualMappingCuration 2023-12-04 EFO:1000217 Digestive System Adenoma skos:exactMatch DOID:4147 gastrointestinal adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1000218 Digestive System Carcinoma skos:exactMatch DOID:0050922 gastrointestinal carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000219 Digestive System Mixed Adenoneuroendocrine Carcinoma skos:exactMatch DOID:9004351 Digestive System Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000220 Disseminated Peritoneal Leiomyomatosis skos:exactMatch DOID:5728 diffuse peritoneal leiomyomatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000221 Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ skos:exactMatch DOID:8791 breast carcinoma in situ semapv:ManualMappingCuration 2023-12-04 EFO:1000223 Duodenal Adenocarcinoma skos:exactMatch DOID:10816 duodenum adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000224 Duodenal Gastrin-Producing Neuroendocrine Tumor skos:exactMatch DOID:7959 duodenal gastrinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000225 Duodenal Villous Adenoma skos:exactMatch DOID:0050927 duodenum adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1000226 Dysplasia in Ulcerative Colitis skos:exactMatch DOID:9004831 Colitis-Associated Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000227 Dysplasia of Larynx skos:exactMatch DOID:786 laryngeal disease semapv:ManualMappingCuration 2023-12-04 EFO:1000228 EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood skos:exactMatch DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood semapv:ManualMappingCuration 2023-12-04 EFO:1000229 Eccrine Porocarcinoma skos:exactMatch DOID:7566 eccrine porocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000230 Endolymphatic Sac Tumor skos:exactMatch DOID:4892 middle ear adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000231 Endometrial Clear Cell Adenocarcinoma skos:exactMatch DOID:5299 endometrial clear cell adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000232 Endometrial Cyst skos:exactMatch DOID:9007583 Cysts semapv:ManualMappingCuration 2023-12-04 EFO:1000233 Endometrial Endometrioid Adenocarcinoma skos:exactMatch DOID:2870 endometrial adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000234 Endometrial Hyperplasia without Atypia skos:exactMatch DOID:9002840 Endometrial Hyperplasia without Atypia semapv:ManualMappingCuration 2023-12-04 EFO:1000235 Endometrial Intraepithelial Neoplasia skos:exactMatch DOID:9005612 Endometrial Intraepithelial Neoplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000236 Endometrial Mucinous Adenocarcinoma skos:exactMatch DOID:3707 endometrial mucinous adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000237 Endometrial Polyp skos:exactMatch DOID:9042 polyp of corpus uteri semapv:ManualMappingCuration 2023-12-04 EFO:1000238 Endometrial Serous Adenocarcinoma skos:exactMatch DOID:5750 endometrial serous adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000239 Endometrial Small Cell Carcinoma skos:exactMatch DOID:7139 endometrial small cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000240 Endometrial Squamous Cell Carcinoma skos:exactMatch DOID:5533 endometrial squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000241 Endometrial Stromal Nodule skos:exactMatch DOID:1373 endometrial stromal nodule semapv:ManualMappingCuration 2023-12-04 EFO:1000242 Endometrial Undifferentiated Carcinoma skos:exactMatch DOID:2871 endometrial carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000243 Epidermal Inclusion Cyst skos:exactMatch DOID:9005841 Epidermal Cyst semapv:ManualMappingCuration 2023-12-04 EFO:1000244 Epithelioid Cell Uveal Melanoma skos:exactMatch DOID:7040 uveal epithelioid cell melanoma semapv:ManualMappingCuration 2022-01-24 EFO:1000245 Epithelioid Malignant Peripheral Nerve Sheath Tumor skos:exactMatch DOID:8353 epithelioid malignant peripheral nerve sheath tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000246 Ethmoid Sinus Adenoid Cystic Carcinoma skos:exactMatch DOID:2764 ethmoid sinus adenoid cystic carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000247 Extrahepatic Bile Duct Adenosquamous Carcinoma skos:exactMatch DOID:5624 adenosquamous bile duct carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000248 Extrahepatic Bile Duct Squamous Cell Carcinoma skos:exactMatch DOID:5537 squamous cell bile duct carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000249 Extramammary Paget Disease skos:exactMatch DOID:3450 cutaneous Paget's disease semapv:ManualMappingCuration 2023-12-04 EFO:1000250 Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor skos:exactMatch DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000251 Fallopian Tube Carcinoma skos:exactMatch DOID:1963 fallopian tube carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000252 Fallopian Tube Carcinosarcoma skos:exactMatch DOID:1970 fallopian tube carcinosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1000253 Fallopian Tube Serous Adenocarcinoma skos:exactMatch DOID:5598 fallopian tube serous adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000254 Fibroadenoma skos:exactMatch DOID:9006947 Fibroadenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000255 Fibroblastic Neoplasm skos:exactMatch DOID:9008446 Fibrous Tissue Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000256 Fibrolamellar Carcinoma skos:exactMatch DOID:5015 fibrolamellar carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000257 Fibrous Hamartoma of Infancy skos:exactMatch DOID:9007066 Fibrous Hamartoma of Infancy semapv:ManualMappingCuration 2023-12-04 EFO:1000258 Fibrous Meningioma skos:exactMatch DOID:7211 fibrous meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000259 Flat Urothelial Hyperplasia skos:exactMatch DOID:9002221 Hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000262 Gallbladder Adenocarcinoma skos:exactMatch DOID:3500 gallbladder adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000263 Gallbladder Adenoma skos:exactMatch DOID:0050893 gallbladder adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1000264 Gallbladder Adenosquamous Carcinoma skos:exactMatch DOID:5627 adenosquamous gallbladder carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000265 Gallbladder Biliary Intraepithelial Neoplasia skos:exactMatch DOID:0060071 pre-malignant neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000266 Gallbladder Small Cell Neuroendocrine Carcinoma skos:exactMatch DOID:7133 gallbladder small cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000267 Gallbladder Squamous Cell Carcinoma skos:exactMatch DOID:5535 gallbladder squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000269 Gastric Choriocarcinoma skos:exactMatch DOID:3594 choriocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000270 Gastric Diffuse Large B-Cell Lymphoma skos:exactMatch DOID:9007929 Gastric Diffuse Large B-Cell Lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000271 Gastric Hamartomatous Polyp skos:exactMatch DOID:9003987 Gastric Polyposis semapv:ManualMappingCuration 2023-12-04 EFO:1000272 Gastric Mantle Cell Lymphoma skos:exactMatch DOID:0050746 mantle cell lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000273 Gastric Metaplasia skos:exactMatch DOID:9000217 Stomach Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000274 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma skos:exactMatch DOID:9007252 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000275 Gastric Neuroendocrine Tumor G1 skos:exactMatch DOID:4715 gastric neuroendocrine neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000276 Gastric Papillary Adenocarcinoma skos:exactMatch DOID:5593 gastric papillary adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000277 Gastric Small Cell Neuroendocrine Carcinoma skos:exactMatch DOID:6552 gastric small cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000278 Gastric Squamous Cell Carcinoma skos:exactMatch DOID:5516 gastric squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000280 Gastrointestinal Hamartoma skos:exactMatch DOID:9007253 Hamartoma semapv:ManualMappingCuration 2023-12-04 EFO:1000281 Giant Cell Tumor of Soft Tissue skos:exactMatch DOID:9003853 Giant Cell Tumors semapv:ManualMappingCuration 2023-12-04 EFO:1000283 Grade III Prostatic Intraepithelial Neoplasia skos:exactMatch DOID:8634 prostate carcinoma in situ semapv:ManualMappingCuration 2022-01-24 EFO:1000284 Granular Cell Tumor skos:exactMatch DOID:2411 granular cell tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000285 Granular Cell Tumor of the Neurohypophysis skos:exactMatch DOID:5047 granular cell tumor of the sellar region semapv:ManualMappingCuration 2022-01-24 EFO:1000286 Granulocytic Sarcoma skos:exactMatch DOID:9000063 Primary Granulocytic Sarcoma semapv:ManualMappingCuration 2023-12-04 EFO:1000287 Growth Hormone-Producing Pituitary Gland Adenoma skos:exactMatch DOID:6255 growth hormone secreting pituitary adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1000288 Head and Neck Paraganglioma skos:exactMatch DOID:9004893 Head and Neck Paraganglioma semapv:ManualMappingCuration 2023-12-04 EFO:1000289 Hemangiopericytic Neoplasm skos:exactMatch DOID:3850 hemangiopericytic tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000291 Hepatic Granuloma skos:exactMatch DOID:9006916 Hepatic Granuloma semapv:ManualMappingCuration 2023-12-04 EFO:1000292 Hepatoblastoma skos:exactMatch DOID:687 hepatoblastoma semapv:ManualMappingCuration 2022-01-24 EFO:1000293 Hepatoid Adenocarcinoma skos:exactMatch DOID:0060534 hepatoid adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000294 HER2 Positive Breast Carcinoma skos:exactMatch DOID:0060079 Her2-receptor positive breast cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000295 Hidradenocarcinoma skos:exactMatch DOID:9006371 Hidradenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000296 High Grade Surface Osteosarcoma skos:exactMatch DOID:3374 peripheral osteosarcoma semapv:ManualMappingCuration 2023-12-04 EFO:1000297 Histiocytic and Dendritic Cell Neoplasm skos:exactMatch DOID:5621 histiocytic and dendritic cell cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000298 Hydatidiform Mole skos:exactMatch DOID:9005147 Hydatidiform Mole semapv:ManualMappingCuration 2023-12-04 EFO:1000300 Ileal Neuroendocrine Tumor G1 skos:exactMatch DOID:9003896 Polyps semapv:ManualMappingCuration 2023-12-04 EFO:1000300 Ileal Neuroendocrine Tumor G1 skos:exactMatch DOID:9004109 Intestinal Carcinoid Tumors semapv:ManualMappingCuration 2023-12-04 EFO:1000302 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma skos:exactMatch DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000303 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant skos:exactMatch DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant semapv:ManualMappingCuration 2022-01-24 EFO:1000304 Intestinal Type Adenocarcinoma skos:exactMatch DOID:9001857 Intestinal Type Adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000305 Intimal Sarcoma skos:exactMatch DOID:9007431 Intimal Sarcoma semapv:ManualMappingCuration 2023-12-04 EFO:1000306 Intraductal Breast Papilloma skos:exactMatch DOID:1626 breast duct papilloma semapv:ManualMappingCuration 2023-12-04 EFO:1000307 Invasive Breast Carcinoma skos:exactMatch DOID:9008344 Invasive Breast Carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000308 Jejunal Neuroendocrine Tumor G1 skos:exactMatch DOID:4434 small intestine neuroendocrine neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000309 Juvenile Myelomonocytic Leukemia skos:exactMatch DOID:0050458 juvenile myelomonocytic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:1000310 Juvenile Polyp skos:exactMatch DOID:0050787 juvenile polyposis syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1000311 Juvenile Xanthogranuloma skos:exactMatch DOID:4424 juvenile xanthogranuloma semapv:ManualMappingCuration 2022-01-24 EFO:1000312 Kidney Angiomyolipoma skos:exactMatch DOID:8411 kidney angiomyolipoma semapv:ManualMappingCuration 2023-12-04 EFO:1000313 Kidney Cyst skos:exactMatch DOID:2975 cystic kidney disease semapv:ManualMappingCuration 2023-12-04 EFO:1000314 Kidney Medullary Carcinoma skos:exactMatch DOID:0070475 SMARCB1-deficient renal medullary carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000314 Kidney Medullary Carcinoma skos:exactMatch DOID:4464 collecting duct carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000315 Kidney Oncocytoma skos:exactMatch DOID:6245 renal oncocytoma semapv:ManualMappingCuration 2023-12-04 EFO:1000316 Krukenberg Tumor skos:exactMatch DOID:9597 Krukenberg carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000317 Lacrimal Gland Adenoid Cystic Carcinoma skos:exactMatch DOID:4870 lacrimal gland adenoid cystic carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000318 Langerhans Cell Histiocytosis skos:exactMatch DOID:2571 Langerhans-cell histiocytosis semapv:ManualMappingCuration 2022-01-24 EFO:1000319 Laryngeal Adenoid Cystic Carcinoma skos:exactMatch DOID:4869 laryngeal adenoid cystic carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000320 Laryngeal Small Cell Carcinoma skos:exactMatch DOID:7144 laryngeal small cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000321 Leydig Cell Tumor skos:exactMatch DOID:2696 Leydig cell tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000324 Liver Inflammatory Myofibroblastic Tumor skos:exactMatch DOID:918 liver inflammatory pseudotumor semapv:ManualMappingCuration 2023-12-04 EFO:1000326 Lobular Breast Carcinoma In Situ skos:exactMatch DOID:3010 lobular neoplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000327 Low Grade Central Osteosarcoma skos:exactMatch DOID:7602 conventional osteosarcoma semapv:ManualMappingCuration 2023-12-04 EFO:1000328 Low Grade Fibromyxoid Sarcoma skos:exactMatch DOID:0080534 myxofibrosarcoma semapv:ManualMappingCuration 2023-12-04 EFO:1000330 Low Grade Vulvar Intraepithelial Neoplasia skos:exactMatch DOID:9006454 vulvar intraepithelial neoplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000332 Lung Giant Cell Carcinoma skos:exactMatch DOID:5583 lung giant cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000333 Lung Inflammatory Myofibroblastic Tumor skos:exactMatch DOID:0050905 inflammatory myofibroblastic tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000334 Lung Lymphangioleiomyomatosis skos:exactMatch DOID:3319 lymphangioleiomyomatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000335 Lung Papilloma skos:exactMatch DOID:2615 papilloma semapv:ManualMappingCuration 2023-12-04 EFO:1000336 Lung Sarcomatoid Carcinoma skos:exactMatch DOID:0080777 lung sarcomatoid carcinoma semapv:ManualMappingCuration 2023-03-17 EFO:1000337 Lung Sclerosing Hemangioma skos:exactMatch DOID:495 sclerosing hemangioma semapv:ManualMappingCuration 2022-01-24 EFO:1000337 Lung Sclerosing Hemangioma skos:exactMatch DOID:5766 pulmonary sclerosing hemangioma semapv:ManualMappingCuration 2022-01-24 EFO:1000338 Lung Signet Ring Cell Carcinoma skos:exactMatch DOID:0080305 signet ring lung adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000339 Lymphangiosarcoma skos:exactMatch DOID:2689 lymphangiosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1000340 Lymphoepithelioma-Like Lung Carcinoma skos:exactMatch DOID:4556 lung large cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000341 Lymphomatoid Papulosis skos:exactMatch DOID:9003867 Lymphomatoid Papulosis semapv:ManualMappingCuration 2023-12-04 EFO:1000342 Lymphoplasmacyte-Rich Meningioma skos:exactMatch DOID:4591 lymphoplasmacyte-rich meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000344 Major Salivary Gland Carcinoma skos:exactMatch DOID:0050904 salivary gland carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000346 Major Salivary Gland Mucoepidermoid Carcinoma skos:exactMatch DOID:0081293 salivary gland mucoepidermoid carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000347 Malignancy in Giant Cell Tumor of Bone skos:exactMatch DOID:4719 bone giant cell sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1000348 Malignant Adrenal Gland Pheochromocytoma skos:exactMatch DOID:0050892 adrenal gland pheochromocytoma semapv:ManualMappingCuration 2023-12-04 EFO:1000348 Malignant Adrenal Gland Pheochromocytoma skos:exactMatch DOID:0080347 malignant pheochromocytoma semapv:ManualMappingCuration 2022-01-24 EFO:1000349 Malignant Bladder Paraganglioma skos:exactMatch DOID:0050936 extra-adrenal pheochromocytoma semapv:ManualMappingCuration 2023-12-04 EFO:1000350 Malignant Bone Neoplasm skos:exactMatch DOID:184 bone cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000352 Malignant Germ Cell Tumor skos:exactMatch DOID:2994 germ cell cancer semapv:ManualMappingCuration 2023-12-04 EFO:1000353 Malignant Jugulotympanic Paraganglioma skos:exactMatch DOID:9002449 Glomus Jugulare Tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000354 Malignant Laryngeal Neoplasm skos:exactMatch DOID:2596 larynx cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000355 Malignant Mesothelioma skos:exactMatch DOID:1790 malignant mesothelioma semapv:ManualMappingCuration 2022-01-24 EFO:1000356 Malignant Mixed Neoplasm skos:exactMatch DOID:154 mixed cell type cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000356 Malignant Mixed Neoplasm skos:exactMatch DOID:9008713 Malignant Mixed Tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000357 Malignant Ovarian Brenner Tumor skos:exactMatch DOID:4217 malignant ovarian Brenner tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000358 Malignant Ovarian Mixed Epithelial Tumor skos:exactMatch DOID:6898 ovarian seromucinous carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000359 Malignant Pancreatic Neoplasm skos:exactMatch DOID:1793 pancreatic cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000360 Malignant Paraganglioma skos:exactMatch DOID:9008757 Metastatic Paraganglioma semapv:ManualMappingCuration 2023-12-04 EFO:1000361 Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation skos:exactMatch DOID:5940 malignant peripheral nerve sheath tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000362 Malignant Pleural Neoplasm skos:exactMatch DOID:5158 pleural cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000363 Malignant Urinary System Neoplasm skos:exactMatch DOID:3996 urinary system cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000364 Mast Cell Sarcoma skos:exactMatch DOID:355 mast-cell sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1000365 Maxillary Sinus Adenoid Cystic Carcinoma skos:exactMatch DOID:7198 maxillary sinus adenoid cystic carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000366 Mediastinal Malignant Germ Cell Tumor skos:exactMatch DOID:5559 mediastinal cancer semapv:ManualMappingCuration 2023-12-04 EFO:1000367 Mediastinal Neuroblastoma skos:exactMatch DOID:10660 mediastinum neuroblastoma semapv:ManualMappingCuration 2022-01-24 EFO:1000368 Medullomyoblastoma with Myogenic Differentiation skos:exactMatch DOID:3861 medullomyoblastoma semapv:ManualMappingCuration 2022-01-24 EFO:1000369 Melanocytoma of the Eyeball skos:exactMatch DOID:9004059 Eye Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000370 Meningeal Melanocytoma skos:exactMatch DOID:5900 meningeal melanocytoma semapv:ManualMappingCuration 2023-12-04 EFO:1000371 Meningioangiomatosis skos:exactMatch DOID:9002729 Meningioangiomatosis semapv:ManualMappingCuration 2023-12-04 EFO:1000372 Meningothelial Meningioma skos:exactMatch DOID:7212 meningothelial meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000373 Metanephric Adenoma skos:exactMatch DOID:6404 metanephric adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1000375 Metaplastic Meningioma skos:exactMatch DOID:3565 meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000376 Microcystic Meningioma skos:exactMatch DOID:4594 microcystic meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000377 Micropapillary Serous Carcinoma skos:exactMatch DOID:2632 papillary serous adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000378 Middle Ear Squamous Cell Carcinoma skos:exactMatch DOID:5526 middle ear squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000379 Minor Salivary Gland Adenocarcinoma skos:exactMatch DOID:0050904 salivary gland carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000380 Mixed Cell Uveal Melanoma skos:exactMatch DOID:6522 mixed cell uveal melanoma semapv:ManualMappingCuration 2022-01-24 EFO:1000381 Mixed Epithelial Stromal Tumor of the Kidney skos:exactMatch DOID:9002265 Kidney Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000382 Mixed Lobular and Ductal Breast Carcinoma skos:exactMatch DOID:3458 breast adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000383 Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma skos:exactMatch DOID:5395 functioning pituitary adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000384 Mixed Tumor of the Salivary Gland skos:exactMatch DOID:452 pleomorphic adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000385 Mixed Tumor of the Skin skos:exactMatch DOID:2079 eccrine mixed tumor of skin semapv:ManualMappingCuration 2022-01-24 EFO:1000386 Mucinous Gastric Adenocarcinoma skos:exactMatch DOID:3716 mucinous stomach adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000388 Myelodysplastic/Myeloproliferative Neoplasm skos:exactMatch DOID:4972 myelodysplastic/myeloproliferative neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000389 Myofibroma skos:exactMatch DOID:4386 myofibroma semapv:ManualMappingCuration 2022-01-24 EFO:1000390 Nabothian Cyst skos:exactMatch DOID:9007583 Cysts semapv:ManualMappingCuration 2023-12-04 EFO:1000391 Nasal Cavity Polyp skos:exactMatch DOID:9001472 Nasal Polyps semapv:ManualMappingCuration 2023-12-04 EFO:1000393 Neuroblastic Tumor skos:exactMatch DOID:9008058 Neuroblastic Tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000394 Neurothekeoma skos:exactMatch DOID:9000825 Neurothekeoma semapv:ManualMappingCuration 2023-12-04 EFO:1000395 Nevus of Ito skos:exactMatch DOID:3156 hypomelanosis of Ito semapv:ManualMappingCuration 2023-12-04 EFO:1000396 Nevus of Ota skos:exactMatch DOID:9005777 Nevus of Ota semapv:ManualMappingCuration 2023-12-04 EFO:1000397 Non-Cutaneous Melanoma skos:exactMatch DOID:1909 melanoma semapv:ManualMappingCuration 2023-12-04 EFO:1000399 Non-Functioning Adrenal Cortex Adenoma skos:exactMatch DOID:0050891 adrenal cortical adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000400 Non-Neoplastic Bile Duct Disorder skos:exactMatch DOID:4138 bile duct disease semapv:ManualMappingCuration 2023-12-04 EFO:1000401 Non-Seminomatous Lesion skos:exactMatch DOID:4086 testicular germ cell tumor non-seminomatous semapv:ManualMappingCuration 2023-12-04 EFO:1000402 Normal Breast-Like Subtype of Breast Carcinoma skos:exactMatch DOID:3458 breast adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000403 Ocular Melanoma skos:exactMatch DOID:1752 ocular melanoma semapv:ManualMappingCuration 2022-01-24 EFO:1000404 Ocular Melanoma with Extraocular Extension skos:exactMatch DOID:1752 ocular melanoma semapv:ManualMappingCuration 2023-12-04 EFO:1000405 Ocular Sebaceous Carcinoma skos:exactMatch DOID:295 eye carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000405 Ocular Sebaceous Carcinoma skos:exactMatch DOID:4840 sebaceous carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000406 Odontogenic Cyst skos:exactMatch DOID:9002504 Odontogenic Cysts semapv:ManualMappingCuration 2023-12-04 EFO:1000407 Olfactory Neuroblastoma skos:exactMatch DOID:369 olfactory neuroblastoma semapv:ManualMappingCuration 2022-01-24 EFO:1000408 Ossifying Fibromyxoid Tumor skos:exactMatch DOID:2685 ossifying fibromyxoid tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000409 Ossifying Renal Tumor of Infancy skos:exactMatch DOID:3116 kidney benign neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000410 Osteoblastoma skos:exactMatch DOID:0060098 osteoblastoma semapv:ManualMappingCuration 2023-12-04 EFO:1000411 Osteochondroma skos:exactMatch DOID:9005193 Osteochondroma semapv:ManualMappingCuration 2023-12-04 EFO:1000412 Ovarian Carcinosarcoma skos:exactMatch DOID:6170 ovarian carcinosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1000413 Ovarian Choriocarcinoma skos:exactMatch DOID:5550 choriocarcinoma of ovary semapv:ManualMappingCuration 2022-01-24 EFO:1000414 Ovarian Dysgerminoma skos:exactMatch DOID:5511 dysgerminoma of ovary semapv:ManualMappingCuration 2022-01-24 EFO:1000415 Ovarian Embryonal Carcinoma skos:exactMatch DOID:5681 ovarian embryonal carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000416 Ovarian Endometrioid Adenocarcinoma skos:exactMatch DOID:5828 endometrioid ovary carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000417 Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation skos:exactMatch DOID:5828 endometrioid ovary carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000418 Ovarian Endometriosis skos:exactMatch DOID:11432 endometriosis of ovary semapv:ManualMappingCuration 2022-01-24 EFO:1000419 Ovarian Germ Cell Tumor skos:exactMatch DOID:2156 ovarian germ cell cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000420 Ovarian Gonadoblastoma skos:exactMatch DOID:3578 ovarian gonadoblastoma semapv:ManualMappingCuration 2023-12-04 EFO:1000421 Ovarian Granulosa Cell Tumor skos:exactMatch DOID:9002365 Ovarian Granulosa Cell Tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000422 Ovarian Gynandroblastoma skos:exactMatch DOID:9008041 Ovarian Gynandroblastoma semapv:ManualMappingCuration 2023-12-04 EFO:1000423 Ovarian Leydig Cell Tumor skos:exactMatch DOID:2696 Leydig cell tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000424 Ovarian Microcystic Stromal Tumor skos:exactMatch DOID:0080369 ovarian sex-cord stromal tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000425 Ovarian Mixed Epithelial Tumor skos:exactMatch DOID:6211 mixed epithelial tumor of ovary semapv:ManualMappingCuration 2023-12-04 EFO:1000426 Ovarian Sclerosing Stromal Tumor skos:exactMatch DOID:0080369 ovarian sex-cord stromal tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000427 Ovarian Serous Adenocarcinofibroma skos:exactMatch DOID:5744 ovary serous adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000428 Ovarian Serous Adenofibroma skos:exactMatch DOID:5474 ovarian serous adenofibroma semapv:ManualMappingCuration 2022-01-24 EFO:1000429 Ovarian Sertoli-Leydig Cell Tumor skos:exactMatch DOID:2997 Sertoli-Leydig cell tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000430 Ovarian Sex Cord Tumor with Annular Tubules skos:exactMatch DOID:0080369 ovarian sex-cord stromal tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000431 Ovarian Small Cell Carcinoma skos:exactMatch DOID:6179 ovarian small cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000432 Ovarian Squamous Cell Carcinoma skos:exactMatch DOID:5531 ovarian squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000433 Ovarian Steroid Cell Tumor skos:exactMatch DOID:9002762 Ovarian Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000434 Ovarian Stromal Luteoma skos:exactMatch DOID:7880 luteoma semapv:ManualMappingCuration 2023-12-04 EFO:1000435 Ovarian Transitional Cell Carcinoma skos:exactMatch DOID:4000 ovary transitional cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000436 Ovarian Tumor of the Thecoma/Fibroma Group skos:exactMatch DOID:9002762 Ovarian Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000437 Ovarian Yolk Sac Tumor skos:exactMatch DOID:5350 ovarian endodermal sinus tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000438 Palmar Fibromatosis skos:exactMatch DOID:9003793 Dupuytren Contracture semapv:ManualMappingCuration 2023-12-04 EFO:1000439 Pancreatic Acinar Cell Carcinoma skos:exactMatch DOID:5742 pancreatic acinar cell adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000440 Pancreatic Gastrinoma skos:exactMatch DOID:5580 pancreatic gastrinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000442 Pancreatic Large Cell Neuroendocrine Carcinoma skos:exactMatch DOID:4905 pancreatic carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000443 Pancreatic Precancerous Condition skos:exactMatch DOID:0060071 pre-malignant neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000444 Pancreatic Small Cell Neuroendocrine Carcinoma skos:exactMatch DOID:1800 neuroendocrine carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000445 Pancreatic Vipoma skos:exactMatch DOID:5741 pancreatic vasoactive intestinal peptide producing tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000446 Pancreatoblastoma skos:exactMatch DOID:6823 pancreatoblastoma semapv:ManualMappingCuration 2023-12-04 EFO:1000447 Papillary Craniopharyngioma skos:exactMatch DOID:3847 papillary craniopharyngioma semapv:ManualMappingCuration 2023-12-04 EFO:1000448 Papillary Cystic Neoplasm skos:exactMatch DOID:9008105 Cystic, Mucinous, and Serous Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000449 Papillary Meningioma skos:exactMatch DOID:5058 rhabdoid meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000450 Papillary Transitional Cell Carcinoma skos:exactMatch DOID:4012 papillary transitional carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000451 Papillary Tumor of the Pineal Region skos:exactMatch DOID:0081251 papillary tumor of the pineal region semapv:ManualMappingCuration 2023-12-04 EFO:1000452 Parachordoma skos:exactMatch DOID:2647 parachordoma semapv:ManualMappingCuration 2022-01-24 EFO:1000453 Paraganglioma skos:exactMatch DOID:0050773 paraganglioma semapv:ManualMappingCuration 2022-01-24 EFO:1000454 Paranasal Sinus Adenoid Cystic Carcinoma skos:exactMatch DOID:0050619 paranasal sinus cancer semapv:ManualMappingCuration 2023-12-04 EFO:1000455 Paranasal Sinus Schneiderian Papilloma skos:exactMatch DOID:1350 paranasal sinus benign neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000456 Parathyroid Gland Carcinoma skos:exactMatch DOID:1540 parathyroid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000457 Parathyroid Hyperplasia skos:exactMatch DOID:9003102 Parathyroid Gland Hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000458 Parotid Gland Acinic Cell Carcinoma skos:exactMatch DOID:3025 acinar cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000459 Parotid Gland Adenoid Cystic Carcinoma skos:exactMatch DOID:0050931 parotid gland adenoid cystic carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000460 Parotid Gland Carcinoma skos:exactMatch DOID:9036 parotid gland cancer semapv:ManualMappingCuration 2023-12-04 EFO:1000461 Parotid Gland Carcinoma ex Pleomorphic Adenoma skos:exactMatch DOID:297 pleomorphic adenoma carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000462 Parotid Gland Pleomorphic Adenoma skos:exactMatch DOID:452 pleomorphic adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000463 Parotid Gland Squamous Cell Carcinoma skos:exactMatch DOID:9009187 Aerodigestive Tract Squamous Cell Carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000464 PEComa skos:exactMatch DOID:2643 perivascular epithelioid cell tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000465 Penile Carcinoma skos:exactMatch DOID:3449 penis carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000466 Penile Fibromatosis skos:exactMatch DOID:8616 Peyronie's disease semapv:ManualMappingCuration 2023-12-04 EFO:1000467 Peritoneal Mesothelioma skos:exactMatch DOID:1788 peritoneal mesothelioma semapv:ManualMappingCuration 2023-12-04 EFO:1000468 Peritoneal Multicystic Mesothelioma skos:exactMatch DOID:1788 peritoneal mesothelioma semapv:ManualMappingCuration 2023-12-04 EFO:1000469 Peritoneal Well Differentiated Papillary Mesothelioma skos:exactMatch DOID:1788 peritoneal mesothelioma semapv:ManualMappingCuration 2023-12-04 EFO:1000470 Peutz-Jeghers Polyp skos:exactMatch DOID:3852 Peutz-Jeghers syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1000471 Peutz-Jeghers Polyp of the Stomach skos:exactMatch DOID:3852 Peutz-Jeghers syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1000472 Pharyngeal Adenoid Cystic Carcinoma skos:exactMatch DOID:0060119 pharynx cancer semapv:ManualMappingCuration 2023-12-04 EFO:1000473 Phosphaturic Mesenchymal Tumor skos:exactMatch DOID:9000313 Phosphaturic Mesenchymal Tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000474 Pineal Parenchymal Tumor of Intermediate Differentiation skos:exactMatch DOID:5030 pineal parenchymal tumor of intermediate differentiation semapv:ManualMappingCuration 2022-01-24 EFO:1000475 Pineoblastoma skos:exactMatch DOID:1664 pineoblastoma semapv:ManualMappingCuration 2022-01-24 EFO:1000476 Pineocytoma skos:exactMatch DOID:0081248 pineocytoma semapv:ManualMappingCuration 2023-03-17 EFO:1000476 Pineocytoma skos:exactMatch DOID:9005957 Pinealoma semapv:ManualMappingCuration 2023-12-04 EFO:1000477 Pituicytoma skos:exactMatch DOID:0081280 pituicytoma semapv:ManualMappingCuration 2023-04-17 EFO:1000478 Pituitary Gland Adenoma skos:exactMatch DOID:3829 pituitary adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1000479 Placental Choriocarcinoma skos:exactMatch DOID:2024 placental choriocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000480 Placental Hemangioma skos:exactMatch DOID:277 chorioangioma semapv:ManualMappingCuration 2022-01-24 EFO:1000481 Plantar Fibromatosis skos:exactMatch DOID:8936 plantar fascial fibromatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000484 Pleural Epithelioid Mesothelioma skos:exactMatch DOID:4489 malignant epithelial mesothelioma semapv:ManualMappingCuration 2023-12-04 EFO:1000485 Pleural Mesothelioma skos:exactMatch DOID:5157 benign pleural mesothelioma semapv:ManualMappingCuration 2022-01-24 EFO:1000486 Pleural Sarcomatoid Mesothelioma skos:exactMatch DOID:7474 malignant pleural mesothelioma semapv:ManualMappingCuration 2023-12-04 EFO:1000487 Plexiform Ameloblastoma skos:exactMatch DOID:0050894 ameloblastoma semapv:ManualMappingCuration 2023-12-04 EFO:1000488 Polar Spongioblastoma skos:exactMatch DOID:7305 astroblastoma semapv:ManualMappingCuration 2023-12-04 EFO:1000491 Primary Effusion Lymphoma skos:exactMatch DOID:9000035 Primary Effusion Lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000492 Primary Intraosseous Squamous Cell Carcinoma skos:exactMatch DOID:9006134 Odontogenic Tumors semapv:ManualMappingCuration 2023-12-04 EFO:1000493 Primary Melanocytic Lesion of Meninges skos:exactMatch DOID:5900 meningeal melanocytoma semapv:ManualMappingCuration 2023-12-04 EFO:1000494 Primary Peritoneal Serous Adenocarcinoma skos:exactMatch DOID:4901 peritoneal serous adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000495 Primary Pulmonary Diffuse Large B-Cell Lymphoma skos:exactMatch DOID:0050745 diffuse large B-cell lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000496 Prolactin-Producing Pituitary Gland Adenoma skos:exactMatch DOID:5394 prolactinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000497 Prolactin-Producing Pituitary Gland Carcinoma skos:exactMatch DOID:5396 prolactin producing pituitary tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000498 Prostate Rhabdomyosarcoma skos:exactMatch DOID:3252 prostate rhabdomyosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1000499 Prostate Small Cell Carcinoma skos:exactMatch DOID:7141 prostate small cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000500 Psammomatous Meningioma skos:exactMatch DOID:7210 psammomatous meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000501 Pyloric Gland Adenoma skos:exactMatch DOID:9003987 Gastric Polyposis semapv:ManualMappingCuration 2023-12-04 EFO:1000502 Rectal Hyperplastic Polyp skos:exactMatch DOID:9001642 Intestinal Polyps semapv:ManualMappingCuration 2023-12-04 EFO:1000503 Rectal Traditional Serrated Adenoma skos:exactMatch DOID:0050915 rectal adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000504 Rectal Tubular Adenoma skos:exactMatch DOID:0050915 rectal adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000505 Rectal Tubulovillous Adenoma skos:exactMatch DOID:0050915 rectal adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000506 Rectal Villous Adenoma skos:exactMatch DOID:0050915 rectal adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000507 Renal Angiomyoadenomatous Tumor skos:exactMatch DOID:3116 kidney benign neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000508 Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions skos:exactMatch DOID:0081415 TFE3-rearranged renal cell carcinoma semapv:ManualMappingCuration 2024-04-21 EFO:1000509 Retinal Neoplasm skos:exactMatch DOID:9006483 Retinal Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000510 Retroperitoneal Inflammatory Myofibroblastic Tumor skos:exactMatch DOID:0050905 inflammatory myofibroblastic tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000511 Rhabdoid Meningioma skos:exactMatch DOID:5058 rhabdoid meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000512 Rhabdoid Tumor of the Kidney skos:exactMatch DOID:3674 kidney rhabdoid cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000513 Salivary Gland Acinic Cell Carcinoma skos:exactMatch DOID:3025 acinar cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000514 Salivary Gland Adenosquamous Carcinoma skos:exactMatch DOID:0050904 salivary gland carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000516 Salivary Gland Carcinoma ex Pleomorphic Adenoma skos:exactMatch DOID:0050904 salivary gland carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000516 Salivary Gland Carcinoma ex Pleomorphic Adenoma skos:exactMatch DOID:297 pleomorphic adenoma carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000517 Salivary Gland Large Cell Carcinoma skos:exactMatch DOID:0050904 salivary gland carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000519 Salivary Gland Small Cell Carcinoma skos:exactMatch DOID:0050685 small cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000520 Sarcomatoid Carcinoma skos:exactMatch DOID:4015 sarcomatoid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000521 Sarcomatoid Mesothelioma skos:exactMatch DOID:4488 sarcomatoid mesothelioma semapv:ManualMappingCuration 2022-01-24 EFO:1000522 Secretory Meningioma skos:exactMatch DOID:4588 secretory meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000523 Sex Hormone-Producing Adrenal Cortex Adenoma skos:exactMatch DOID:0050891 adrenal cortical adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000524 Signet Ring Cell Gastric Adenocarcinoma skos:exactMatch DOID:8025 gastric signet ring cell adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000525 Simple Endometrial Hyperplasia skos:exactMatch DOID:0080365 endometrial hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000526 Simple Endometrial Hyperplasia with Atypia skos:exactMatch DOID:0080365 endometrial hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000527 Sinonasal Undifferentiated Carcinoma skos:exactMatch DOID:0080799 sinonasal undifferentiated carcinoma semapv:ManualMappingCuration 2023-03-17 EFO:1000529 Skin Basosquamous Cell Carcinoma skos:exactMatch DOID:5063 basosquamous carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000530 Skin Cavernous Hemangioma skos:exactMatch DOID:483 cavernous hemangioma semapv:ManualMappingCuration 2023-12-04 EFO:1000531 Skin Sarcoma skos:exactMatch DOID:2687 skin sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1000532 small intestinal adenocarcinoma skos:exactMatch DOID:4906 small intestine adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000533 Small Intestinal Burkitt Lymphoma skos:exactMatch DOID:8584 Burkitt lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000534 Small Intestinal Diffuse Large B-Cell Lymphoma skos:exactMatch DOID:0050745 diffuse large B-cell lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000535 Small Intestinal Enteropathy-Associated T-Cell Lymphoma skos:exactMatch DOID:9003745 Enteropathy-Associated T-Cell Lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000536 Small Intestinal Intraepithelial Neoplasia skos:exactMatch DOID:0060071 pre-malignant neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000537 Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma skos:exactMatch DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue semapv:ManualMappingCuration 2023-12-04 EFO:1000538 Small Intestinal Tubular Adenoma skos:exactMatch DOID:7505 small intestine benign neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000539 Small Intestinal Tubulovillous Adenoma skos:exactMatch DOID:7505 small intestine benign neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000540 Soft Tissue Chondroma skos:exactMatch DOID:3814 soft tissue chondroma semapv:ManualMappingCuration 2022-01-24 EFO:1000541 Soft Tissue Neoplasm skos:exactMatch DOID:9007429 Soft Tissue Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000542 Solid Pseudopapillary Neoplasm of the Pancreas skos:exactMatch DOID:9004301 Solid Pseudopapillary Neoplasm of the Pancreas semapv:ManualMappingCuration 2023-12-04 EFO:1000543 Spinal Chordoma skos:exactMatch DOID:4153 spinal chordoma semapv:ManualMappingCuration 2022-01-24 EFO:1000544 Spinal Cord Astrocytoma skos:exactMatch DOID:4863 spinal cord astrocytoma semapv:ManualMappingCuration 2022-01-24 EFO:1000545 Spinal Cord Primitive Neuroectodermal Tumor skos:exactMatch DOID:6872 spinal cord primitive neuroectodermal neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000546 Spindle Cell Melanoma skos:exactMatch DOID:3162 malignant spindle cell melanoma semapv:ManualMappingCuration 2022-01-24 EFO:1000547 Splenic Diffuse Large B-Cell Lymphoma skos:exactMatch DOID:0050745 diffuse large B-cell lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000548 Splenic Hodgkin Lymphoma skos:exactMatch DOID:8567 Hodgkin's lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000549 Splenic Mantle Cell Lymphoma skos:exactMatch DOID:0050746 mantle cell lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000550 Splenic Marginal Zone Lymphoma skos:exactMatch DOID:0050750 splenic marginal zone lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:1000551 Stromal Predominant Kidney Wilms Tumor skos:exactMatch DOID:5191 stromal predominant kidney Wilms' tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000552 Subcutaneous Panniculitis-Like T-Cell Lymphoma skos:exactMatch DOID:9008980 Subcutaneous Panniculitis-like T-Cell Lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000553 Subependymoma skos:exactMatch DOID:4843 subependymal glioma semapv:ManualMappingCuration 2022-01-24 EFO:1000554 Submandibular Gland Adenocarcinoma skos:exactMatch DOID:9173 submandibular gland cancer semapv:ManualMappingCuration 2023-12-04 EFO:1000555 Submandibular Gland Adenoid Cystic Carcinoma skos:exactMatch DOID:9173 submandibular gland cancer semapv:ManualMappingCuration 2023-12-04 EFO:1000556 Superficial Fibromatosis skos:exactMatch DOID:0050871 fibroma semapv:ManualMappingCuration 2023-12-04 EFO:1000557 Synovial Chondromatosis skos:exactMatch DOID:9001695 Synovial Chondromatosis semapv:ManualMappingCuration 2023-12-04 EFO:1000558 Syringocystadenoma Papilliferum skos:exactMatch DOID:5445 syringocystadenoma papilliferum semapv:ManualMappingCuration 2022-01-24 EFO:1000559 Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease skos:exactMatch DOID:4797 SM-AHNMD semapv:ManualMappingCuration 2022-01-24 EFO:1000560 T-Cell Prolymphocytic Leukemia skos:exactMatch DOID:0081042 T-cell prolymphocytic leukemia semapv:ManualMappingCuration 2023-03-17 EFO:1000562 Tenosynovial Giant Cell Tumor skos:exactMatch DOID:314 tenosynovial giant cell tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000563 Teratoma with Malignant Transformation skos:exactMatch DOID:0081246 teratoma with somatic-type malignancy semapv:ManualMappingCuration 2023-06-18 EFO:1000563 Teratoma with Malignant Transformation skos:exactMatch DOID:5563 malignant teratoma semapv:ManualMappingCuration 2023-12-04 EFO:1000564 Testicular Choriocarcinoma skos:exactMatch DOID:5551 choriocarcinoma of the testis semapv:ManualMappingCuration 2022-01-24 EFO:1000565 Testicular Embryonal Carcinoma skos:exactMatch DOID:5680 embryonal testis carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000566 Testicular Germ Cell Tumor skos:exactMatch DOID:5557 testicular germ cell cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000566 Testicular Germ Cell Tumor skos:exactMatch DOID:9003654 Testicular Germ Cell Tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000567 Testicular Granulosa Cell Tumor skos:exactMatch DOID:5331 testicular granulosa cell tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000568 Testicular Large Cell Calcifying Sertoli Cell Tumor skos:exactMatch DOID:3577 Sertoli cell tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000569 Testicular Leydig Cell Tumor skos:exactMatch DOID:4756 testicular Leydig cell tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000570 Testicular Non-Seminomatous Germ Cell Tumor skos:exactMatch DOID:4086 testicular germ cell tumor non-seminomatous semapv:ManualMappingCuration 2022-01-24 EFO:1000571 Testicular Sclerosing Sertoli Cell Tumor skos:exactMatch DOID:3577 Sertoli cell tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000572 Testicular Sertoli Cell Tumor skos:exactMatch DOID:3577 Sertoli cell tumor semapv:ManualMappingCuration 2023-12-04 EFO:1000573 Testicular Teratoma skos:exactMatch DOID:9005592 Testicular Teratoma semapv:ManualMappingCuration 2023-12-04 EFO:1000574 Testicular Yolk Sac Tumor skos:exactMatch DOID:5344 testicular yolk sac tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000575 Therapy-Related Myeloid Neoplasm skos:exactMatch DOID:9001012 Therapy-Related Myeloid Neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000576 Thymic Carcinoma skos:exactMatch DOID:3284 thymic carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000576 Thymic Carcinoma skos:exactMatch DOID:4554 type C thymoma semapv:ManualMappingCuration 2022-01-24 EFO:1000577 Thymic Sarcomatoid Carcinoma skos:exactMatch DOID:8138 thymus sarcomatoid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000578 Thymic Small Cell Carcinoma skos:exactMatch DOID:7142 thymus small cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000579 Thymic Squamous Cell Carcinoma skos:exactMatch DOID:5530 thymus squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000580 Thymic Undifferentiated Carcinoma skos:exactMatch DOID:3284 thymic carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000581 Thymoma skos:exactMatch DOID:3275 thymoma semapv:ManualMappingCuration 2022-01-24 EFO:1000582 Thymoma Type AB skos:exactMatch DOID:3280 mixed type thymoma semapv:ManualMappingCuration 2022-01-24 EFO:1000583 Thymoma Type B3 skos:exactMatch DOID:7926 epithelial malignant thymoma semapv:ManualMappingCuration 2022-01-24 EFO:1000584 Thymoma Type B1 skos:exactMatch DOID:6917 predominantly cortical thymoma semapv:ManualMappingCuration 2022-01-24 EFO:1000585 Thyroglossal Duct Cyst skos:exactMatch DOID:9007559 Thyroglossal Cyst semapv:ManualMappingCuration 2023-12-04 EFO:1000587 Thyroid Gland Diffuse Large B-Cell Lymphoma skos:exactMatch DOID:0050745 diffuse large B-cell lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000588 Thyroid Gland Hyalinizing Trabecular Tumor skos:exactMatch DOID:6203 thyroid hyalinizing trabecular adenoma semapv:ManualMappingCuration 2023-12-04 EFO:1000589 Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma skos:exactMatch DOID:0081459 thyroid gland mixed medullary and follicular cell-derived carcinoma semapv:ManualMappingCuration 2024-07-29 EFO:1000589 Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma skos:exactMatch DOID:3963 thyroid gland carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000590 Thyroid Gland Mucoepidermoid Carcinoma skos:exactMatch DOID:4687 thyroid gland mucoepidermoid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000591 Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma skos:exactMatch DOID:0050909 extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue semapv:ManualMappingCuration 2023-12-04 EFO:1000592 Thyroid Gland Oncocytic Follicular Carcinoma skos:exactMatch DOID:8161 oncocytic carcinoma of the thyroid semapv:ManualMappingCuration 2023-12-04 EFO:1000593 Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation skos:exactMatch DOID:0050923 spindle epithelial tumor with thymus-like differentiation tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000593 Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation skos:exactMatch DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements semapv:ManualMappingCuration 2024-10-20 EFO:1000594 Thyroid Gland Squamous Cell Carcinoma skos:exactMatch DOID:3963 thyroid gland carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000595 Thyroid Gland Undifferentiated (Anaplastic) Carcinoma skos:exactMatch DOID:0080522 anaplastic thyroid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000596 Tibial Adamantinoma skos:exactMatch DOID:6322 tibial adamantinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000597 Tonsillar Squamous Cell Carcinoma skos:exactMatch DOID:0050920 tonsil squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 EFO:1000597 Tonsillar Squamous Cell Carcinoma skos:exactMatch DOID:1749 squamous cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000598 Tracheal Adenoid Cystic Carcinoma skos:exactMatch DOID:4875 trachea adenoid cystic carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000599 Tracheal Carcinoma skos:exactMatch DOID:4876 trachea carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000600 Tracheal Squamous Cell Carcinoma skos:exactMatch DOID:12003 trachea squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000601 Transitional Cell Carcinoma skos:exactMatch DOID:2671 transitional cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000602 Transitional Meningioma skos:exactMatch DOID:7213 transitional meningioma semapv:ManualMappingCuration 2023-12-04 EFO:1000603 Unclassified Renal Cell Carcinoma skos:exactMatch DOID:4450 renal cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000605 Undifferentiated Ovarian Carcinoma skos:exactMatch DOID:4001 ovarian carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000606 Undifferentiated Pancreatic Carcinoma skos:exactMatch DOID:3498 pancreatic ductal adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000607 Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells skos:exactMatch DOID:7718 osteoclast-like giant cell neoplasm of the pancreas semapv:ManualMappingCuration 2022-01-24 EFO:1000608 Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant skos:exactMatch DOID:6192 malignant inflammatory fibrous histiocytoma semapv:ManualMappingCuration 2022-01-24 EFO:1000609 Ureter Carcinoma skos:exactMatch DOID:4939 ureter carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000610 Ureter Small Cell Carcinoma skos:exactMatch DOID:6886 ureter small cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000611 Urothelial Dysplasia skos:exactMatch DOID:5433 urinary tract papillary transitional cell benign neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1000612 Usual Ductal Breast Hyperplasia skos:exactMatch DOID:9004693 ductal breast hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000613 Uterine Carcinosarcoma skos:exactMatch DOID:6171 uterine carcinosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1000614 Uterine Corpus Lipoleiomyoma skos:exactMatch DOID:13957 uterine corpus lipoleiomyoma semapv:ManualMappingCuration 2023-12-04 EFO:1000616 Uveal Melanoma skos:exactMatch DOID:6039 uveal melanoma semapv:ManualMappingCuration 2022-01-24 EFO:1000617 Vaginal Adenoid Cystic Carcinoma skos:exactMatch DOID:0050918 vaginal carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000618 Vaginal Carcinosarcoma skos:exactMatch DOID:136 vaginal carcinosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1000619 Vaginal Melanoma skos:exactMatch DOID:9006069 vaginal melanoma semapv:ManualMappingCuration 2023-12-04 EFO:1000620 Vaginal Squamous Cell Carcinoma skos:exactMatch DOID:0050918 vaginal carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1000621 Vagus Nerve Paraganglioma skos:exactMatch DOID:0050773 paraganglioma semapv:ManualMappingCuration 2023-12-04 EFO:1000622 VIP-Producing Neuroendocrine Tumor skos:exactMatch DOID:5574 vipoma semapv:ManualMappingCuration 2023-12-04 EFO:1000623 Vulvar Lichen Sclerosus skos:exactMatch DOID:9000555 Vulvar Lichen Sclerosus semapv:ManualMappingCuration 2023-12-04 EFO:1000624 Vulvar Squamous Cell Carcinoma skos:exactMatch DOID:2101 vulva squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000625 Warthin Tumor skos:exactMatch DOID:9001884 Adenolymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1000627 thyroid disease skos:exactMatch DOID:50 thyroid gland disease semapv:ManualMappingCuration 2022-01-24 EFO:1000630 marginal zone B-cell lymphoma skos:exactMatch DOID:0050748 marginal zone lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:1000631 palsy skos:exactMatch DOID:9005246 Paralysis semapv:ManualMappingCuration 2023-12-04 EFO:1000632 cerebral palsy skos:exactMatch DOID:1969 cerebral palsy semapv:ManualMappingCuration 2022-01-24 EFO:1000633 adenomatous colon polyp skos:exactMatch DOID:0050424 familial adenomatous polyposis semapv:ManualMappingCuration 2023-12-04 EFO:1000634 hamartoma skos:exactMatch DOID:9007253 Hamartoma semapv:ManualMappingCuration 2023-12-04 EFO:1000635 hemangioma skos:exactMatch DOID:255 hemangioma semapv:ManualMappingCuration 2022-01-24 EFO:1000636 inflammatory skin disease skos:exactMatch DOID:2723 dermatitis semapv:ManualMappingCuration 2023-12-04 EFO:1000637 acute respiratory distress syndrome skos:exactMatch DOID:11394 adult respiratory distress syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1000638 Isaacs syndrome skos:exactMatch DOID:963 episodic ataxia semapv:ManualMappingCuration 2022-01-24 EFO:1000639 acquired metabolic disease skos:exactMatch DOID:0060158 acquired metabolic disease semapv:ManualMappingCuration 2022-01-24 EFO:1000640 basal ganglia cerebrovascular disease skos:exactMatch DOID:10991 basal ganglia cerebrovascular disease semapv:ManualMappingCuration 2022-01-24 EFO:1000641 congenital nonspherocytic hemolytic anemia skos:exactMatch DOID:2861 congenital nonspherocytic hemolytic anemia semapv:ManualMappingCuration 2022-01-24 EFO:1000642 hemochromatosis skos:exactMatch DOID:2352 hemochromatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000643 infantile epileptic encephalopathy skos:exactMatch DOID:0050709 early infantile epileptic encephalopathy semapv:ManualMappingCuration 2023-12-04 EFO:1000644 newborn respiratory distress syndrome skos:exactMatch DOID:12716 newborn respiratory distress syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000645 orthostatic intolerance skos:exactMatch DOID:0111154 postural orthostatic tachycardia syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000645 orthostatic intolerance skos:exactMatch DOID:9004453 Orthostatic Intolerance semapv:ManualMappingCuration 2023-12-04 EFO:1000646 papillary carcinoma skos:exactMatch DOID:3113 papillary carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000647 renal tubular transport disease skos:exactMatch DOID:447 renal tubular transport disease semapv:ManualMappingCuration 2022-01-24 EFO:1000648 developmental dysplasia of the hip skos:exactMatch DOID:0060930 developmental dysplasia of the hip semapv:ManualMappingCuration 2024-04-21 EFO:1000648 developmental dysplasia of the hip skos:exactMatch DOID:9005560 Congenital Hip Dislocation semapv:ManualMappingCuration 2023-12-04 EFO:1000649 estrogen-receptor positive breast cancer skos:exactMatch DOID:0060075 estrogen-receptor positive breast cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000650 estrogen-receptor negative breast cancer skos:exactMatch DOID:0060076 estrogen-receptor negative breast cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000652 acute pancreatitis skos:exactMatch DOID:2913 acute pancreatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000653 sarcopenia skos:exactMatch DOID:9008824 Sarcopenia semapv:ManualMappingCuration 2023-12-04 EFO:1000654 childhood cancer skos:exactMatch DOID:162 cancer semapv:ManualMappingCuration 2023-12-04 EFO:1000656 sporadic Creutzfeld Jacob disease skos:exactMatch DOID:9000794 Sporadic Creutzfeldt-Jakob Disease semapv:ManualMappingCuration 2023-12-04 EFO:1000657 rectum cancer skos:exactMatch DOID:1993 rectum cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000660 acanthosis nigricans skos:exactMatch DOID:3138 acanthosis nigricans semapv:ManualMappingCuration 2022-01-24 EFO:1000661 Achenbach syndrome skos:exactMatch DOID:6687 Achenbach syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000662 acneiform dermatitis skos:exactMatch DOID:4399 acneiform dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000663 acquired keratosis skos:exactMatch DOID:13072 acquired hyperkeratosis semapv:ManualMappingCuration 2022-01-24 EFO:1000664 acrodermatitis skos:exactMatch DOID:2722 acrodermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000665 acrodermatitis chronica atrophicans skos:exactMatch DOID:0060344 acrodermatitis chronica atrophicans semapv:ManualMappingCuration 2022-01-24 EFO:1000666 acrokeratosis verruciformis skos:exactMatch DOID:0050606 acrokeratosis verruciformis semapv:ManualMappingCuration 2022-01-24 EFO:1000667 adiposis dolorosa skos:exactMatch DOID:3928 adiposis dolorosa semapv:ManualMappingCuration 2022-01-24 EFO:1000668 allergic contact dermatitis skos:exactMatch DOID:3042 allergic contact dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000669 allergic urticaria skos:exactMatch DOID:10612 allergic urticaria semapv:ManualMappingCuration 2022-01-24 EFO:1000670 anhidrosis skos:exactMatch DOID:11156 anhidrosis semapv:ManualMappingCuration 2022-01-24 EFO:1000671 bacterial exanthem skos:exactMatch DOID:0050487 bacterial exanthem semapv:ManualMappingCuration 2022-01-24 EFO:1000674 carbuncle skos:exactMatch DOID:2176 carbuncle semapv:ManualMappingCuration 2022-01-24 EFO:1000675 cholesteatoma skos:exactMatch DOID:869 cholesteatoma semapv:ManualMappingCuration 2022-01-24 EFO:1000676 cholesteatoma of attic skos:exactMatch DOID:10963 cholesteatoma of attic semapv:ManualMappingCuration 2022-01-24 EFO:1000677 cholesteatoma of external ear skos:exactMatch DOID:9462 cholesteatoma of external ear semapv:ManualMappingCuration 2022-01-24 EFO:1000678 cholesteatoma of middle ear skos:exactMatch DOID:10964 cholesteatoma of middle ear semapv:ManualMappingCuration 2022-01-24 EFO:1000679 cholinergic urticaria skos:exactMatch DOID:14443 cholinergic urticaria semapv:ManualMappingCuration 2022-01-24 EFO:1000680 mucous membrane pemphigoid skos:exactMatch DOID:11656 cicatricial pemphigoid semapv:ManualMappingCuration 2022-01-24 EFO:1000681 congenital generalized lipodystrophy skos:exactMatch DOID:0050585 congenital generalized lipodystrophy semapv:ManualMappingCuration 2022-01-24 EFO:1000682 conjunctival pigmentation skos:exactMatch DOID:12304 conjunctival pigmentation semapv:ManualMappingCuration 2022-01-24 EFO:1000683 cutaneous diphtheria skos:exactMatch DOID:12275 cutaneous diphtheria semapv:ManualMappingCuration 2022-01-24 EFO:1000684 dermatitis herpetiformis skos:exactMatch DOID:8505 dermatitis herpetiformis semapv:ManualMappingCuration 2022-01-24 EFO:1000685 dermatographia skos:exactMatch DOID:743 dermatographia semapv:ManualMappingCuration 2022-01-24 EFO:1000686 dermatosis papulosa nigra skos:exactMatch DOID:4400 dermatosis papulosa nigra semapv:ManualMappingCuration 2022-01-24 EFO:1000687 diffuse lipomatosis skos:exactMatch DOID:3923 diffuse lipomatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000688 dyshidrosis skos:exactMatch DOID:9230 pompholyx semapv:ManualMappingCuration 2022-01-24 EFO:1000689 ecthyma skos:exactMatch DOID:11907 ecthyma semapv:ManualMappingCuration 2022-01-24 EFO:1000690 epidermolysis bullosa skos:exactMatch DOID:2730 epidermolysis bullosa semapv:ManualMappingCuration 2022-01-24 EFO:1000691 epidermolysis bullosa acquisita skos:exactMatch DOID:4313 epidermolysis bullosa acquisita semapv:ManualMappingCuration 2022-01-24 EFO:1000692 epidermolysis bullosa dystrophica skos:exactMatch DOID:4959 epidermolysis bullosa dystrophica semapv:ManualMappingCuration 2022-01-24 EFO:1000693 erythema infectiosum skos:exactMatch DOID:8743 erythema infectiosum semapv:ManualMappingCuration 2022-01-24 EFO:1000694 erythema multiforme skos:exactMatch DOID:0050185 erythema multiforme semapv:ManualMappingCuration 2022-01-24 EFO:1000695 erythematosquamous dermatosis skos:exactMatch DOID:9097 erythematosquamous dermatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000696 erythrasma skos:exactMatch DOID:4131 erythrasma semapv:ManualMappingCuration 2022-01-24 EFO:1000697 exanthem skos:exactMatch DOID:0050486 exanthem semapv:ManualMappingCuration 2022-01-24 EFO:1000698 facial dermatosis skos:exactMatch DOID:3134 facial dermatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000699 fibroepithelial polyp of the anus skos:exactMatch DOID:8170 fibroepithelial polyp of the anus semapv:ManualMappingCuration 2022-01-24 EFO:1000700 fibroepithelial polyp of urethra skos:exactMatch DOID:8108 fibroepithelial polyp of urethra semapv:ManualMappingCuration 2022-01-24 EFO:1000701 follicular mucinosis skos:exactMatch DOID:9905 follicular mucinosis semapv:ManualMappingCuration 2022-01-24 EFO:1000702 folliculitis skos:exactMatch DOID:4409 folliculitis semapv:ManualMappingCuration 2022-01-24 EFO:1000703 fox fordyce disease skos:exactMatch DOID:1381 Fox-Fordyce disease semapv:ManualMappingCuration 2022-01-24 EFO:1000704 granuloma annulare skos:exactMatch DOID:3777 granuloma annulare semapv:ManualMappingCuration 2022-01-24 EFO:1000705 granulomatous dermatitis skos:exactMatch DOID:4397 granulomatous dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000706 hand dermatosis skos:exactMatch DOID:3158 hand dermatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000707 hemangioma of subcutaneous tissue skos:exactMatch DOID:13081 hemangioma of subcutaneous tissue semapv:ManualMappingCuration 2022-01-24 EFO:1000708 hereditary papulotranslucent acrokeratoderma skos:exactMatch DOID:0060360 hereditary papulotranslucent acrokeratoderma semapv:ManualMappingCuration 2022-01-24 EFO:1000709 pemphigoid gestationis skos:exactMatch DOID:0040098 pemphigus gestationis semapv:ManualMappingCuration 2022-01-24 EFO:1000709 pemphigoid gestationis skos:exactMatch DOID:14482 pemphigoid gestationis semapv:ManualMappingCuration 2022-01-24 EFO:1000710 hidradenitis suppurativa skos:exactMatch DOID:2280 hidradenitis suppurativa semapv:ManualMappingCuration 2022-01-24 EFO:1000710 hidradenitis suppurativa skos:exactMatch DOID:2282 hidradenitis semapv:ManualMappingCuration 2022-01-24 EFO:1000711 hyperpigmentation of eyelid skos:exactMatch DOID:10122 hyperpigmentation of eyelid semapv:ManualMappingCuration 2022-01-24 EFO:1000712 hypohidrosis skos:exactMatch DOID:11155 hypohidrosis semapv:ManualMappingCuration 2022-01-24 EFO:1000713 hypopigmentation of eyelid skos:exactMatch DOID:11668 hypopigmentation of eyelid semapv:ManualMappingCuration 2022-01-24 EFO:1000714 impetigo skos:exactMatch DOID:8504 impetigo semapv:ManualMappingCuration 2022-01-24 EFO:1000715 impetigo herpetiformis skos:exactMatch DOID:8503 impetigo herpetiformis semapv:ManualMappingCuration 2022-01-24 EFO:1000717 inverted follicular keratosis skos:exactMatch DOID:6945 inverted follicular keratosis semapv:ManualMappingCuration 2022-01-24 EFO:1000718 irritant dermatitis skos:exactMatch DOID:2772 irritant dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000719 juvenile dermatitis herpetiformis skos:exactMatch DOID:8507 juvenile dermatitis herpetiformis semapv:ManualMappingCuration 2022-01-24 EFO:1000720 keratosis skos:exactMatch DOID:161 keratosis semapv:ManualMappingCuration 2022-01-24 EFO:1000721 kernicterus due to isoimmunization skos:exactMatch DOID:12043 kernicterus due to isoimmunization semapv:ManualMappingCuration 2022-01-24 EFO:1000722 Kimura disease skos:exactMatch DOID:7365 Kimura disease semapv:ManualMappingCuration 2022-01-24 EFO:1000723 leg dermatosis skos:exactMatch DOID:3142 leg dermatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000724 lichen disease skos:exactMatch DOID:8574 lichen disease semapv:ManualMappingCuration 2022-01-24 EFO:1000725 lichen nitidus skos:exactMatch DOID:8573 lichen nitidus semapv:ManualMappingCuration 2022-01-24 EFO:1000726 lichen planus skos:exactMatch DOID:9201 lichen planus semapv:ManualMappingCuration 2022-01-24 EFO:1000727 lipodystrophy skos:exactMatch DOID:811 lipodystrophy semapv:ManualMappingCuration 2022-01-24 EFO:1000728 lipomatosis skos:exactMatch DOID:3153 lipomatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000729 loiasis skos:exactMatch DOID:13523 loiasis semapv:ManualMappingCuration 2022-01-24 EFO:1000730 Ludwig's angina skos:exactMatch DOID:4558 Ludwig's angina semapv:ManualMappingCuration 2022-01-24 EFO:1000731 maxillary sinus cholesteatoma skos:exactMatch DOID:867 maxillary sinus cholesteatoma semapv:ManualMappingCuration 2022-01-24 EFO:1000732 mediastinal lipomatosis skos:exactMatch DOID:3926 mediastinal lipomatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000733 melanoacanthoma skos:exactMatch DOID:11684 melanoacanthoma semapv:ManualMappingCuration 2022-01-24 EFO:1000734 miliaria skos:exactMatch DOID:1382 miliaria semapv:ManualMappingCuration 2022-01-24 EFO:1000735 miliaria rubra skos:exactMatch DOID:11153 miliaria rubra semapv:ManualMappingCuration 2022-01-24 EFO:1000736 mongolian spot skos:exactMatch DOID:4702 mongolian spot semapv:ManualMappingCuration 2022-01-24 EFO:1000737 multiple symmetric lipomatosis skos:exactMatch DOID:14116 multiple symmetric lipomatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000738 necrobiosis lipoidica skos:exactMatch DOID:3486 necrobiosis lipoidica semapv:ManualMappingCuration 2022-01-24 EFO:1000739 neonatal jaundice skos:exactMatch DOID:2383 neonatal jaundice semapv:ManualMappingCuration 2022-01-24 EFO:1000740 neurodermatitis skos:exactMatch DOID:3309 neurodermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000741 neurotic excoriation skos:exactMatch DOID:9165 neurotic excoriation semapv:ManualMappingCuration 2022-01-24 EFO:1000742 nodular nonsuppurative panniculitis skos:exactMatch DOID:1525 nodular nonsuppurative panniculitis semapv:ManualMappingCuration 2022-01-24 EFO:1000744 occupational dermatitis skos:exactMatch DOID:4404 occupational dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000745 palmoplantar keratosis skos:exactMatch DOID:3390 palmoplantar keratosis semapv:ManualMappingCuration 2022-01-24 EFO:1000746 panniculitis skos:exactMatch DOID:1526 panniculitis semapv:ManualMappingCuration 2022-01-24 EFO:1000747 parapsoriasis skos:exactMatch DOID:9088 parapsoriasis semapv:ManualMappingCuration 2022-01-24 EFO:1000748 pelvic lipomatosis skos:exactMatch DOID:3927 pelvic lipomatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000749 pemphigus skos:exactMatch DOID:9182 pemphigus semapv:ManualMappingCuration 2022-01-24 EFO:1000750 perinatal jaundice due to hepatocellular damage skos:exactMatch DOID:11452 perinatal jaundice due to hepatocellular damage semapv:ManualMappingCuration 2022-01-24 EFO:1000752 photosensitivity disease skos:exactMatch DOID:3159 photosensitivity disease semapv:ManualMappingCuration 2022-01-24 EFO:1000753 phototoxic dermatitis skos:exactMatch DOID:3818 photoallergic dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000753 phototoxic dermatitis skos:exactMatch DOID:4407 phototoxic dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000754 physical urticaria skos:exactMatch DOID:0060220 physical urticaria semapv:ManualMappingCuration 2022-01-24 EFO:1000755 pigmentation disease skos:exactMatch DOID:10123 pigmentation disease semapv:ManualMappingCuration 2022-01-24 EFO:1000756 pityriasis rosea skos:exactMatch DOID:8892 pityriasis rosea semapv:ManualMappingCuration 2022-01-24 EFO:1000757 porokeratosis skos:exactMatch DOID:3805 porokeratosis semapv:ManualMappingCuration 2022-01-24 EFO:1000758 punctate palmoplantar keratoderma type III skos:exactMatch DOID:0060362 punctate palmoplantar keratoderma type III semapv:ManualMappingCuration 2022-01-24 EFO:1000759 reactive cutaneous fibrous lesion skos:exactMatch DOID:2053 reactive cutaneous fibrous lesion semapv:ManualMappingCuration 2022-01-24 EFO:1000760 rosacea skos:exactMatch DOID:8881 rosacea semapv:ManualMappingCuration 2022-01-24 EFO:1000761 scalp dermatosis skos:exactMatch DOID:3136 scalp dermatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000762 scleredema adultorum skos:exactMatch DOID:3140 scleredema adultorum semapv:ManualMappingCuration 2022-01-24 EFO:1000763 sebaceous gland disease skos:exactMatch DOID:9098 sebaceous gland disease semapv:ManualMappingCuration 2022-01-24 EFO:1000764 seborrheic dermatitis skos:exactMatch DOID:8741 seborrheic dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000765 seborrheic infantile dermatitis skos:exactMatch DOID:8941 seborrheic infantile dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000766 skin atrophy skos:exactMatch DOID:2733 skin atrophy semapv:ManualMappingCuration 2022-01-24 EFO:1000767 skin sarcoidosis skos:exactMatch DOID:13402 skin sarcoidosis semapv:ManualMappingCuration 2022-01-24 EFO:1000768 spongiotic dermatitis skos:exactMatch DOID:4406 spongiotic dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000769 steroid lipomatosis skos:exactMatch DOID:3925 steroid lipomatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000770 stromal corneal pigmentation skos:exactMatch DOID:12311 stromal corneal pigmentation semapv:ManualMappingCuration 2022-01-24 EFO:1000771 subcorneal pustular dermatosis skos:exactMatch DOID:8508 subcorneal pustular dermatosis semapv:ManualMappingCuration 2022-01-24 EFO:1000772 sweat gland disease skos:exactMatch DOID:1383 sweat gland disease semapv:ManualMappingCuration 2022-01-24 EFO:1000773 toxicodendron dermatitis skos:exactMatch DOID:3819 toxicodendron dermatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000774 vesiculobullous skin disease skos:exactMatch DOID:2731 vesiculobullous skin disease semapv:ManualMappingCuration 2022-01-24 EFO:1000775 vibratory urticaria skos:exactMatch DOID:1554 vibratory urticaria semapv:ManualMappingCuration 2022-01-24 EFO:1000776 viral exanthem skos:exactMatch DOID:8672 viral exanthem semapv:ManualMappingCuration 2022-01-24 EFO:1000777 vulva fibroepithelial polyp skos:exactMatch DOID:8255 vulva fibroepithelial polyp semapv:ManualMappingCuration 2022-01-24 EFO:1000778 vulvar inverted follicular keratosis skos:exactMatch DOID:6943 vulvar inverted follicular keratosis semapv:ManualMappingCuration 2022-01-24 EFO:1000779 vulvar seborrheic keratosis skos:exactMatch DOID:6944 vulvar seborrheic keratosis semapv:ManualMappingCuration 2022-01-24 EFO:1000780 autoimmune pancreatitis type 1 skos:exactMatch DOID:0040091 autoimmune pancreatitis semapv:ManualMappingCuration 2023-12-04 EFO:1000781 overactive bladder skos:exactMatch DOID:0070355 overactive bladder syndrome semapv:ManualMappingCuration 2023-04-17 EFO:1000782 altitude sickness skos:exactMatch DOID:9005785 Altitude Sickness semapv:ManualMappingCuration 2023-12-04 EFO:1000783 diabetic neuropathy skos:exactMatch DOID:11503 diabetic autonomic neuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1000783 diabetic neuropathy skos:exactMatch DOID:12785 diabetic polyneuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1000783 diabetic neuropathy skos:exactMatch DOID:9743 diabetic neuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1000784 microscopic polyangiitis skos:exactMatch DOID:9005070 Microscopic Polyangiitis semapv:ManualMappingCuration 2023-12-04 EFO:1000785 Sezary's disease skos:exactMatch DOID:8541 Sezary's disease semapv:ManualMappingCuration 2022-01-24 EFO:1000786 osteoarthritis, hip skos:exactMatch DOID:9006041 Osteoarthritis, Hip semapv:ManualMappingCuration 2023-12-04 EFO:1000787 osteoarthritis, spine skos:exactMatch DOID:9005882 Spine Osteoarthritis semapv:ManualMappingCuration 2023-12-04 EFO:1000788 osteoarthritis, toe skos:exactMatch DOID:8398 osteoarthritis semapv:ManualMappingCuration 2023-12-04 EFO:1000789 osteoarthritis, hand skos:exactMatch DOID:9005040 Hand Osteoarthritis semapv:ManualMappingCuration 2023-12-04 EFO:1000790 acalculous cholecystitis skos:exactMatch DOID:2828 acalculous cholecystitis semapv:ManualMappingCuration 2022-01-24 EFO:1000791 acidophil adenoma skos:exactMatch DOID:5392 acidophil adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1000792 Acinetobacter infectious disease skos:exactMatch DOID:3091 Acinetobacter infectious disease semapv:ManualMappingCuration 2022-01-24 EFO:1000793 Actinobacillus infectious disease skos:exactMatch DOID:9007041 Actinobacillus Infections semapv:ManualMappingCuration 2023-12-04 EFO:1000794 acute kidney tubular necrosis skos:exactMatch DOID:12556 acute kidney tubular necrosis semapv:ManualMappingCuration 2022-01-24 EFO:1000795 acute retinal necrosis syndrome skos:exactMatch DOID:3611 acute retinal necrosis syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000796 adrenal cortex carcinoma skos:exactMatch DOID:3948 adrenocortical carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000796 adrenal cortex carcinoma skos:exactMatch DOID:3959 adrenal cortical adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000796 adrenal cortex carcinoma skos:exactMatch DOID:660 adrenal cortex cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000797 adrenal gland hyperfunction skos:exactMatch DOID:3947 adrenal gland hyperfunction semapv:ManualMappingCuration 2022-01-24 EFO:1000798 adrenal rest tumor skos:exactMatch DOID:1786 adrenal rest tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000799 afferent loop syndrome skos:exactMatch DOID:8438 afferent loop syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000800 alcohol withdrawal delirium skos:exactMatch DOID:9001129 Alcohol Withdrawal Delirium semapv:ManualMappingCuration 2023-12-04 EFO:1000801 alcoholic cardiomyopathy skos:exactMatch DOID:12935 alcoholic cardiomyopathy semapv:ManualMappingCuration 2022-01-24 EFO:1000802 alcoholic liver cirrhosis skos:exactMatch DOID:14018 alcoholic liver cirrhosis semapv:ManualMappingCuration 2022-01-24 EFO:1000803 alcoholic neuropathy skos:exactMatch DOID:14183 alcoholic neuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1000804 anal gland neoplasm skos:exactMatch DOID:4550 anal gland neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000805 angioid streaks skos:exactMatch DOID:13401 angioid streaks semapv:ManualMappingCuration 2022-01-24 EFO:1000806 angiomyoma skos:exactMatch DOID:4265 angiomyoma semapv:ManualMappingCuration 2022-01-24 EFO:1000807 anterior cerebral artery infarction skos:exactMatch DOID:3528 anterior cerebral artery infarction semapv:ManualMappingCuration 2022-01-24 EFO:1000808 anterior compartment syndrome skos:exactMatch DOID:3933 anterior compartment syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000809 anterior ischemic optic neuropathy skos:exactMatch DOID:12010 anterior ischemic optic neuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1000810 anterior spinal artery syndrome skos:exactMatch DOID:6712 anterior spinal artery syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000811 anterior uveitis skos:exactMatch DOID:1407 anterior uveitis semapv:ManualMappingCuration 2022-01-24 EFO:1000812 anterolateral myocardial infarction skos:exactMatch DOID:5845 anterolateral myocardial infarction semapv:ManualMappingCuration 2022-01-24 EFO:1000813 anthracosilicosis skos:exactMatch DOID:10324 anthracosilicosis semapv:ManualMappingCuration 2022-01-24 EFO:1000814 anthracosis skos:exactMatch DOID:10327 anthracosis semapv:ManualMappingCuration 2022-01-24 EFO:1000815 aortic valve prolapse skos:exactMatch DOID:5232 aortic valve prolapse semapv:ManualMappingCuration 2022-01-24 EFO:1000816 aortitis skos:exactMatch DOID:519 aortitis semapv:ManualMappingCuration 2022-01-24 EFO:1000817 apparent mineralocorticoid excess syndrome skos:exactMatch DOID:4367 apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000818 arcus senilis skos:exactMatch DOID:11342 arcus senilis semapv:ManualMappingCuration 2022-01-24 EFO:1000819 arteriolosclerosis skos:exactMatch DOID:5162 arteriolosclerosis semapv:ManualMappingCuration 2022-01-24 EFO:1000820 arteriosclerosis obliterans skos:exactMatch DOID:5160 arteriosclerosis obliterans semapv:ManualMappingCuration 2022-01-24 EFO:1000821 arthus reaction skos:exactMatch DOID:1556 arthus reaction semapv:ManualMappingCuration 2022-01-24 EFO:1000822 ascorbic acid deficiency skos:exactMatch DOID:9003737 Ascorbic Acid Deficiency semapv:ManualMappingCuration 2023-12-04 EFO:1000823 aseptic meningitis skos:exactMatch DOID:12157 aseptic meningitis semapv:ManualMappingCuration 2022-01-24 EFO:1000824 asphyxia neonatorum skos:exactMatch DOID:11088 asphyxia neonatorum semapv:ManualMappingCuration 2022-01-24 EFO:1000825 atrial heart septal defect skos:exactMatch DOID:1882 atrial heart septal defect semapv:ManualMappingCuration 2022-01-24 EFO:1000826 atrophic gastritis skos:exactMatch DOID:8929 atrophic gastritis semapv:ManualMappingCuration 2022-01-24 EFO:1000828 B- and T-cell mixed leukemia skos:exactMatch DOID:9953 acute biphenotypic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:1000829 bacterial conjunctivitis skos:exactMatch DOID:9700 bacterial conjunctivitis semapv:ManualMappingCuration 2022-01-24 EFO:1000830 bacterial endocarditis skos:exactMatch DOID:9006552 Bacterial Endocarditis semapv:ManualMappingCuration 2023-12-04 EFO:1000831 bacterial meningitis skos:exactMatch DOID:9470 bacterial meningitis semapv:ManualMappingCuration 2022-01-24 EFO:1000832 Bacteroides infectious disease skos:exactMatch DOID:9005284 Bacteroides Infections semapv:ManualMappingCuration 2023-12-04 EFO:1000833 balanitis skos:exactMatch DOID:13033 balanitis semapv:ManualMappingCuration 2022-01-24 EFO:1000834 basophil adenoma skos:exactMatch DOID:4542 basophil adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1000835 benign fibrous mesothelioma skos:exactMatch DOID:2653 benign fibrous mesothelioma semapv:ManualMappingCuration 2022-01-24 EFO:1000836 benign monoclonal gammopathy skos:exactMatch DOID:7442 monoclonal gammopathy of uncertain significance semapv:ManualMappingCuration 2023-12-04 EFO:1000837 beriberi skos:exactMatch DOID:0070313 thiamine deficiency disease semapv:ManualMappingCuration 2022-01-24 EFO:1000837 beriberi skos:exactMatch DOID:13725 beriberi semapv:ManualMappingCuration 2022-01-24 EFO:1000838 bile reflux skos:exactMatch DOID:12237 bile reflux semapv:ManualMappingCuration 2022-01-24 EFO:1000839 bladder calculus skos:exactMatch DOID:11355 bladder calculus semapv:ManualMappingCuration 2022-01-24 EFO:1000840 bladder neck obstruction skos:exactMatch DOID:13948 bladder neck obstruction semapv:ManualMappingCuration 2022-01-24 EFO:1000841 blue nevus skos:exactMatch DOID:9001740 Blue Nevus semapv:ManualMappingCuration 2023-12-04 EFO:1000842 Borrelia infectious disease skos:exactMatch DOID:9004477 Borrelia Infections semapv:ManualMappingCuration 2023-12-04 EFO:1000843 brachial plexus neuritis skos:exactMatch DOID:3689 brachial plexus neuritis semapv:ManualMappingCuration 2022-01-24 EFO:1000844 brachial plexus neuropathy skos:exactMatch DOID:3690 brachial plexus neuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1000845 brain edema skos:exactMatch DOID:4724 brain edema semapv:ManualMappingCuration 2022-01-24 EFO:1000846 brain hypoxia-Ischemia skos:exactMatch DOID:9003676 Brain Hypoxia-Ischemia semapv:ManualMappingCuration 2023-12-04 EFO:1000847 brain stem infarction skos:exactMatch DOID:3523 brain stem infarction semapv:ManualMappingCuration 2022-01-24 EFO:1000848 breast cyst skos:exactMatch DOID:10350 breast cyst semapv:ManualMappingCuration 2022-01-24 EFO:1000849 bronchial neoplasm skos:exactMatch DOID:3906 bronchial benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000849 bronchial neoplasm skos:exactMatch DOID:9001241 Bronchial Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000850 burning mouth syndrome skos:exactMatch DOID:4331 burning mouth syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000851 byssinosis skos:exactMatch DOID:10323 byssinosis semapv:ManualMappingCuration 2022-01-24 EFO:1000852 carcinoid syndrome skos:exactMatch DOID:9005598 Malignant Carcinoid Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1000853 carotid artery thrombosis skos:exactMatch DOID:3410 carotid artery thrombosis semapv:ManualMappingCuration 2022-01-24 EFO:1000854 causalgia skos:exactMatch DOID:3222 causalgia semapv:ManualMappingCuration 2022-01-24 EFO:1000855 central core myopathy skos:exactMatch DOID:3529 congenital myopathy 1A semapv:ManualMappingCuration 2022-01-24 EFO:1000856 central neurocytoma skos:exactMatch DOID:14174 central neurocytoma semapv:ManualMappingCuration 2022-01-24 EFO:1000857 central pontine myelinolysis skos:exactMatch DOID:636 central pontine myelinolysis semapv:ManualMappingCuration 2022-01-24 EFO:1000858 cerebellum cancer skos:exactMatch DOID:4205 cerebellum cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000859 cerebral arterial disease skos:exactMatch DOID:3527 cerebral arterial disease semapv:ManualMappingCuration 2022-01-24 EFO:1000860 cerebral atherosclerosis skos:exactMatch DOID:12720 cerebral atherosclerosis semapv:ManualMappingCuration 2022-01-24 EFO:1000861 cervical rib syndrome skos:exactMatch DOID:9004134 Cervical Rib Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1000862 cervix erosion skos:exactMatch DOID:3456 cervix erosion semapv:ManualMappingCuration 2022-01-24 EFO:1000863 Chlamydophila infectious disease skos:exactMatch DOID:9008527 Chlamydophila Infections semapv:ManualMappingCuration 2023-12-04 EFO:1000864 cholecystolithiasis skos:exactMatch DOID:11151 cholecystolithiasis semapv:ManualMappingCuration 2022-01-24 EFO:1000865 choledocholithiasis skos:exactMatch DOID:11755 choledocholithiasis semapv:ManualMappingCuration 2022-01-24 EFO:1000866 choroid cancer skos:exactMatch DOID:12759 choroid cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000867 chromophobe adenoma skos:exactMatch DOID:3828 chromophobe adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1000868 chronic inflammatory demyelinating polyradiculoneuropathy skos:exactMatch DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1000869 chronic interstitial cystitis skos:exactMatch DOID:1678 chronic interstitial cystitis semapv:ManualMappingCuration 2022-01-24 EFO:1000870 CNS demyelinating autoimmune disease skos:exactMatch DOID:9007010 Demyelinating Autoimmune Diseases, CNS semapv:ManualMappingCuration 2023-12-04 EFO:1000871 colonic pseudo-obstruction skos:exactMatch DOID:3876 colonic pseudo-obstruction semapv:ManualMappingCuration 2022-01-24 EFO:1000872 commensal Bacteroidaceae infectious disease skos:exactMatch DOID:9002529 Bacteroidaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1000873 commensal Bifidobacteriales infectious disease skos:exactMatch DOID:9006887 Bifidobacteriales Infections semapv:ManualMappingCuration 2023-12-04 EFO:1000874 commensal Clostridium infectious disease skos:exactMatch DOID:9006732 Clostridium Infections semapv:ManualMappingCuration 2023-12-04 EFO:1000875 commensal Desulfovibrionaceae infectious disease skos:exactMatch DOID:9000464 Desulfovibrionaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1000876 common bile duct neoplasm skos:exactMatch DOID:4608 common bile duct neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000877 complex partial epilepsy skos:exactMatch DOID:12382 complex partial epilepsy semapv:ManualMappingCuration 2022-01-24 EFO:1000878 constrictive pericarditis skos:exactMatch DOID:11481 constrictive pericarditis semapv:ManualMappingCuration 2022-01-24 EFO:1000879 corneal edema skos:exactMatch DOID:11030 corneal edema semapv:ManualMappingCuration 2022-01-24 EFO:1000880 corneal neovascularization skos:exactMatch DOID:11382 corneal neovascularization semapv:ManualMappingCuration 2022-01-24 EFO:1000881 coronary aneurysm skos:exactMatch DOID:3362 coronary aneurysm semapv:ManualMappingCuration 2022-01-24 EFO:1000883 coronary thrombosis skos:exactMatch DOID:11847 coronary thrombosis semapv:ManualMappingCuration 2022-01-24 EFO:1000884 cranial nerve malignant neoplasm skos:exactMatch DOID:2815 cranial nerve malignant neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000885 cutaneous fibrous histiocytoma skos:exactMatch DOID:4418 cutaneous fibrous histiocytoma semapv:ManualMappingCuration 2022-01-24 EFO:1000886 cutaneous mastocytosis skos:exactMatch DOID:3663 cutaneous mastocytosis semapv:ManualMappingCuration 2022-01-24 EFO:1000887 cutaneous syphilis skos:exactMatch DOID:9008437 Cutaneous Syphilis semapv:ManualMappingCuration 2023-12-04 EFO:1000888 cystic lymphangioma skos:exactMatch DOID:3081 cystic lymphangioma semapv:ManualMappingCuration 2022-01-24 EFO:1000889 cystic, mucinous, and serous neoplasm skos:exactMatch DOID:9008105 Cystic, Mucinous, and Serous Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000890 Dandy-Walker syndrome skos:exactMatch DOID:2785 Dandy-Walker syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000891 De Quervain disease skos:exactMatch DOID:14107 De Quervain disease semapv:ManualMappingCuration 2022-01-24 EFO:1000892 dental fluorosis skos:exactMatch DOID:13711 dental fluorosis semapv:ManualMappingCuration 2022-01-24 EFO:1000893 denture stomatitis skos:exactMatch DOID:11875 denture stomatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000894 dermoid cyst skos:exactMatch DOID:2658 dermoid cyst semapv:ManualMappingCuration 2022-01-24 EFO:1000895 desmoplastic small round cell tumor skos:exactMatch DOID:6785 desmoplastic small round cell tumor semapv:ManualMappingCuration 2023-03-17 EFO:1000896 diabetic angiopathy skos:exactMatch DOID:11713 diabetic angiopathy semapv:ManualMappingCuration 2022-01-24 EFO:1000897 diabetic ketoacidosis skos:exactMatch DOID:1837 diabetic ketoacidosis semapv:ManualMappingCuration 2022-01-24 EFO:1000898 diaphragmatic eventration skos:exactMatch DOID:10480 diaphragmatic eventration semapv:ManualMappingCuration 2022-01-24 EFO:1000899 diastolic heart failure skos:exactMatch DOID:9775 diastolic heart failure semapv:ManualMappingCuration 2022-01-24 EFO:1000900 discitis skos:exactMatch DOID:10986 discitis semapv:ManualMappingCuration 2022-01-24 EFO:1000901 discrete subaortic stenosis skos:exactMatch DOID:5804 discrete subaortic stenosis semapv:ManualMappingCuration 2022-01-24 EFO:1000902 drug psychosis skos:exactMatch DOID:1742 drug psychosis semapv:ManualMappingCuration 2022-01-24 EFO:1000903 drug-induced akathisia skos:exactMatch DOID:9000054 Drug-Induced Akathisia semapv:ManualMappingCuration 2023-12-04 EFO:1000904 drug-Induced dyskinesia skos:exactMatch DOID:9008394 Drug-Induced Dyskinesia semapv:ManualMappingCuration 2023-12-04 EFO:1000905 drug-induced hepatitis skos:exactMatch DOID:2044 drug-induced hepatitis semapv:ManualMappingCuration 2022-01-24 EFO:1000906 dry eye syndrome skos:exactMatch DOID:10140 dry eye syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000906 dry eye syndrome skos:exactMatch DOID:12895 keratoconjunctivitis sicca semapv:ManualMappingCuration 2022-01-24 EFO:1000907 duodenal benign neoplasm skos:exactMatch DOID:1737 duodenal benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000908 duodenal obstruction skos:exactMatch DOID:3558 duodenal obstruction semapv:ManualMappingCuration 2022-01-24 EFO:1000909 duodenogastric reflux skos:exactMatch DOID:4071 duodenogastric reflux semapv:ManualMappingCuration 2022-01-24 EFO:1000910 dysplasia of cervix skos:exactMatch DOID:9006096 Uterine Cervical Dysplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000911 dystocia skos:exactMatch DOID:9008893 Dystocia semapv:ManualMappingCuration 2023-12-04 EFO:1000912 eccrine acrospiroma skos:exactMatch DOID:5442 eccrine acrospiroma semapv:ManualMappingCuration 2022-01-24 EFO:1000913 ehrlich tumor carcinoma skos:exactMatch DOID:5050 Ehrlich tumor carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000914 empty sella syndrome skos:exactMatch DOID:3642 empty sella syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000915 encephalomalacia skos:exactMatch DOID:2034 encephalomalacia semapv:ManualMappingCuration 2022-01-24 EFO:1000916 endemic goiter skos:exactMatch DOID:13198 endemic goiter semapv:ManualMappingCuration 2022-01-24 EFO:1000917 endocrine tuberculosis skos:exactMatch DOID:9000477 Endocrine Tuberculosis semapv:ManualMappingCuration 2023-12-04 EFO:1000918 endolymphatic hydrops skos:exactMatch DOID:9848 endolymphatic hydrops semapv:ManualMappingCuration 2022-01-24 EFO:1000919 endometrial stromal sarcoma skos:exactMatch DOID:4226 endometrial stromal sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1000920 endometrial stromal tumor skos:exactMatch DOID:5166 endometrial stromal tumor semapv:ManualMappingCuration 2022-01-24 EFO:1000921 endomyocardial fibrosis skos:exactMatch DOID:12932 endomyocardial fibrosis semapv:ManualMappingCuration 2022-01-24 EFO:1000922 enterotoxemia skos:exactMatch DOID:9006622 Enterotoxemia semapv:ManualMappingCuration 2023-12-04 EFO:1000923 epidural neoplasm skos:exactMatch DOID:3618 epidural spinal canal neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000924 epilepsia partialis continua skos:exactMatch DOID:9006076 Epilepsia Partialis Continua semapv:ManualMappingCuration 2023-12-04 EFO:1000925 epithelioid and spindle cell nevus skos:exactMatch DOID:9001326 Nevus, Epithelioid and Spindle Cell semapv:ManualMappingCuration 2023-12-04 EFO:1000926 Erdheim-Chester disease skos:exactMatch DOID:4329 Erdheim-Chester disease semapv:ManualMappingCuration 2022-01-24 EFO:1000928 Erysipelothrix rhusiopathiae infectious disease skos:exactMatch DOID:0050061 erysipeloid semapv:ManualMappingCuration 2023-03-06 EFO:1000929 Escherichia coli meningitis skos:exactMatch DOID:9000889 Escherichia Coli Meningitis semapv:ManualMappingCuration 2023-12-04 EFO:1000930 esophageal diverticulosis skos:exactMatch DOID:13185 esophageal diverticulosis semapv:ManualMappingCuration 2022-01-24 EFO:1000931 euthyroid sick syndrome skos:exactMatch DOID:2856 euthyroid sick syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000932 extracutaneous mastocytoma skos:exactMatch DOID:4659 extracutaneous mastocytoma semapv:ManualMappingCuration 2022-01-24 EFO:1000933 extrahepatic cholestasis skos:exactMatch DOID:13619 extrahepatic cholestasis semapv:ManualMappingCuration 2022-01-24 EFO:1000934 eyelid neoplasm skos:exactMatch DOID:2173 eyelid benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000935 female genital tuberculosis skos:exactMatch DOID:9001409 Female Genital Tuberculosis semapv:ManualMappingCuration 2023-12-04 EFO:1000936 femoral neuropathy skos:exactMatch DOID:4196 femoral neuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1000937 fetal erythroblastosis skos:exactMatch DOID:1098 hemolytic disease of the fetus semapv:ManualMappingCuration 2022-01-24 EFO:1000938 fibromuscular dysplasia skos:exactMatch DOID:9003785 Fibromuscular Dysplasia semapv:ManualMappingCuration 2023-12-04 EFO:1000939 freemartinism skos:exactMatch DOID:4671 freemartinism semapv:ManualMappingCuration 2022-01-24 EFO:1000940 Frey Syndrome skos:exactMatch DOID:11599 Frey syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000941 frozen shoulder skos:exactMatch DOID:14188 frozen shoulder semapv:ManualMappingCuration 2022-01-24 EFO:1000942 fungal meningitis skos:exactMatch DOID:11608 fungal meningitis semapv:ManualMappingCuration 2022-01-24 EFO:1000943 Fusobacterium infectious disease skos:exactMatch DOID:9001724 Fusobacterium Infections semapv:ManualMappingCuration 2023-12-04 EFO:1000944 gait apraxia skos:exactMatch DOID:4260 gait apraxia semapv:ManualMappingCuration 2022-01-24 EFO:1000945 gastric antral vascular ectasia skos:exactMatch DOID:2493 gastric antral vascular ectasia semapv:ManualMappingCuration 2022-01-24 EFO:1000946 gastric mucosal hypertrophy skos:exactMatch DOID:8757 gastric mucosal hypertrophy semapv:ManualMappingCuration 2022-01-24 EFO:1000947 gastric outlet obstruction skos:exactMatch DOID:3122 gastric outlet obstruction semapv:ManualMappingCuration 2022-01-24 EFO:1000948 gastroparesis skos:exactMatch DOID:11914 gastroparesis semapv:ManualMappingCuration 2022-01-24 EFO:1000949 gastroschisis skos:exactMatch DOID:11044 gastroschisis semapv:ManualMappingCuration 2022-01-24 EFO:1000950 giant cell reparative granuloma skos:exactMatch DOID:1866 giant cell reparative granuloma semapv:ManualMappingCuration 2022-01-24 EFO:1000951 glossitis skos:exactMatch DOID:1456 glossitis semapv:ManualMappingCuration 2022-01-24 EFO:1000952 glycogen storage disease VIII skos:exactMatch DOID:2751 glycogen storage disease VIII semapv:ManualMappingCuration 2022-01-24 EFO:1000953 gonadal tissue neoplasm skos:exactMatch DOID:9005959 Gonadal Tissue Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000954 habitual abortion skos:exactMatch DOID:9007479 Habitual Abortions semapv:ManualMappingCuration 2023-12-04 EFO:1000955 Haemophilus influenzae meningitis skos:exactMatch DOID:0080179 haemophilus meningitis semapv:ManualMappingCuration 2022-01-24 EFO:1000956 hairy cell leukemia skos:exactMatch DOID:285 hairy cell leukemia semapv:ManualMappingCuration 2022-01-24 EFO:1000957 hairy tongue skos:exactMatch DOID:13500 hairy tongue semapv:ManualMappingCuration 2022-01-24 EFO:1000958 halo nevus skos:exactMatch DOID:9002577 Halo Nevus semapv:ManualMappingCuration 2023-12-04 EFO:1000959 heart aneurysm skos:exactMatch DOID:9768 heart aneurysm semapv:ManualMappingCuration 2022-01-24 EFO:1000960 heartwater disease skos:exactMatch DOID:9006636 Heartwater Disease semapv:ManualMappingCuration 2023-12-04 EFO:1000961 Helicobacter pylori infectious disease skos:exactMatch DOID:9008114 Helicobacter Infections semapv:ManualMappingCuration 2023-12-04 EFO:1000962 hemometra skos:exactMatch DOID:9958 hemometra semapv:ManualMappingCuration 2022-01-24 EFO:1000963 hemopneumothorax skos:exactMatch DOID:2718 hemopneumothorax semapv:ManualMappingCuration 2022-01-24 EFO:1000964 hemorrhagic disease of newborn skos:exactMatch DOID:11249 vitamin K deficiency bleeding semapv:ManualMappingCuration 2023-12-04 EFO:1000965 Henoch-Schoenlein purpura skos:exactMatch DOID:11123 Henoch-Schoenlein purpura semapv:ManualMappingCuration 2022-01-24 EFO:1000966 hepatic vein thrombosis skos:exactMatch DOID:11512 Budd-Chiari syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000967 hidrocystoma skos:exactMatch DOID:3893 hidrocystoma semapv:ManualMappingCuration 2022-01-24 EFO:1000968 hydrophthalmos skos:exactMatch DOID:11212 hydrophthalmos semapv:ManualMappingCuration 2022-01-24 EFO:1000969 hyperamylasemia skos:exactMatch DOID:9001176 Hyperamylasemia semapv:ManualMappingCuration 2023-12-04 EFO:1000970 hypercementosis skos:exactMatch DOID:12733 hypercementosis semapv:ManualMappingCuration 2022-01-24 EFO:1000971 hyperemesis gravidarum skos:exactMatch DOID:9007105 Hyperemesis Gravidarum semapv:ManualMappingCuration 2023-12-04 EFO:1000972 hyperglobulinemic purpura skos:exactMatch DOID:3325 hyperglobulinemic purpura semapv:ManualMappingCuration 2022-01-24 EFO:1000973 hyperpituitarism skos:exactMatch DOID:2444 hyperpituitarism semapv:ManualMappingCuration 2022-01-24 EFO:1000974 hypersensitivity vasculitis skos:exactMatch DOID:9809 hypersensitivity vasculitis semapv:ManualMappingCuration 2022-01-24 EFO:1000975 hypersplenism skos:exactMatch DOID:6376 hypersplenism semapv:ManualMappingCuration 2022-01-24 EFO:1000976 hypertensive encephalopathy skos:exactMatch DOID:9427 hypertensive encephalopathy semapv:ManualMappingCuration 2022-01-24 EFO:1000977 hypertensive retinopathy skos:exactMatch DOID:11561 hypertensive retinopathy semapv:ManualMappingCuration 2022-01-24 EFO:1000978 hypervitaminosis A skos:exactMatch DOID:9972 hypervitaminosis A semapv:ManualMappingCuration 2022-01-24 EFO:1000979 hypothalamic neoplasm skos:exactMatch DOID:3644 hypothalamic neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000980 ideomotor apraxia skos:exactMatch DOID:4627 ideomotor apraxia semapv:ManualMappingCuration 2022-01-24 EFO:1000981 ileal neoplasm skos:exactMatch DOID:10156 benign ileal neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1000981 ileal neoplasm skos:exactMatch DOID:9000670 Ileal Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1000982 inappropriate ADH syndrome skos:exactMatch DOID:3401 inappropriate ADH syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000983 inferior myocardial infarction skos:exactMatch DOID:5850 inferior myocardial infarction semapv:ManualMappingCuration 2022-01-24 EFO:1000984 inflammatory breast carcinoma skos:exactMatch DOID:6263 inflammatory breast carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1000985 intermediate coronary syndrome skos:exactMatch DOID:8805 intermediate coronary syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1000986 intermediate uveitis skos:exactMatch DOID:12732 intermediate uveitis semapv:ManualMappingCuration 2022-01-24 EFO:1000987 intestinal perforation skos:exactMatch DOID:2074 intestinal perforation semapv:ManualMappingCuration 2022-01-24 EFO:1000988 intestinal pseudo-obstruction skos:exactMatch DOID:0080072 intestinal pseudo-obstruction semapv:ManualMappingCuration 2023-12-04 EFO:1000989 intestinal volvulus skos:exactMatch DOID:8445 intestinal volvulus semapv:ManualMappingCuration 2022-01-24 EFO:1000990 intracranial arterial disease skos:exactMatch DOID:13089 intracranial arterial disease semapv:ManualMappingCuration 2022-01-24 EFO:1000991 intracranial embolism skos:exactMatch DOID:4372 intracranial embolism semapv:ManualMappingCuration 2022-01-24 EFO:1000992 intracranial hypertension skos:exactMatch DOID:9428 intracranial hypertension semapv:ManualMappingCuration 2022-01-24 EFO:1000993 intracranial hypotension skos:exactMatch DOID:4723 intracranial hypotension semapv:ManualMappingCuration 2022-01-24 EFO:1000994 intracranial vasospasm skos:exactMatch DOID:13100 intracranial vasospasm semapv:ManualMappingCuration 2022-01-24 EFO:1000995 intradermal nevus skos:exactMatch DOID:9004405 Intradermal Nevus semapv:ManualMappingCuration 2023-12-04 EFO:1000996 iris cancer skos:exactMatch DOID:3478 iris cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000997 iritis skos:exactMatch DOID:1406 iritis semapv:ManualMappingCuration 2022-01-24 EFO:1000998 jejunal cancer skos:exactMatch DOID:13499 jejunal cancer semapv:ManualMappingCuration 2022-01-24 EFO:1000999 joint disease skos:exactMatch DOID:381 arthropathy semapv:ManualMappingCuration 2022-01-24 EFO:1001000 juxtacortical osteosarcoma skos:exactMatch DOID:3373 parosteal osteosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1001002 kernicterus skos:exactMatch DOID:2382 kernicterus semapv:ManualMappingCuration 2022-01-24 EFO:1001003 kidney cortex necrosis skos:exactMatch DOID:2973 kidney cortex necrosis semapv:ManualMappingCuration 2022-01-24 EFO:1001004 kidney papillary necrosis skos:exactMatch DOID:2981 kidney papillary necrosis semapv:ManualMappingCuration 2022-01-24 EFO:1001005 Klatskin's tumor skos:exactMatch DOID:4927 Klatskin's tumor semapv:ManualMappingCuration 2022-01-24 EFO:1001006 Klinefelter's syndrome skos:exactMatch DOID:1921 Klinefelter syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001007 krebs 2 carcinoma skos:exactMatch DOID:9004780 Carcinoma, Krebs 2 semapv:ManualMappingCuration 2023-12-04 EFO:1001008 kuru skos:exactMatch DOID:648 kuru semapv:ManualMappingCuration 2022-01-24 EFO:1001009 kwashiorkor skos:exactMatch DOID:13579 kwashiorkor semapv:ManualMappingCuration 2022-01-24 EFO:1001010 Landau-Kleffner syndrome skos:exactMatch DOID:2538 Landau-Kleffner syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001011 lateral medullary syndrome skos:exactMatch DOID:3522 lateral medullary syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001012 leptomeningeal metastasis skos:exactMatch DOID:9001673 leptomeningeal metastasis semapv:ManualMappingCuration 2023-12-04 EFO:1001013 lethal midline granuloma skos:exactMatch DOID:9072 lethal midline granuloma semapv:ManualMappingCuration 2022-01-24 EFO:1001014 leukemoid reaction skos:exactMatch DOID:9000933 Leukemoid Reaction semapv:ManualMappingCuration 2023-12-04 EFO:1001015 leukoplakia of penis skos:exactMatch DOID:8738 leukoplakia of penis semapv:ManualMappingCuration 2022-01-24 EFO:1001016 leukostasis skos:exactMatch DOID:12986 leukostasis semapv:ManualMappingCuration 2022-01-24 EFO:1001017 limited scleroderma skos:exactMatch DOID:1577 limited scleroderma semapv:ManualMappingCuration 2022-01-24 EFO:1001018 lingual goiter skos:exactMatch DOID:13196 lingual goiter semapv:ManualMappingCuration 2022-01-24 EFO:1001019 lip cancer skos:exactMatch DOID:8564 lip cancer semapv:ManualMappingCuration 2022-01-24 EFO:1001020 lipoid nephrosis skos:exactMatch DOID:10966 lipoid nephrosis semapv:ManualMappingCuration 2022-01-24 EFO:1001021 Listeria meningitis skos:exactMatch DOID:11572 listeria meningitis semapv:ManualMappingCuration 2022-01-24 EFO:1001022 low tension glaucoma skos:exactMatch DOID:13544 low tension glaucoma semapv:ManualMappingCuration 2022-01-24 EFO:1001023 lupus vulgaris skos:exactMatch DOID:9006490 Lupus Vulgaris semapv:ManualMappingCuration 2023-12-04 EFO:1001024 Lutembacher's syndrome skos:exactMatch DOID:1998 Lutembacher's syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001025 lymphangiectasis skos:exactMatch DOID:9002335 Lymphangiectasis semapv:ManualMappingCuration 2023-12-04 EFO:1001026 lymphangioendothelioma skos:exactMatch DOID:1475 lymphangioma semapv:ManualMappingCuration 2023-12-04 EFO:1001027 lymphangiomyoma skos:exactMatch DOID:9007091 Lymphangiomyoma semapv:ManualMappingCuration 2023-12-04 EFO:1001028 macular holes skos:exactMatch DOID:7633 macular holes semapv:ManualMappingCuration 2022-01-24 EFO:1001029 magnesium deficiency skos:exactMatch DOID:0060879 primary hypomagnesemia semapv:ManualMappingCuration 2023-12-04 EFO:1001030 male genital tuberculosis skos:exactMatch DOID:9002028 Tuberculosis, Male Genital semapv:ManualMappingCuration 2023-12-04 EFO:1001031 malignant hypertension skos:exactMatch DOID:10824 malignant hypertension semapv:ManualMappingCuration 2022-01-24 EFO:1001032 malignant lymphatic vessel tumor skos:exactMatch DOID:9003008 Lymphatic Vessel Tumors semapv:ManualMappingCuration 2023-12-04 EFO:1001033 marasmus skos:exactMatch DOID:12328 marasmus semapv:ManualMappingCuration 2022-01-24 EFO:1001034 mastitis skos:exactMatch DOID:10690 mastitis semapv:ManualMappingCuration 2022-01-24 EFO:1001035 maxillary sinus neoplasm skos:exactMatch DOID:1358 maxillary sinus benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1001035 maxillary sinus neoplasm skos:exactMatch DOID:9001615 Maxillary Sinus Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001036 Meckel's diverticulum skos:exactMatch DOID:9487 Meckel's diverticulum semapv:ManualMappingCuration 2022-01-24 EFO:1001037 meconium aspiration syndrome skos:exactMatch DOID:11049 meconium aspiration syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001038 melanotic neuroectodermal tumor skos:exactMatch DOID:166 melanotic neuroectodermal tumor semapv:ManualMappingCuration 2022-01-24 EFO:1001039 Melkersson-Rosenthal syndrome skos:exactMatch DOID:1761 Melkersson-Rosenthal syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001040 meningococcal meningitis skos:exactMatch DOID:0080176 meningococcal meningitis semapv:ManualMappingCuration 2022-01-24 EFO:1001041 mesenchymal chondrosarcoma skos:exactMatch DOID:4545 mesenchymal chondrosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1001042 mesenchymoma skos:exactMatch DOID:2668 mesenchymoma semapv:ManualMappingCuration 2022-01-24 EFO:1001043 mesenteric vascular occlusion skos:exactMatch DOID:13252 mesenteric vascular occlusion semapv:ManualMappingCuration 2022-01-24 EFO:1001044 mesothelial neoplasm skos:exactMatch DOID:9002899 Mesothelial Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001045 middle cerebral artery infarction skos:exactMatch DOID:3525 middle cerebral artery infarction semapv:ManualMappingCuration 2022-01-24 EFO:1001047 mouth disease skos:exactMatch DOID:403 mouth disease semapv:ManualMappingCuration 2022-01-24 EFO:1001048 mucinous cystadenoma skos:exactMatch DOID:9000558 Mucinous Cystadenoma semapv:ManualMappingCuration 2023-12-04 EFO:1001050 multiple system atrophy skos:exactMatch DOID:4752 multiple system atrophy semapv:ManualMappingCuration 2022-01-24 EFO:1001051 mycosis fungoides skos:exactMatch DOID:8691 mycosis fungoides semapv:ManualMappingCuration 2022-01-24 EFO:1001052 myeloid sarcoma skos:exactMatch DOID:8683 myeloid sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1001053 myoclonic cerebellar dyssynergia skos:exactMatch DOID:12707 myoclonic cerebellar dyssynergia semapv:ManualMappingCuration 2022-01-24 EFO:1001054 myofascial pain syndrome skos:exactMatch DOID:431 myofascial pain syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001055 myxedema skos:exactMatch DOID:11634 myxedema semapv:ManualMappingCuration 2022-01-24 EFO:1001056 myxosarcoma skos:exactMatch DOID:4136 myxosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1001057 necrotizing sialometaplasia skos:exactMatch DOID:12901 necrotizing sialometaplasia semapv:ManualMappingCuration 2022-01-24 EFO:1001058 necrotizing ulcerative gingivitis skos:exactMatch DOID:13924 necrotizing ulcerative gingivitis semapv:ManualMappingCuration 2022-01-24 EFO:1001059 neonatal myasthenia gravis skos:exactMatch DOID:14043 neonatal myasthenia gravis semapv:ManualMappingCuration 2022-01-24 EFO:1001060 neovascular glaucoma skos:exactMatch DOID:1687 neovascular glaucoma semapv:ManualMappingCuration 2022-01-24 EFO:1001061 neurogenic bowel skos:exactMatch DOID:13419 neurogenic bowel semapv:ManualMappingCuration 2022-01-24 EFO:1001062 nodular goiter skos:exactMatch DOID:13197 nodular goiter semapv:ManualMappingCuration 2022-01-24 EFO:1001063 noma skos:exactMatch DOID:9672 noma semapv:ManualMappingCuration 2022-01-24 EFO:1001064 non-gestational choriocarcinoma skos:exactMatch DOID:4320 non-gestational choriocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001065 normal pressure hydrocephalus skos:exactMatch DOID:1572 normal pressure hydrocephalus semapv:ManualMappingCuration 2022-01-24 EFO:1001066 nut allergic reaction skos:exactMatch DOID:4379 nut allergy semapv:ManualMappingCuration 2022-01-24 EFO:1001067 nutritional deficiency disease skos:exactMatch DOID:5113 nutritional deficiency disease semapv:ManualMappingCuration 2022-01-24 EFO:1001068 obstructive jaundice skos:exactMatch DOID:13603 obstructive jaundice semapv:ManualMappingCuration 2022-01-24 EFO:1001069 ocular hypertension skos:exactMatch DOID:9282 ocular hypertension semapv:ManualMappingCuration 2022-01-24 EFO:1001070 ocular tuberculosis skos:exactMatch DOID:0070344 ocular tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:1001071 oophoritis skos:exactMatch DOID:10974 oophoritis semapv:ManualMappingCuration 2022-01-24 EFO:1001072 opportunistic Moraxellaceae infectious disease skos:exactMatch DOID:9005227 Moraxellaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001073 optic nerve neoplasm skos:exactMatch DOID:3419 optic nerve neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1001074 optic papillitis skos:exactMatch DOID:10175 optic papillitis semapv:ManualMappingCuration 2022-01-24 EFO:1001075 oral leukoedema skos:exactMatch DOID:4557 oral leukoedema semapv:ManualMappingCuration 2022-01-24 EFO:1001076 orbital cellulitis skos:exactMatch DOID:11234 orbital cellulitis semapv:ManualMappingCuration 2022-01-24 EFO:1001077 orbital plasma cell granuloma skos:exactMatch DOID:9369 orbital plasma cell granuloma semapv:ManualMappingCuration 2022-01-24 EFO:1001078 orchitis skos:exactMatch DOID:2518 orchitis semapv:ManualMappingCuration 2022-01-24 EFO:1001079 oxyphilic adenoma skos:exactMatch DOID:5389 oxyphilic adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1001080 Pancoast tumor skos:exactMatch DOID:8007 Pancoast tumor semapv:ManualMappingCuration 2022-01-24 EFO:1001081 panophthalmitis skos:exactMatch DOID:13732 panophthalmitis semapv:ManualMappingCuration 2022-01-24 EFO:1001082 panuveitis skos:exactMatch DOID:12030 panuveitis semapv:ManualMappingCuration 2022-01-24 EFO:1001083 papillary follicular thyroid adenocarcinoma skos:exactMatch DOID:3968 papillary follicular thyroid adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001084 parametritis skos:exactMatch DOID:1260 parametritis semapv:ManualMappingCuration 2022-01-24 EFO:1001085 paraneoplastic polyneuropathy skos:exactMatch DOID:8681 paraneoplastic polyneuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1001086 paraphimosis skos:exactMatch DOID:5334 paraphimosis semapv:ManualMappingCuration 2022-01-24 EFO:1001087 parathyroid adenoma skos:exactMatch DOID:7608 parathyroid adenoma semapv:ManualMappingCuration 2022-01-24 EFO:1001088 pars planitis skos:exactMatch DOID:12731 pars planitis semapv:ManualMappingCuration 2022-01-24 EFO:1001089 partial motor epilepsy skos:exactMatch DOID:3327 partial motor epilepsy semapv:ManualMappingCuration 2022-01-24 EFO:1001090 partial sensory epilepsy skos:exactMatch DOID:3330 partial sensory epilepsy semapv:ManualMappingCuration 2022-01-24 EFO:1001091 Pasteurella hemorrhagic septicemia skos:exactMatch DOID:9007724 Hemorrhagic Septicemia semapv:ManualMappingCuration 2023-12-04 EFO:1001092 patellofemoral pain syndrome skos:exactMatch DOID:14284 patellofemoral pain syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001093 Pelger-Huet anomaly skos:exactMatch DOID:9631 Pelger-Huet anomaly semapv:ManualMappingCuration 2022-01-24 EFO:1001094 penile neoplasm skos:exactMatch DOID:11624 penile benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1001094 penile neoplasm skos:exactMatch DOID:9003196 Penile Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001095 peptic esophagitis skos:exactMatch DOID:13976 peptic esophagitis semapv:ManualMappingCuration 2022-01-24 EFO:1001096 periapical granuloma skos:exactMatch DOID:4617 periapical granuloma semapv:ManualMappingCuration 2022-01-24 EFO:1001097 periarthritis skos:exactMatch DOID:2964 periarthritis semapv:ManualMappingCuration 2022-01-24 EFO:1001098 pericoronitis skos:exactMatch DOID:3671 pericoronitis semapv:ManualMappingCuration 2022-01-24 EFO:1001099 perinephritis skos:exactMatch DOID:2982 perinephritis semapv:ManualMappingCuration 2022-01-24 EFO:1001100 peritoneal neoplasm skos:exactMatch DOID:9001834 Peritoneal Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001101 periventricular leukomalacia skos:exactMatch DOID:13088 periventricular leukomalacia semapv:ManualMappingCuration 2022-01-24 EFO:1001102 peroneal nerve paralysis skos:exactMatch DOID:6925 peroneal nerve paralysis semapv:ManualMappingCuration 2022-01-24 EFO:1001103 persistent fetal circulation syndrome skos:exactMatch DOID:13042 persistent fetal circulation syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001104 phimosis skos:exactMatch DOID:2712 phimosis semapv:ManualMappingCuration 2022-01-24 EFO:1001105 pigmented spindle cell nevus skos:exactMatch DOID:9007860 Spindle Cell Nevus semapv:ManualMappingCuration 2023-12-04 EFO:1001106 pigmented villonodular synovitis skos:exactMatch DOID:2702 pigmented villonodular synovitis semapv:ManualMappingCuration 2022-01-24 EFO:1001107 pilar sheath acanthoma skos:exactMatch DOID:4322 pilar sheath acanthoma semapv:ManualMappingCuration 2022-01-24 EFO:1001108 pituitary apoplexy skos:exactMatch DOID:1129 pituitary apoplexy semapv:ManualMappingCuration 2022-01-24 EFO:1001109 pituitary dwarfism skos:exactMatch DOID:0060870 isolated growth hormone deficiency semapv:ManualMappingCuration 2023-12-04 EFO:1001110 pituitary-dependent Cushing's disease skos:exactMatch DOID:3946 pituitary-dependent Cushing's disease semapv:ManualMappingCuration 2022-01-24 EFO:1001111 placental site trophoblastic tumor skos:exactMatch DOID:3596 placental site trophoblastic tumor semapv:ManualMappingCuration 2022-01-24 EFO:1001112 platelet storage pool deficiency skos:exactMatch DOID:2223 platelet storage pool deficiency semapv:ManualMappingCuration 2022-01-24 EFO:1001113 pneumatosis cystoides intestinalis skos:exactMatch DOID:13249 pneumatosis cystoides intestinalis semapv:ManualMappingCuration 2022-01-24 EFO:1001114 pneumococcal meningitis skos:exactMatch DOID:9000113 Pneumococcal Meningitis semapv:ManualMappingCuration 2023-12-04 EFO:1001115 POEMS syndrome skos:exactMatch DOID:14039 POEMS syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001116 polyradiculoneuropathy skos:exactMatch DOID:4308 polyradiculoneuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1001117 postcholecystectomy syndrome skos:exactMatch DOID:9740 postcholecystectomy syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001118 posterior cerebral artery infarction skos:exactMatch DOID:3821 posterior cerebral artery infarction semapv:ManualMappingCuration 2022-01-24 EFO:1001119 posterior uveitis skos:exactMatch DOID:12574 posterior uveitis semapv:ManualMappingCuration 2022-01-24 EFO:1001120 potassium deficiency skos:exactMatch DOID:9005267 Potassium Deficiency semapv:ManualMappingCuration 2023-12-04 EFO:1001121 prediabetes syndrome skos:exactMatch DOID:11716 prediabetes syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001122 primary Actinomycetales infectious disease skos:exactMatch DOID:9000673 Actinomycetales Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001123 primary Anaplasmataceae infectious disease skos:exactMatch DOID:9008029 Anaplasmataceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001124 primary Bacillaceae infectious disease skos:exactMatch DOID:9004154 Bacillaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001125 primary Bartonellaceae infectious disease skos:exactMatch DOID:9003175 Bartonellaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001126 primary Fusobacteriaceae infectious disease skos:exactMatch DOID:9006349 Fusobacteriaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001127 primary Haemophilus infectious disease skos:exactMatch DOID:9000109 Haemophilus Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001128 Rickettsiaceae infectious disease skos:exactMatch DOID:9000458 Rickettsiaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001129 proliferative vitreoretinopathy skos:exactMatch DOID:9719 neovascular inflammatory vitreoretinopathy semapv:ManualMappingCuration 2022-01-24 EFO:1001130 Proteus infectious disease skos:exactMatch DOID:9000517 Proteus Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001131 pseudobulbar palsy skos:exactMatch DOID:12680 pseudobulbar palsy semapv:ManualMappingCuration 2022-01-24 EFO:1001132 pseudotumor cerebri skos:exactMatch DOID:11459 pseudotumor cerebri semapv:ManualMappingCuration 2022-01-24 EFO:1001133 pulmonary coin lesion skos:exactMatch DOID:5364 pulmonary coin lesion semapv:ManualMappingCuration 2022-01-24 EFO:1001134 pulmonary edema skos:exactMatch DOID:11396 pulmonary edema semapv:ManualMappingCuration 2022-01-24 EFO:1001135 pulmonary plasma cell granuloma skos:exactMatch DOID:3677 pulmonary plasma cell granuloma semapv:ManualMappingCuration 2022-01-24 EFO:1001137 pulmonary subvalvular stenosis skos:exactMatch DOID:8861 pulmonary subvalvular stenosis semapv:ManualMappingCuration 2022-01-24 EFO:1001138 pulmonary valve stenosis skos:exactMatch DOID:6420 pulmonary valve stenosis semapv:ManualMappingCuration 2022-01-24 EFO:1001139 pulpitis skos:exactMatch DOID:11121 pulpitis semapv:ManualMappingCuration 2022-01-24 EFO:1001140 pyelitis skos:exactMatch DOID:2744 pyelitis semapv:ManualMappingCuration 2022-01-24 EFO:1001141 pyelonephritis skos:exactMatch DOID:11400 pyelonephritis semapv:ManualMappingCuration 2022-01-24 EFO:1001142 pyruvate carboxylase deficiency disease skos:exactMatch DOID:3651 pyruvate carboxylase deficiency disease semapv:ManualMappingCuration 2022-01-24 EFO:1001143 radial nerve lesion skos:exactMatch DOID:12170 radial nerve lesion semapv:ManualMappingCuration 2022-01-24 EFO:1001144 rat-bite fever skos:exactMatch DOID:12096 sodoku disease semapv:ManualMappingCuration 2023-12-04 EFO:1001145 Raynaud disease skos:exactMatch DOID:10300 Raynaud disease semapv:ManualMappingCuration 2022-01-24 EFO:1001146 reflex epilepsy skos:exactMatch DOID:2548 reflex epilepsy semapv:ManualMappingCuration 2022-01-24 EFO:1001147 reflex sympathetic dystrophy skos:exactMatch DOID:1811 reflex sympathetic dystrophy semapv:ManualMappingCuration 2022-01-24 EFO:1001148 relapsing polychondritis skos:exactMatch DOID:2556 relapsing polychondritis semapv:ManualMappingCuration 2022-01-24 EFO:1001149 renal aminoaciduria skos:exactMatch DOID:9002207 Renal Aminoacidurias semapv:ManualMappingCuration 2023-12-04 EFO:1001150 renal artery obstruction skos:exactMatch DOID:2972 renal artery obstruction semapv:ManualMappingCuration 2022-01-24 EFO:1001151 renal glycosuria skos:exactMatch DOID:9432 renal glycosuria semapv:ManualMappingCuration 2022-01-24 EFO:1001152 renal osteodystrophy skos:exactMatch DOID:13068 renal osteodystrophy semapv:ManualMappingCuration 2022-01-24 EFO:1001153 renovascular hypertension skos:exactMatch DOID:1591 renovascular hypertension semapv:ManualMappingCuration 2022-01-24 EFO:1001154 retinal artery occlusion skos:exactMatch DOID:8483 retinal artery occlusion semapv:ManualMappingCuration 2022-01-24 EFO:1001155 retinal drusen skos:exactMatch DOID:2569 retinal drusen semapv:ManualMappingCuration 2022-01-24 EFO:1001156 retinal vasculitis skos:exactMatch DOID:11563 retinal vasculitis semapv:ManualMappingCuration 2022-01-24 EFO:1001157 retinal vein occlusion skos:exactMatch DOID:1727 retinal vein occlusion semapv:ManualMappingCuration 2022-01-24 EFO:1001158 retinopathy of prematurity skos:exactMatch DOID:13025 retinopathy of prematurity semapv:ManualMappingCuration 2022-01-24 EFO:1001159 Rh isoimmunization skos:exactMatch DOID:4175 Rh isoimmunization semapv:ManualMappingCuration 2022-01-24 EFO:1001160 rheumatic fever skos:exactMatch DOID:1586 rheumatic fever semapv:ManualMappingCuration 2022-01-24 EFO:1001161 rheumatic heart disease skos:exactMatch DOID:0050827 rheumatic heart disease semapv:ManualMappingCuration 2022-01-24 EFO:1001162 rickettsiosis skos:exactMatch DOID:9007347 Rickettsia Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001163 root caries skos:exactMatch DOID:14089 root caries semapv:ManualMappingCuration 2022-01-24 EFO:1001164 SAPHO syndrome skos:exactMatch DOID:13677 SAPHO syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001165 Schnitzler syndrome skos:exactMatch DOID:4371 Schnitzler syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001166 sciatic neuropathy skos:exactMatch DOID:11446 sciatic neuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1001167 scimitar syndrome skos:exactMatch DOID:4297 scimitar syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001168 scrapie skos:exactMatch DOID:5434 scrapie semapv:ManualMappingCuration 2022-01-24 EFO:1001169 scurvy skos:exactMatch DOID:13724 scurvy semapv:ManualMappingCuration 2022-01-24 EFO:1001171 sebaceous adenocarcinoma skos:exactMatch DOID:4839 sebaceous adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001171 sebaceous adenocarcinoma skos:exactMatch DOID:4840 sebaceous carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001172 sebaceous gland neoplasm skos:exactMatch DOID:5759 sebaceous gland neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1001173 secondary hyperparathyroidism skos:exactMatch DOID:12466 secondary hyperparathyroidism semapv:ManualMappingCuration 2022-01-24 EFO:1001174 secondary hypertrophic osteoarthropathy skos:exactMatch DOID:10393 secondary hypertrophic osteoarthropathy semapv:ManualMappingCuration 2022-01-24 EFO:1001175 secondary Parkinson disease skos:exactMatch DOID:13548 secondary Parkinson disease semapv:ManualMappingCuration 2022-01-24 EFO:1001176 sensorineural hearing loss skos:exactMatch DOID:10003 sensorineural hearing loss semapv:ManualMappingCuration 2022-01-24 EFO:1001177 septic abortion skos:exactMatch DOID:9003743 Septic Abortions semapv:ManualMappingCuration 2023-12-04 EFO:1001178 shoulder impingement syndrome skos:exactMatch DOID:14276 shoulder impingement syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001179 sialadenitis skos:exactMatch DOID:10303 sialadenitis semapv:ManualMappingCuration 2022-01-24 EFO:1001180 sialolithiasis skos:exactMatch DOID:12905 sialolithiasis semapv:ManualMappingCuration 2022-01-24 EFO:1001181 sigmoid neoplasm skos:exactMatch DOID:1896 sigmoid neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1001182 silo filler's disease skos:exactMatch DOID:4374 Silo filler's disease semapv:ManualMappingCuration 2022-01-24 EFO:1001183 skin appendage carcinoma skos:exactMatch DOID:9004395 Skin Appendage Carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001184 small cell sarcoma skos:exactMatch DOID:3098 small cell sarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1001185 smooth muscle tumor skos:exactMatch DOID:4310 smooth muscle tumor semapv:ManualMappingCuration 2022-01-24 EFO:1001186 Sneddon syndrome skos:exactMatch DOID:13096 Sneddon syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001187 somatostatinoma skos:exactMatch DOID:4430 somatostatinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001188 space motion sickness skos:exactMatch DOID:4796 space motion sickness semapv:ManualMappingCuration 2022-01-24 EFO:1001189 spermatocele skos:exactMatch DOID:11997 spermatocele semapv:ManualMappingCuration 2022-01-24 EFO:1001190 splenic infarction skos:exactMatch DOID:2533 splenic infarction semapv:ManualMappingCuration 2022-01-24 EFO:1001191 steatitis skos:exactMatch DOID:9008875 Steatitis semapv:ManualMappingCuration 2023-12-04 EFO:1001192 struma ovarii skos:exactMatch DOID:2640 struma ovarii semapv:ManualMappingCuration 2022-01-24 EFO:1001193 subacute bacterial endocarditis skos:exactMatch DOID:4562 subacute bacterial endocarditis semapv:ManualMappingCuration 2022-01-24 EFO:1001194 subacute thyroiditis skos:exactMatch DOID:7165 subacute thyroiditis semapv:ManualMappingCuration 2022-01-24 EFO:1001195 subclavian steal syndrome skos:exactMatch DOID:13002 subclavian steal syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001196 subdural empyema skos:exactMatch DOID:11389 subdural empyema semapv:ManualMappingCuration 2022-01-24 EFO:1001197 subependymal glioma skos:exactMatch DOID:4843 subependymal glioma semapv:ManualMappingCuration 2022-01-24 EFO:1001198 substernal goiter skos:exactMatch DOID:13200 substernal goiter semapv:ManualMappingCuration 2022-01-24 EFO:1001199 subvalvular aortic stenosis skos:exactMatch DOID:5805 subvalvular aortic stenosis semapv:ManualMappingCuration 2022-01-24 EFO:1001200 sulfhemoglobinemia skos:exactMatch DOID:12451 sulfhemoglobinemia semapv:ManualMappingCuration 2022-01-24 EFO:1001201 superior mesenteric artery syndrome skos:exactMatch DOID:3557 superior mesenteric artery syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001202 suppurative periapical periodontitis skos:exactMatch DOID:2562 suppurative periapical periodontitis semapv:ManualMappingCuration 2022-01-24 EFO:1001203 suppurative uveitis skos:exactMatch DOID:13140 suppurative uveitis semapv:ManualMappingCuration 2022-01-24 EFO:1001204 sweat gland neoplasm skos:exactMatch DOID:2664 sweat gland benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1001204 sweat gland neoplasm skos:exactMatch DOID:9007274 Sweat Gland Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001205 sympathetic ophthalmia skos:exactMatch DOID:12029 sympathetic ophthalmia semapv:ManualMappingCuration 2022-01-24 EFO:1001206 syphilitic aortitis skos:exactMatch DOID:9880 cardiovascular syphilis semapv:ManualMappingCuration 2023-12-04 EFO:1001207 systolic heart failure skos:exactMatch DOID:9651 systolic heart failure semapv:ManualMappingCuration 2022-01-24 EFO:1001208 tarsal tunnel syndrome skos:exactMatch DOID:12526 tarsal tunnel syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001209 temporal arteritis skos:exactMatch DOID:13375 temporal arteritis semapv:ManualMappingCuration 2022-01-24 EFO:1001210 tethered spinal cord syndrome skos:exactMatch DOID:1089 tethered spinal cord syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001211 thromboangiitis obliterans skos:exactMatch DOID:12918 thromboangiitis obliterans semapv:ManualMappingCuration 2022-01-24 EFO:1001212 thyroid crisis skos:exactMatch DOID:12837 thyroid crisis semapv:ManualMappingCuration 2022-01-24 EFO:1001213 tibial neuropathy skos:exactMatch DOID:1187 tibial neuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1001214 tonsil cancer skos:exactMatch DOID:8858 tonsil cancer semapv:ManualMappingCuration 2022-01-24 EFO:1001216 tooth disease skos:exactMatch DOID:1091 tooth disease semapv:ManualMappingCuration 2022-01-24 EFO:1001217 Treponema infectious disease skos:exactMatch DOID:9000746 Treponemal Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001218 tricuspid valve prolapse skos:exactMatch DOID:5644 tricuspid valve prolapse semapv:ManualMappingCuration 2022-01-24 EFO:1001219 trigeminal neuralgia skos:exactMatch DOID:12098 trigeminal neuralgia semapv:ManualMappingCuration 2022-01-24 EFO:1001220 trochlear nerve disease skos:exactMatch DOID:13864 trochlear nerve disease semapv:ManualMappingCuration 2022-01-24 EFO:1001221 twin-to-twin transfusion syndrome skos:exactMatch DOID:13576 twin-to-twin transfusion syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001222 type III hypersensitivity reaction disease skos:exactMatch DOID:1557 hypersensitivity reaction type III disease semapv:ManualMappingCuration 2022-01-24 EFO:1001223 ulcerative proctosigmoiditis skos:exactMatch DOID:9001164 Proctocolitis semapv:ManualMappingCuration 2023-12-04 EFO:1001224 ulnar neuropathy skos:exactMatch DOID:4613 ulnar neuropathy semapv:ManualMappingCuration 2022-01-24 EFO:1001225 Ureaplasma urealyticum urethritis skos:exactMatch DOID:9005461 Ureaplasma Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001226 uremia skos:exactMatch DOID:4676 uremia semapv:ManualMappingCuration 2022-01-24 EFO:1001227 ureterocele skos:exactMatch DOID:4022 ureterocele semapv:ManualMappingCuration 2022-01-24 EFO:1001228 ureterolithiasis skos:exactMatch DOID:14146 ureterolithiasis semapv:ManualMappingCuration 2022-01-24 EFO:1001229 maculopapular cutaneous mastocytosis skos:exactMatch DOID:12309 urticaria pigmentosa semapv:ManualMappingCuration 2022-01-24 EFO:1001230 uveal cancer skos:exactMatch DOID:3479 uveal cancer semapv:ManualMappingCuration 2022-01-24 EFO:1001231 uveitis skos:exactMatch DOID:13141 uveitis semapv:ManualMappingCuration 2022-01-24 EFO:1001232 uveoparotid fever skos:exactMatch DOID:13404 uveoparotid fever semapv:ManualMappingCuration 2022-01-24 EFO:1001233 variant Creutzfeldt-Jakob disease skos:exactMatch DOID:5435 variant Creutzfeldt-Jakob disease semapv:ManualMappingCuration 2022-01-24 EFO:1001234 vasculogenic impotence skos:exactMatch DOID:4762 vasculogenic impotence semapv:ManualMappingCuration 2022-01-24 EFO:1001235 Vibrio infectious disease skos:exactMatch DOID:9001564 Vibrio Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001236 viral meningitis skos:exactMatch DOID:10310 viral meningitis semapv:ManualMappingCuration 2022-01-24 EFO:1001237 vitamin A deficiency skos:exactMatch DOID:9008550 Vitamin A Deficiency semapv:ManualMappingCuration 2023-12-04 EFO:1001238 vitreous detachment skos:exactMatch DOID:9726 vitreous detachment semapv:ManualMappingCuration 2022-01-24 EFO:1001239 vulvitis skos:exactMatch DOID:3901 vulvitis semapv:ManualMappingCuration 2022-01-24 EFO:1001240 vulvovaginitis skos:exactMatch DOID:2273 vulvovaginitis semapv:ManualMappingCuration 2022-01-24 EFO:1001241 Wernicke encephalopathy skos:exactMatch DOID:2384 Wernicke encephalopathy semapv:ManualMappingCuration 2022-01-24 EFO:1001242 Wernicke-Korsakoff syndrome skos:exactMatch DOID:10915 Wernicke-Korsakoff syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001243 wheat allergic reaction skos:exactMatch DOID:3660 wheat allergy semapv:ManualMappingCuration 2022-01-24 EFO:1001244 xanthogranulomatous pyelonephritis skos:exactMatch DOID:11401 xanthogranulomatous pyelonephritis semapv:ManualMappingCuration 2022-01-24 EFO:1001245 Yersinia infectious disease skos:exactMatch DOID:9003800 Yersinia Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001246 Yersinia pseudotuberculosis infectious disease skos:exactMatch DOID:9008584 Yersinia Pseudotuberculosis Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001247 chancre skos:exactMatch DOID:4166 syphilis semapv:ManualMappingCuration 2023-12-04 EFO:1001248 non-alcoholic fatty liver skos:exactMatch DOID:0080546 non-alcoholic fatty liver semapv:ManualMappingCuration 2023-12-04 EFO:1001249 non-alcoholic steatohepatitis skos:exactMatch DOID:0080547 metabolic dysfunction-associated steatohepatitis semapv:ManualMappingCuration 2022-01-24 EFO:1001250 rotator cuff tear skos:exactMatch DOID:9002224 Rotator Cuff Injuries semapv:ManualMappingCuration 2023-12-04 EFO:1001252 gastric cardia carcinoma skos:exactMatch DOID:6270 gastric cardia carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001254 noise-induced hearing loss skos:exactMatch DOID:9002910 Hearing Loss, Noise-Induced semapv:ManualMappingCuration 2023-12-04 EFO:1001255 spontaneous abortion skos:exactMatch DOID:9003281 Spontaneous Abortions semapv:ManualMappingCuration 2023-12-04 EFO:1001256 ACTH Syndrome, Ectopic skos:exactMatch DOID:9001173 ACTH Syndrome, Ectopic semapv:ManualMappingCuration 2023-12-04 EFO:1001257 acute erythroblastic leukemia skos:exactMatch DOID:0080916 erythroleukemia semapv:ManualMappingCuration 2023-12-04 EFO:1001258 Adenomatosis, Pulmonary skos:exactMatch DOID:9001602 Pulmonary Adenomatosis semapv:ManualMappingCuration 2023-12-04 EFO:1001259 Adenoviridae Infections skos:exactMatch DOID:9000873 Adenoviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001260 alcoholic psychosis skos:exactMatch DOID:252 alcoholic psychosis semapv:ManualMappingCuration 2022-01-24 EFO:1001261 Alien Hand Syndrome skos:exactMatch DOID:9001656 Alien Hand Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001262 Alternariosis skos:exactMatch DOID:9000401 Alternariosis semapv:ManualMappingCuration 2023-12-04 EFO:1001263 amniotic fluid embolism skos:exactMatch DOID:9006155 Amniotic Fluid Embolism semapv:ManualMappingCuration 2023-12-04 EFO:1001264 Anemia, Hemolytic, Autoimmune skos:exactMatch DOID:718 autoimmune hemolytic anemia semapv:ManualMappingCuration 2022-01-24 EFO:1001265 Aneurysm, False skos:exactMatch DOID:9005989 False Aneurysm semapv:ManualMappingCuration 2023-12-04 EFO:1001266 Aniseikonia skos:exactMatch DOID:0050304 aniseikonia semapv:ManualMappingCuration 2022-01-24 EFO:1001267 Aortic Coarctation skos:exactMatch DOID:9007908 Aortic Coarctation semapv:ManualMappingCuration 2023-12-04 EFO:1001268 Aortic Rupture skos:exactMatch DOID:9004080 Aortic Rupture semapv:ManualMappingCuration 2023-12-04 EFO:1001269 Arbovirus Infections skos:exactMatch DOID:9007579 Arbovirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001269 Arbovirus Infections skos:exactMatch DOID:934 viral infectious disease semapv:ManualMappingCuration 2022-01-24 EFO:1001270 Arterio-Arterial Fistula skos:exactMatch DOID:9003403 Arterio-Arterial Fistula semapv:ManualMappingCuration 2023-12-04 EFO:1001271 Atrophic Vaginitis skos:exactMatch DOID:11968 postmenopausal atrophic vaginitis semapv:ManualMappingCuration 2023-12-04 EFO:1001272 bacterial pneumonia skos:exactMatch DOID:874 bacterial pneumonia semapv:ManualMappingCuration 2022-01-24 EFO:1001274 Bone Anteversion skos:exactMatch DOID:9000114 Bone Anteversion semapv:ManualMappingCuration 2023-12-04 EFO:1001275 Bordetella Infections skos:exactMatch DOID:9007021 Bordetella Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001276 Brain Stem Hemorrhage, Traumatic skos:exactMatch DOID:9000694 Brain Stem Hemorrhage, Traumatic semapv:ManualMappingCuration 2023-12-04 EFO:1001277 Branchioma skos:exactMatch DOID:9005282 Branchioma semapv:ManualMappingCuration 2023-12-04 EFO:1001278 Brown-Pearce carcinoma skos:exactMatch DOID:9006869 Brown-Pearce Carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001279 Brown-Sequard Syndrome skos:exactMatch DOID:606 Brown-Sequard syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001280 Burkholderia Infections skos:exactMatch DOID:9000739 Burkholderia Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001282 Candidemia skos:exactMatch DOID:9008452 Candidemia semapv:ManualMappingCuration 2023-12-04 EFO:1001283 Candidiasis, Invasive skos:exactMatch DOID:9000522 Invasive Candidiasis semapv:ManualMappingCuration 2023-12-04 EFO:1001284 capillary leak syndrome skos:exactMatch DOID:14400 capillary leak syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001285 Cardiac Tamponade skos:exactMatch DOID:115 cardiac tamponade semapv:ManualMappingCuration 2022-01-24 EFO:1001286 Caroli Disease skos:exactMatch DOID:0050876 Caroli disease semapv:ManualMappingCuration 2022-01-24 EFO:1001287 Cestode Infections skos:exactMatch DOID:9006970 Cestode Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001288 Chlamydiaceae Infections skos:exactMatch DOID:9008090 Chlamydiaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001289 Cholecystitis, Acute skos:exactMatch DOID:9007393 Acute Cholecystitis semapv:ManualMappingCuration 2023-12-04 EFO:1001290 chorea gravidarum skos:exactMatch DOID:14483 chorea gravidarum semapv:ManualMappingCuration 2022-01-24 EFO:1001291 ciguatera poisoning skos:exactMatch DOID:9001470 Ciguatera Poisoning semapv:ManualMappingCuration 2023-12-04 EFO:1001292 Circoviridae Infections skos:exactMatch DOID:9008580 Circoviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001293 collagenous colitis skos:exactMatch DOID:0060183 collagenous colitis semapv:ManualMappingCuration 2022-01-24 EFO:1001294 lymphocytic colitis skos:exactMatch DOID:0060184 lymphocytic colitis semapv:ManualMappingCuration 2022-01-24 EFO:1001295 microscopic colitis skos:exactMatch DOID:0060182 microscopic colitis semapv:ManualMappingCuration 2022-01-24 EFO:1001296 colon diverticulum skos:exactMatch DOID:9006657 Colon Diverticulum semapv:ManualMappingCuration 2023-12-04 EFO:1001297 Coronary-Subclavian Steal Syndrome skos:exactMatch DOID:9002249 Coronary-Subclavian Steal Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001298 Coxa Vara skos:exactMatch DOID:9005226 Coxa Vara semapv:ManualMappingCuration 2023-12-04 EFO:1001299 Crush Syndrome skos:exactMatch DOID:9000921 Crush Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001300 Cryptogenic Organizing Pneumonia skos:exactMatch DOID:0050157 cryptogenic organizing pneumonia semapv:ManualMappingCuration 2022-01-24 EFO:1001301 Cubital Tunnel Syndrome skos:exactMatch DOID:9002629 Cubital Tunnel Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001302 Cytomegalovirus Retinitis skos:exactMatch DOID:0080160 cytomegalovirus retinitis semapv:ManualMappingCuration 2022-01-24 EFO:1001303 Deltaretrovirus Infections skos:exactMatch DOID:9001509 Deltaretrovirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001304 Dental enamel hypoplasia skos:exactMatch DOID:693 dental enamel hypoplasia semapv:ManualMappingCuration 2022-01-24 EFO:1001305 Dermatitis, Perioral skos:exactMatch DOID:9005617 Perioral Dermatitis semapv:ManualMappingCuration 2023-12-04 EFO:1001306 Diarrhea, Infantile skos:exactMatch DOID:9007847 Infantile Diarrhea semapv:ManualMappingCuration 2023-12-04 EFO:1001307 dumping syndrome skos:exactMatch DOID:14495 dumping syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001308 Embolism, Paradoxical skos:exactMatch DOID:9005568 Paradoxical Embolism semapv:ManualMappingCuration 2023-12-04 EFO:1001309 Encephalitis, Tick-Borne skos:exactMatch DOID:0050175 tick-borne encephalitis semapv:ManualMappingCuration 2022-01-24 EFO:1001310 Encephalitis, Varicella Zoster skos:exactMatch DOID:9002978 Varicella Zoster Encephalitis semapv:ManualMappingCuration 2023-12-04 EFO:1001311 End Stage Liver Disease skos:exactMatch DOID:9007996 End Stage Liver Disease semapv:ManualMappingCuration 2023-12-04 EFO:1001312 Endometritis skos:exactMatch DOID:1002 endometritis semapv:ManualMappingCuration 2022-01-24 EFO:1001313 Enterobacteriaceae Infections skos:exactMatch DOID:9003491 Enterobacteriaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001314 pseudomembranous enterocolitis skos:exactMatch DOID:0060185 Clostridium difficile colitis semapv:ManualMappingCuration 2023-12-04 EFO:1001315 Enzootic Bovine Leukosis skos:exactMatch DOID:9005637 Enzootic Bovine Leukosis semapv:ManualMappingCuration 2023-12-04 EFO:1001316 Eosinophilia-Myalgia Syndrome skos:exactMatch DOID:998 eosinophilia-myalgia syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001317 Epiphyses, Slipped skos:exactMatch DOID:9007203 Slipped Epiphyses semapv:ManualMappingCuration 2023-12-04 EFO:1001318 Escherichia coli Infections skos:exactMatch DOID:9002953 Escherichia Coli Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001319 Euglenozoa Infections skos:exactMatch DOID:9007293 Euglenozoa Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001320 Exanthema Subitum skos:exactMatch DOID:0050495 exanthema subitum semapv:ManualMappingCuration 2022-01-24 EFO:1001321 extrinsic allergic alveolitis skos:exactMatch DOID:841 extrinsic allergic alveolitis semapv:ManualMappingCuration 2022-01-24 EFO:1001322 eye foreign body skos:exactMatch DOID:9008361 Eye Foreign Bodies semapv:ManualMappingCuration 2023-12-04 EFO:1001323 Eye Injuries, Penetrating skos:exactMatch DOID:9002560 Penetrating Eye Injuries semapv:ManualMappingCuration 2023-12-04 EFO:1001324 Fascioliasis skos:exactMatch DOID:885 fascioliasis semapv:ManualMappingCuration 2022-01-24 EFO:1001325 abdominal fibromatosis skos:exactMatch DOID:9006031 Abdominal Fibromatosis semapv:ManualMappingCuration 2023-12-04 EFO:1001326 Flavivirus Infections skos:exactMatch DOID:9004146 Flavivirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001327 Flavobacteriaceae Infections skos:exactMatch DOID:9002050 Flavobacteriaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001328 fluoride poisoning skos:exactMatch DOID:9000392 Fluoride Poisoning semapv:ManualMappingCuration 2023-12-04 EFO:1001329 Follicular Cyst skos:exactMatch DOID:9006379 Follicular Cyst semapv:ManualMappingCuration 2023-12-04 EFO:1001330 Foster-Kennedy syndrome skos:exactMatch DOID:14555 Foster-Kennedy syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001331 Genital neoplasm, female skos:exactMatch DOID:120 female reproductive organ cancer semapv:ManualMappingCuration 2022-01-24 EFO:1001331 Genital neoplasm, female skos:exactMatch DOID:9007399 Female Genital Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001332 Giant Lymph Node Hyperplasia skos:exactMatch DOID:0111157 Castleman disease semapv:ManualMappingCuration 2023-12-04 EFO:1001333 Glycogen Storage Disease Type 2b skos:exactMatch DOID:0050437 Danon disease semapv:ManualMappingCuration 2022-01-24 EFO:1001335 Gynatresia skos:exactMatch DOID:429 gynatresia semapv:ManualMappingCuration 2022-01-24 EFO:1001336 Hammer Toe Syndrome skos:exactMatch DOID:9005398 Hammer Toe Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001337 Hand-Arm Vibration Syndrome skos:exactMatch DOID:9003649 Hand-Arm Vibration Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001339 Heart neoplasm skos:exactMatch DOID:9006547 Heart Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001340 Heat Stroke skos:exactMatch DOID:9004649 Heat Stroke semapv:ManualMappingCuration 2023-12-04 EFO:1001341 Heavy Chain Disease skos:exactMatch DOID:0060125 heavy chain disease semapv:ManualMappingCuration 2022-01-24 EFO:1001342 Helminthiasis skos:exactMatch DOID:883 parasitic helminthiasis infectious disease semapv:ManualMappingCuration 2022-01-24 EFO:1001343 Hemangioma, Cavernous, Central Nervous System skos:exactMatch DOID:0060669 cerebral cavernous malformation semapv:ManualMappingCuration 2023-12-04 EFO:1001344 Hemarthrosis skos:exactMatch DOID:801 hemarthrosis semapv:ManualMappingCuration 2022-01-24 EFO:1001345 Hepatitis, Alcoholic skos:exactMatch DOID:12351 alcoholic hepatitis semapv:ManualMappingCuration 2022-01-24 EFO:1001346 Hepatopulmonary Syndrome skos:exactMatch DOID:900 hepatopulmonary syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001347 Herpes Labialis skos:exactMatch DOID:9004202 Herpes Labialis semapv:ManualMappingCuration 2023-12-04 EFO:1001348 HIV-Associated Lipodystrophy Syndrome skos:exactMatch DOID:9008856 HIV-Associated Lipodystrophy Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001349 Human T-lymphotropic virus 2 infectious disease skos:exactMatch DOID:9003335 HTLV-II Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001350 Immunoblastic Lymphadenopathy skos:exactMatch DOID:9004253 Immunoblastic Lymphadenopathy semapv:ManualMappingCuration 2023-12-04 EFO:1001351 infectious arthritis skos:exactMatch DOID:813 septic arthritis semapv:ManualMappingCuration 2022-01-24 EFO:1001352 Kartagener Syndrome skos:exactMatch DOID:0050144 Kartagener syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001353 Klebsiella Infections skos:exactMatch DOID:9003828 Klebsiella Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001354 Kleine-Levin Syndrome skos:exactMatch DOID:0060165 Kleine-Levin syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001355 Laryngopharyngeal Reflux skos:exactMatch DOID:9003366 Laryngopharyngeal Reflux semapv:ManualMappingCuration 2023-12-04 EFO:1001356 Leiomyoma, Epithelioid skos:exactMatch DOID:9005549 Epithelioid Leiomyoma semapv:ManualMappingCuration 2023-12-04 EFO:1001357 Lentivirus Infections skos:exactMatch DOID:9005091 Lentivirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001358 Leprosy, Paucibacillary skos:exactMatch DOID:9001594 Paucibacillary Leprosy semapv:ManualMappingCuration 2023-12-04 EFO:1001359 Leukocyte-Adhesion Deficiency Syndrome skos:exactMatch DOID:6612 leukocyte adhesion deficiency semapv:ManualMappingCuration 2023-12-04 EFO:1001360 Leukoplakia, Hairy skos:exactMatch DOID:0060315 oral hairy leukoplakia semapv:ManualMappingCuration 2023-12-04 EFO:1001361 localised scleroderma skos:exactMatch DOID:419 scleroderma semapv:ManualMappingCuration 2022-01-24 EFO:1001361 localised scleroderma skos:exactMatch DOID:8472 localized scleroderma semapv:ManualMappingCuration 2022-01-24 EFO:1001362 Lung Abscess skos:exactMatch DOID:0060317 lung abscess semapv:ManualMappingCuration 2022-01-24 EFO:1001362 Lung Abscess skos:exactMatch DOID:850 lung disease semapv:ManualMappingCuration 2022-01-24 EFO:1001363 Lupus Vasculitis, Central Nervous System skos:exactMatch DOID:9005125 Lupus Vasculitis, Central Nervous System semapv:ManualMappingCuration 2023-12-04 EFO:1001364 Lymphatic Metastasis skos:exactMatch DOID:9000081 Lymphatic Metastasis semapv:ManualMappingCuration 2023-12-04 EFO:1001365 Lymphoma, AIDS-Related skos:exactMatch DOID:9000242 Lymphoma, AIDS-Related semapv:ManualMappingCuration 2023-12-04 EFO:1001366 mastodynia skos:exactMatch DOID:9008722 Mastodynia semapv:ManualMappingCuration 2023-12-04 EFO:1001367 Medial Tibial Stress Syndrome skos:exactMatch DOID:9007731 Medial Tibial Stress Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001368 Mediastinal Cyst skos:exactMatch DOID:9002759 Mediastinal Cysts semapv:ManualMappingCuration 2023-12-04 EFO:1001369 Meningomyelocele skos:exactMatch DOID:0060326 myelomeningocele semapv:ManualMappingCuration 2023-12-04 EFO:1001370 metatarsalgia skos:exactMatch DOID:9008541 Metatarsalgia semapv:ManualMappingCuration 2023-12-04 EFO:1001371 Mixed Tumor, Mesodermal skos:exactMatch DOID:9001796 Mesodermal Mixed Tumor semapv:ManualMappingCuration 2023-12-04 EFO:1001372 Monieziasis skos:exactMatch DOID:931 monieziasis semapv:ManualMappingCuration 2022-01-24 EFO:1001373 Multiple Organ Failure skos:exactMatch DOID:9002906 Multiple Organ Failure semapv:ManualMappingCuration 2023-12-04 EFO:1001374 Mycoplasmatales Infections skos:exactMatch DOID:9008587 Mycoplasmatales Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001375 Myocardial Ischemia skos:exactMatch DOID:9007102 Myocardial Ischemia semapv:ManualMappingCuration 2023-12-04 EFO:1001376 Necrobiotic Xanthogranuloma skos:exactMatch DOID:9007969 Necrobiotic Xanthogranuloma semapv:ManualMappingCuration 2023-12-04 EFO:1001377 Neisseriaceae Infections skos:exactMatch DOID:9008538 Neisseriaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001378 neurogenic arthropathy skos:exactMatch DOID:14286 neurogenic arthropathy semapv:ManualMappingCuration 2022-01-24 EFO:1001379 neuroleptic malignant syndrome skos:exactMatch DOID:14464 neuroleptic malignant syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001380 Niemann-Pick disease skos:exactMatch DOID:14504 Niemann-Pick disease semapv:ManualMappingCuration 2022-01-24 EFO:1001381 Nocturnal Paroxysmal Dystonia skos:exactMatch DOID:9005450 Nocturnal Paroxysmal Dystonia semapv:ManualMappingCuration 2023-12-04 EFO:1001382 Obesity Hypoventilation Syndrome skos:exactMatch DOID:9004753 Obesity Hypoventilation Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001383 Opsoclonus-Myoclonus Syndrome skos:exactMatch DOID:9001087 Opsoclonus-Myoclonus Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001384 Panniculitis, Peritoneal skos:exactMatch DOID:9006800 Peritoneal Panniculitis semapv:ManualMappingCuration 2023-12-04 EFO:1001385 Paralysis, Obstetric skos:exactMatch DOID:9008929 Obstetric Paralysis semapv:ManualMappingCuration 2023-12-04 EFO:1001386 Pasteurellaceae Infections skos:exactMatch DOID:9008746 Pasteurellaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001387 Peliosis Hepatis skos:exactMatch DOID:914 peliosis hepatis semapv:ManualMappingCuration 2022-01-24 EFO:1001388 Pelvic Inflammatory Disease skos:exactMatch DOID:1003 pelvic inflammatory disease semapv:ManualMappingCuration 2022-01-24 EFO:1001389 Peptic ulcer perforation skos:exactMatch DOID:752 peptic ulcer perforation semapv:ManualMappingCuration 2022-01-24 EFO:1001390 Peri-Implantitis skos:exactMatch DOID:9003969 Peri-Implantitis semapv:ManualMappingCuration 2023-12-04 EFO:1001391 Periapical Periodontitis skos:exactMatch DOID:823 periapical periodontitis semapv:ManualMappingCuration 2022-01-24 EFO:1001392 Perimeningeal Infections skos:exactMatch DOID:9006960 Perimeningeal Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001393 Periodontal Pocket skos:exactMatch DOID:9001352 Periodontal Pocket semapv:ManualMappingCuration 2023-12-04 EFO:1001394 Peritoneal Fibrosis skos:exactMatch DOID:9002488 Peritoneal Fibrosis semapv:ManualMappingCuration 2023-12-04 EFO:1001395 Phlebitis skos:exactMatch DOID:864 phlebitis semapv:ManualMappingCuration 2022-01-24 EFO:1001396 Pinta skos:exactMatch DOID:1022 pinta disease semapv:ManualMappingCuration 2022-01-24 EFO:1001397 Piscirickettsiaceae Infections skos:exactMatch DOID:9006409 Piscirickettsiaceae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001398 Pneumocephalus skos:exactMatch DOID:9002018 Pneumocephalus semapv:ManualMappingCuration 2023-12-04 EFO:1001399 Pneumonia, Aspiration skos:exactMatch DOID:3240 aspiration pneumonitis semapv:ManualMappingCuration 2022-01-24 EFO:1001400 Pneumopericardium skos:exactMatch DOID:9007273 Pneumopericardium semapv:ManualMappingCuration 2023-12-04 EFO:1001401 Pneumovirus Infections skos:exactMatch DOID:9001953 Pneumovirus Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001402 postencephalitic Parkinson disease skos:exactMatch DOID:14332 postencephalitic Parkinson disease semapv:ManualMappingCuration 2022-01-24 EFO:1001403 postpartum thyroiditis skos:exactMatch DOID:9008005 Postpartum Thyroiditis semapv:ManualMappingCuration 2023-12-04 EFO:1001404 Postpericardiotomy Syndrome skos:exactMatch DOID:9007295 Postpericardiotomy Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001406 Prosthesis-Related Infections skos:exactMatch DOID:9006516 Prosthesis-Related Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001407 Puerperal Infection skos:exactMatch DOID:9008718 Puerperal Infection semapv:ManualMappingCuration 2023-12-04 EFO:1001408 Pulmonary Infarction skos:exactMatch DOID:8516 pulmonary embolism and infarction semapv:ManualMappingCuration 2023-12-04 EFO:1001409 Pyomyositis skos:exactMatch DOID:876 pyomyositis semapv:ManualMappingCuration 2022-01-24 EFO:1001410 Pythiosis skos:exactMatch DOID:9004704 Pythiosis semapv:ManualMappingCuration 2023-12-04 EFO:1001411 Radiation Pneumonitis skos:exactMatch DOID:9008604 Radiation Pneumonitis semapv:ManualMappingCuration 2023-12-04 EFO:1001412 renal colic skos:exactMatch DOID:9002274 Renal Colic semapv:ManualMappingCuration 2023-12-04 EFO:1001413 Respiratory Syncytial Virus Infection skos:exactMatch DOID:1273 respiratory syncytial virus infectious disease semapv:ManualMappingCuration 2022-01-24 EFO:1001414 Retrobulbar Hemorrhage skos:exactMatch DOID:9008220 Retrobulbar Hemorrhage semapv:ManualMappingCuration 2023-12-04 EFO:1001415 Retropharyngeal Abscess skos:exactMatch DOID:9006536 Retropharyngeal Abscess semapv:ManualMappingCuration 2023-12-04 EFO:1001416 rheumatic fever nodule skos:exactMatch DOID:9007176 Rheumatic Nodule semapv:ManualMappingCuration 2023-12-04 EFO:1001417 Rhinitis, Allergic, Perennial skos:exactMatch DOID:9003657 Perennial Allergic Rhinitis semapv:ManualMappingCuration 2023-12-04 EFO:1001418 Salmonella Infections skos:exactMatch DOID:0060859 salmonellosis semapv:ManualMappingCuration 2023-12-04 EFO:1001419 Schistosomiasis japonica skos:exactMatch DOID:0050597 intestinal schistosomiasis semapv:ManualMappingCuration 2022-01-24 EFO:1001419 Schistosomiasis japonica skos:exactMatch DOID:9002433 Schistosomiasis Japonica semapv:ManualMappingCuration 2023-12-04 EFO:1001420 Schistosomiasis mansoni skos:exactMatch DOID:9002869 Schistosomiasis Mansoni semapv:ManualMappingCuration 2023-12-04 EFO:1001421 Serratia Infections skos:exactMatch DOID:9004601 Serratia Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001422 Sertoli Cell-Only Syndrome skos:exactMatch DOID:0050457 Sertoli cell-only syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001423 Shaken Baby Syndrome skos:exactMatch DOID:9007358 Shaken Baby Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001424 skin epithelioid hemangioma skos:exactMatch DOID:14308 skin epithelioid hemangioma semapv:ManualMappingCuration 2022-01-24 EFO:1001425 Skull Fractures skos:exactMatch DOID:9002209 Skull Fractures semapv:ManualMappingCuration 2023-12-04 EFO:1001426 Spinal Cord Ischemia skos:exactMatch DOID:9004922 Spinal Cord Ischemia semapv:ManualMappingCuration 2023-12-04 EFO:1001428 Subacute Combined Degeneration skos:exactMatch DOID:9007110 Subacute Combined Degeneration semapv:ManualMappingCuration 2023-12-04 EFO:1001429 Subdural Effusion skos:exactMatch DOID:9001777 Subdural Effusion semapv:ManualMappingCuration 2023-12-04 EFO:1001430 Sublingual Gland Neoplasms skos:exactMatch DOID:9008271 Sublingual Gland Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001431 suppurative thyroiditis skos:exactMatch DOID:14350 suppurative thyroiditis semapv:ManualMappingCuration 2022-01-24 EFO:1001432 Tachycardia, Reciprocating skos:exactMatch DOID:9007178 Reciprocating Tachycardia semapv:ManualMappingCuration 2023-12-04 EFO:1001433 Taeniasis skos:exactMatch DOID:0050596 taeniasis semapv:ManualMappingCuration 2022-01-24 EFO:1001434 Tendinopathy skos:exactMatch DOID:971 tendinitis semapv:ManualMappingCuration 2022-01-24 EFO:1001435 tenosynovitis skos:exactMatch DOID:970 tenosynovitis semapv:ManualMappingCuration 2022-01-24 EFO:1001436 thyroid nodule skos:exactMatch DOID:9005809 Thyroid Nodule semapv:ManualMappingCuration 2023-12-04 EFO:1001437 Tracheal neoplasm skos:relatedMatch DOID:9003134 tracheal neoplasm semapv:ManualMappingCuration 2023-12-04 EFO:1001438 Trematode Infections skos:exactMatch DOID:884 metagonimiasis semapv:ManualMappingCuration 2022-01-24 EFO:1001438 Trematode Infections skos:exactMatch DOID:9004459 Trematode Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001439 Trilogy of Fallot skos:exactMatch DOID:9006477 Trilogy of Fallot semapv:ManualMappingCuration 2023-12-04 EFO:1001440 Tuberculosis, Avian skos:exactMatch DOID:9000759 Avian Tuberculosis semapv:ManualMappingCuration 2023-12-04 EFO:1001441 Tuberculosis, Bovine skos:exactMatch DOID:9001011 Bovine Tuberculosis semapv:ManualMappingCuration 2023-12-04 EFO:1001442 cardiac tuberculosis skos:exactMatch DOID:0060570 cardiac tuberculosis semapv:ManualMappingCuration 2022-01-24 EFO:1001443 Tuberculosis, Cutaneous skos:exactMatch DOID:9005437 Cutaneous Tuberculosis semapv:ManualMappingCuration 2023-12-04 EFO:1001444 Tularemia skos:exactMatch DOID:2123 tularemia semapv:ManualMappingCuration 2022-01-24 EFO:1001445 Tungiasis skos:exactMatch DOID:0050266 tungiasis semapv:ManualMappingCuration 2022-01-24 EFO:1001446 Uterine Inversion skos:exactMatch DOID:997 uterine inversion semapv:ManualMappingCuration 2022-01-24 EFO:1001447 Vaginal neoplasm skos:exactMatch DOID:9006698 Vaginal Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001448 Ventricular Outflow Obstruction skos:exactMatch DOID:9004319 Ventricular Outflow Obstruction semapv:ManualMappingCuration 2023-12-04 EFO:1001449 Vertebrobasilar insufficiency skos:exactMatch DOID:13003 vertebrobasilar insufficiency semapv:ManualMappingCuration 2022-01-24 EFO:1001449 Vertebrobasilar insufficiency skos:exactMatch DOID:223 basilar artery insufficiency semapv:ManualMappingCuration 2022-01-24 EFO:1001450 Wolff-Parkinson-White Syndrome skos:exactMatch DOID:384 Wolff-Parkinson-White syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001451 X-Linked Combined Immunodeficiency Diseases skos:exactMatch DOID:0060013 X-linked severe combined immunodeficiency semapv:ManualMappingCuration 2023-12-04 EFO:1001452 Yellow Nail Syndrome skos:exactMatch DOID:0050468 yellow nail syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001453 Zoster Sine Herpete skos:exactMatch DOID:9001709 Zoster Sine Herpete semapv:ManualMappingCuration 2023-12-04 EFO:1001454 amnesia skos:exactMatch DOID:10914 amnestic disorder semapv:ManualMappingCuration 2023-12-04 EFO:1001455 auditory system disease skos:exactMatch DOID:2742 auditory system disease semapv:ManualMappingCuration 2022-01-24 EFO:1001456 central nervous system infection skos:exactMatch DOID:9000025 Central Nervous System Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001458 diabetic cardiomyopathy skos:exactMatch DOID:9006945 Diabetic Cardiomyopathies semapv:ManualMappingCuration 2023-12-04 EFO:1001459 diabetic foot skos:exactMatch DOID:9008212 Diabetic Foot semapv:ManualMappingCuration 2023-12-04 EFO:1001462 erysipelas skos:exactMatch DOID:11330 erysipelas semapv:ManualMappingCuration 2022-01-24 EFO:1001463 gastroenteritis skos:exactMatch DOID:2326 gastroenteritis semapv:ManualMappingCuration 2022-01-24 EFO:1001465 gliosarcoma skos:exactMatch DOID:3071 gliosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1001467 Hypereosinophilic syndrome skos:exactMatch DOID:999 hypereosinophilic syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001469 Mantle cell lymphoma skos:exactMatch DOID:0050746 mantle cell lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:1001471 Merkel cell skin cancer skos:exactMatch DOID:3965 Merkel cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001472 Myelitis skos:exactMatch DOID:322 myelitis semapv:ManualMappingCuration 2022-01-24 EFO:1001473 Non-familial restrictive cardiomyopathy skos:exactMatch DOID:397 restrictive cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:1001474 pneumococcal pneumonia skos:exactMatch DOID:9002106 Pneumococcal Pneumonia semapv:ManualMappingCuration 2023-12-04 EFO:1001475 schistosomiasis skos:exactMatch DOID:1395 schistosomiasis semapv:ManualMappingCuration 2022-01-24 EFO:1001477 Systemic capillary leak syndrome skos:exactMatch DOID:14400 capillary leak syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001478 systemic inflammatory response syndrome skos:exactMatch DOID:9000169 Systemic Inflammatory Response Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001479 Tumor Lysis Syndrome skos:exactMatch DOID:9003827 Tumor Lysis Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001481 enterocolitis skos:exactMatch DOID:9002805 Enterocolitis semapv:ManualMappingCuration 2023-12-04 EFO:1001482 cardiotoxicity skos:exactMatch DOID:9002371 Cardiotoxicity semapv:ManualMappingCuration 2023-12-04 EFO:1001483 non-obstructive coronary artery disease skos:exactMatch DOID:0080938 nonobstructive coronary artery disease semapv:ManualMappingCuration 2023-12-04 EFO:1001484 pain agnosia skos:exactMatch DOID:0060145 pain agnosia semapv:ManualMappingCuration 2022-01-24 EFO:1001485 acromegaly skos:exactMatch DOID:2449 acromegaly semapv:ManualMappingCuration 2022-01-24 EFO:1001486 primary biliary cirrhosis skos:exactMatch DOID:12236 primary biliary cholangitis semapv:ManualMappingCuration 2022-01-24 EFO:1001487 secondary biliary cirrhosis skos:exactMatch DOID:12236 primary biliary cholangitis semapv:ManualMappingCuration 2023-12-04 EFO:1001489 skin and soft tissue Staphylococcus aureus infection skos:exactMatch DOID:9008885 Staphylococcal Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001490 late-onset myasthenia gravis skos:exactMatch DOID:437 myasthenia gravis semapv:ManualMappingCuration 2023-12-04 EFO:1001491 abortion skos:exactMatch DOID:9003281 Spontaneous Abortions semapv:ManualMappingCuration 2023-12-04 EFO:1001492 atrophic macular degeneration skos:exactMatch DOID:9001427 Geographic Atrophy semapv:ManualMappingCuration 2023-12-04 EFO:1001495 small artery occlusion skos:exactMatch DOID:9007434 small artery occlusion semapv:ManualMappingCuration 2023-12-04 EFO:1001496 Autosomal dominant polycystic kidney disease skos:exactMatch DOID:898 autosomal dominant polycystic kidney disease semapv:ManualMappingCuration 2022-01-24 EFO:1001497 cardiac conduction defect skos:exactMatch DOID:9001836 Cardiac Conduction Defect semapv:ManualMappingCuration 2023-12-04 EFO:1001498 disseminated atypical mycobacterial infection skos:exactMatch DOID:9004729 Nontuberculous Mycobacterium Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001499 histiocytic medullary reticulosis skos:exactMatch DOID:0080915 histiocytic sarcoma semapv:ManualMappingCuration 2023-12-04 EFO:1001500 intellectual disability with language impairment skos:exactMatch DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 skos:exactMatch DOID:9005221 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 semapv:ManualMappingCuration 2023-12-04 EFO:1001502 rasopathy skos:exactMatch DOID:0080690 RASopathy semapv:ManualMappingCuration 2023-03-17 EFO:1001503 type II diabetes mellitus with acanthosis nigricans skos:exactMatch DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans semapv:ManualMappingCuration 2023-12-04 EFO:1001504 small vessel stroke skos:exactMatch DOID:9007096 Stroke semapv:ManualMappingCuration 2023-12-04 EFO:1001505 cystic liver disease skos:exactMatch DOID:0050770 polycystic liver disease semapv:ManualMappingCuration 2023-12-04 EFO:1001506 primary angle closure glaucoma skos:exactMatch DOID:1405 primary angle-closure glaucoma semapv:ManualMappingCuration 2022-01-24 EFO:1001507 asparaginase-induced acute pancreatitis skos:exactMatch DOID:2913 acute pancreatitis semapv:ManualMappingCuration 2023-12-04 EFO:1001510 specific language impairment skos:exactMatch DOID:0060244 specific language impairment semapv:ManualMappingCuration 2022-01-24 EFO:1001511 monogenic diabetes skos:exactMatch DOID:9351 diabetes mellitus semapv:ManualMappingCuration 2023-12-04 EFO:1001512 endometrial carcinoma skos:exactMatch DOID:2871 endometrial carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001513 liver neoplasm skos:exactMatch DOID:9007188 Liver Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001513 liver neoplasm skos:exactMatch DOID:916 liver benign neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1001514 endometrial endometrioid carcinoma skos:exactMatch DOID:2870 endometrial adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001515 ovarian endometrioid carcinoma skos:exactMatch DOID:5828 endometrioid ovary carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001516 ovarian serous carcinoma skos:exactMatch DOID:0050933 ovarian serous carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001517 renal fibrosis skos:exactMatch DOID:0050855 renal fibrosis semapv:ManualMappingCuration 2022-01-24 EFO:1001518 heavy metal poisoning skos:exactMatch DOID:9000659 Heavy Metal Toxicity semapv:ManualMappingCuration 2023-12-04 EFO:1001753 abdominal abscess skos:exactMatch DOID:9008115 Abdominal Abscess semapv:ManualMappingCuration 2023-12-04 EFO:1001754 Abruptio Placentae skos:exactMatch DOID:9667 placental abruption semapv:ManualMappingCuration 2022-01-24 EFO:1001755 accelerated phase myeloid leukemia skos:exactMatch DOID:9001865 Myeloid Leukemia, Accelerated Phase semapv:ManualMappingCuration 2023-12-04 EFO:1001756 Acrodynia skos:exactMatch DOID:9004742 Acrodynia semapv:ManualMappingCuration 2023-12-04 EFO:1001757 Adenomyosis skos:exactMatch DOID:288 endometriosis of uterus semapv:ManualMappingCuration 2023-12-04 EFO:1001758 ageusia skos:exactMatch DOID:9006039 Ageusia semapv:ManualMappingCuration 2023-12-04 EFO:1001759 alcohol amnestic disorder skos:exactMatch DOID:9008602 Alcohol Amnestic Disorder semapv:ManualMappingCuration 2023-12-04 EFO:1001760 aneurysmal bone cyst skos:exactMatch DOID:9005719 Aneurysmal Bone Cysts semapv:ManualMappingCuration 2023-12-04 EFO:1001761 Angiofibroma skos:exactMatch DOID:9000915 Angiofibroma semapv:ManualMappingCuration 2023-12-04 EFO:1001762 autonomic dysreflexia skos:exactMatch DOID:9001461 Autonomic Dysreflexia semapv:ManualMappingCuration 2023-12-04 EFO:1001763 basal cell neoplasm skos:exactMatch DOID:9003929 Basal Cell Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001764 Birnaviridae Infections skos:exactMatch DOID:9006589 Birnaviridae Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001765 Bovine mastitis skos:exactMatch DOID:9008258 Bovine Mastitis semapv:ManualMappingCuration 2023-12-04 EFO:1001766 brain hypoxia skos:exactMatch DOID:9004756 Brain Hypoxia semapv:ManualMappingCuration 2023-12-04 EFO:1001767 brain stem neoplasm skos:exactMatch DOID:9002777 Brain Stem Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001768 cadmium poisoning skos:exactMatch DOID:9001191 Cadmium Poisoning semapv:ManualMappingCuration 2023-12-04 EFO:1001769 carcinoid heart disease skos:exactMatch DOID:9005906 Carcinoid Heart Disease semapv:ManualMappingCuration 2023-12-04 EFO:1001770 Carcinoma, Lewis Lung skos:exactMatch DOID:9003690 Carcinoma, Lewis Lung semapv:ManualMappingCuration 2023-12-04 EFO:1001771 cardiac edema skos:exactMatch DOID:9002860 Cardiac Edema semapv:ManualMappingCuration 2023-12-04 EFO:1001772 Central Cord Syndrome skos:exactMatch DOID:9001711 Central Cord Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001773 Central Nervous System Helminthiasis skos:exactMatch DOID:9000928 Central Nervous System Helminthiasis semapv:ManualMappingCuration 2023-12-04 EFO:1001774 central nervous system venous angioma skos:exactMatch DOID:9006290 Central Nervous System Venous Angioma semapv:ManualMappingCuration 2023-12-04 EFO:1001775 cerebrospinal fluid otorrhea skos:exactMatch DOID:9004660 Cerebrospinal Fluid Otorrhea semapv:ManualMappingCuration 2023-12-04 EFO:1001776 Chilaiditi Syndrome skos:exactMatch DOID:9006499 Chilaiditi Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001777 chloracne skos:exactMatch DOID:9001341 Chloracne semapv:ManualMappingCuration 2023-12-04 EFO:1001778 chromosome-defective micronuclei skos:exactMatch DOID:9006676 Micronuclei, Chromosome-Defective semapv:ManualMappingCuration 2023-12-04 EFO:1001779 chronic myelomonocytic leukemia skos:exactMatch DOID:0080188 chronic myelomonocytic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:1001780 Chylothorax skos:exactMatch DOID:9007840 Chylothorax semapv:ManualMappingCuration 2023-12-04 EFO:1001781 Commotio Cordis skos:exactMatch DOID:9001823 Commotio Cordis semapv:ManualMappingCuration 2023-12-04 EFO:1001782 dental pulp exposure skos:exactMatch DOID:9000930 Dental Pulp Exposure semapv:ManualMappingCuration 2023-12-04 EFO:1001783 desmoplastic fibroma skos:exactMatch DOID:9004141 Desmoplastic Fibroma semapv:ManualMappingCuration 2023-12-04 EFO:1001784 diffuse cutaneous Leishmaniasis skos:exactMatch DOID:9003868 Diffuse Cutaneous Leishmaniasis semapv:ManualMappingCuration 2023-12-04 EFO:1001785 diffuse esophageal spasm skos:exactMatch DOID:9007276 Diffuse Esophageal Spasm semapv:ManualMappingCuration 2023-12-04 EFO:1001786 erythroplasia skos:exactMatch DOID:9007394 Erythroplasia semapv:ManualMappingCuration 2023-12-04 EFO:1001787 experimental arthritis skos:exactMatch DOID:9002457 Experimental Arthritis semapv:ManualMappingCuration 2023-12-04 EFO:1001788 Eye Burns skos:exactMatch DOID:9000173 Eye Burns semapv:ManualMappingCuration 2023-12-04 EFO:1001789 familial apolipoprotein B hypobetalipoproteinemia skos:exactMatch DOID:9002123 Familial Hypobetalipoproteinemia, Apolipoprotein B semapv:ManualMappingCuration 2023-12-04 EFO:1001790 female athlete triad syndrome skos:exactMatch DOID:9008759 Female Athlete Triad Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001791 femoral hernia skos:exactMatch DOID:9004455 Femoral Hernia semapv:ManualMappingCuration 2023-12-04 EFO:1001792 femoral neck fracture skos:exactMatch DOID:9001417 Femoral Neck Fractures semapv:ManualMappingCuration 2023-12-04 EFO:1001793 fetal hypoxia skos:exactMatch DOID:9007877 Fetal Hypoxia semapv:ManualMappingCuration 2023-12-04 EFO:1001794 fetomaternal transfusion skos:exactMatch DOID:9007354 Fetomaternal Transfusion semapv:ManualMappingCuration 2023-12-04 EFO:1001795 fusariosis skos:exactMatch DOID:0050289 fusariosis semapv:ManualMappingCuration 2022-01-24 EFO:1001796 Glomus Jugulare Tumor skos:exactMatch DOID:9002449 Glomus Jugulare Tumor semapv:ManualMappingCuration 2023-12-04 EFO:1001797 Hemoglobin SC Disease skos:exactMatch DOID:9006672 Hemoglobin SC Disease semapv:ManualMappingCuration 2023-12-04 EFO:1001798 immunoproliferative small intestinal disease skos:exactMatch DOID:0060126 alpha chain disease semapv:ManualMappingCuration 2023-12-04 EFO:1001799 incomplete abortion skos:exactMatch DOID:9007547 Incomplete Abortion semapv:ManualMappingCuration 2023-12-04 EFO:1001800 Intervertebral Disc Displacement skos:exactMatch DOID:9006086 Intervertebral Disc Displacement semapv:ManualMappingCuration 2023-12-04 EFO:1001801 intracranial subdural hematoma skos:exactMatch DOID:9003292 Intracranial Subdural Hematoma semapv:ManualMappingCuration 2023-12-04 EFO:1001802 isolated noncompaction of the ventricular myocardium skos:exactMatch DOID:9000596 Isolated Noncompaction of the Ventricular Myocardium semapv:ManualMappingCuration 2023-12-04 EFO:1001803 lingual thyroid skos:exactMatch DOID:9000704 Lingual Thyroids semapv:ManualMappingCuration 2023-12-04 EFO:1001804 Livedo reticularis skos:exactMatch DOID:9001467 Livedo Reticularis semapv:ManualMappingCuration 2023-12-04 EFO:1001805 lobomycosis skos:exactMatch DOID:13026 lobomycosis semapv:ManualMappingCuration 2022-01-24 EFO:1001806 macrophage activation syndrome skos:exactMatch DOID:9002798 Macrophage Activation Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001807 malacoplakia skos:exactMatch DOID:9004625 Malacoplakia semapv:ManualMappingCuration 2023-12-04 EFO:1001808 manganese poisoning skos:exactMatch DOID:9000304 Manganese Poisoning semapv:ManualMappingCuration 2023-12-04 EFO:1001809 Marchiafava-Bignami Disease skos:exactMatch DOID:9003718 Marchiafava-Bignami Disease semapv:ManualMappingCuration 2023-12-04 EFO:1001810 mercury poisoning skos:exactMatch DOID:9003709 Mercury Poisoning semapv:ManualMappingCuration 2023-12-04 EFO:1001811 Monteggia's fracture skos:exactMatch DOID:9004580 Monteggia's Fracture semapv:ManualMappingCuration 2023-12-04 EFO:1001812 myringosclerosis skos:exactMatch DOID:1214 tympanosclerosis semapv:ManualMappingCuration 2023-12-04 EFO:1001813 Nasal Septal Perforation skos:exactMatch DOID:9005431 Nasal Septal Perforation semapv:ManualMappingCuration 2023-12-04 EFO:1001814 nephrogenic fibrosing dermopathy skos:exactMatch DOID:9007889 Nephrogenic Fibrosing Dermopathy semapv:ManualMappingCuration 2023-12-04 EFO:1001815 nervous system heavy metal poisoning skos:exactMatch DOID:9001363 Heavy Metal Poisoning, Nervous System semapv:ManualMappingCuration 2023-12-04 EFO:1001816 neutropenic enterocolitis skos:exactMatch DOID:9002503 Neutropenic Enterocolitis semapv:ManualMappingCuration 2023-12-04 EFO:1001817 ocular posterior capsular rupture skos:exactMatch DOID:9008947 Posterior Capsular Rupture, Ocular semapv:ManualMappingCuration 2023-12-04 EFO:1001818 oral submucous fibrosis skos:exactMatch DOID:5773 oral submucous fibrosis semapv:ManualMappingCuration 2022-01-24 EFO:1001819 orbital myositis skos:exactMatch DOID:9002988 Orbital Myositis semapv:ManualMappingCuration 2023-12-04 EFO:1001820 oroficial granulomatosis skos:exactMatch DOID:9000125 Orofacial Granulomatosis semapv:ManualMappingCuration 2023-12-04 EFO:1001821 osteoradionecrosis skos:exactMatch DOID:9008321 Osteoradionecrosis semapv:ManualMappingCuration 2023-12-04 EFO:1001822 Paroxysmal Hemicrania skos:exactMatch DOID:9002176 Paroxysmal Hemicrania semapv:ManualMappingCuration 2023-12-04 EFO:1001823 Periprosthetic Fractures skos:exactMatch DOID:9003427 Periprosthetic Fractures semapv:ManualMappingCuration 2023-12-04 EFO:1001824 pinguecula skos:exactMatch DOID:11029 pinguecula semapv:ManualMappingCuration 2022-01-24 EFO:1001825 pleurisy skos:exactMatch DOID:10247 pleurisy semapv:ManualMappingCuration 2022-01-24 EFO:1001826 Poroma skos:exactMatch DOID:9003527 Poroma semapv:ManualMappingCuration 2023-12-04 EFO:1001827 post-concussion syndrome skos:exactMatch DOID:9008219 Post-Concussion Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001828 post-exercise hypotension skos:exactMatch DOID:9004717 Post-Exercise Hypotension semapv:ManualMappingCuration 2023-12-04 EFO:1001829 Posterior Leukoencephalopathy Syndrome skos:exactMatch DOID:9001074 Posterior Leukoencephalopathy Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001830 precursor T-cell lymphoblastic leukemia-lymphoma skos:exactMatch DOID:5603 T-cell acute lymphoblastic leukemia semapv:ManualMappingCuration 2023-12-04 EFO:1001831 pseudolymphoma skos:exactMatch DOID:9005797 Pseudolymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1001832 Psoas abscess skos:exactMatch DOID:9002880 Psoas Abscess semapv:ManualMappingCuration 2023-12-04 EFO:1001833 Pubic Symphysis Diastasis skos:exactMatch DOID:9001687 Pubic Symphysis Diastasis semapv:ManualMappingCuration 2023-12-04 EFO:1001834 pulmonary aspergillosis skos:exactMatch DOID:0050153 pulmonary aspergilloma semapv:ManualMappingCuration 2022-01-24 EFO:1001835 pyelocystitis skos:exactMatch DOID:9007999 Pyelocystitis semapv:ManualMappingCuration 2023-12-04 EFO:1001836 pyogenic liver abscess skos:exactMatch DOID:9004142 Pyogenic Liver Abscesses semapv:ManualMappingCuration 2023-12-04 EFO:1001837 rectocele skos:exactMatch DOID:9008151 Rectocele semapv:ManualMappingCuration 2023-12-04 EFO:1001838 renal nutcracker syndrome skos:exactMatch DOID:9007228 Renal Nutcracker Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001839 respiratory aspiration skos:exactMatch DOID:9001264 Respiratory Aspiration semapv:ManualMappingCuration 2023-12-04 EFO:1001840 respiratory paralysis skos:exactMatch DOID:9000292 Respiratory Paralysis semapv:ManualMappingCuration 2023-12-04 EFO:1001841 sebaceous of Jadassohn nevus skos:exactMatch DOID:0111530 linear nevus sebaceous syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001842 Serotonin Syndrome skos:exactMatch DOID:9002607 Serotonin Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001843 sinoatrial nodal reentry tachycardia skos:exactMatch DOID:9004944 Tachycardia, Sinoatrial Nodal Reentry semapv:ManualMappingCuration 2023-12-04 EFO:1001844 skin mastocytoma skos:exactMatch DOID:3666 solitary mastocytoma of the skin semapv:ManualMappingCuration 2022-01-24 EFO:1001845 spinal cord compression skos:exactMatch DOID:9001553 Spinal Cord Compression semapv:ManualMappingCuration 2023-12-04 EFO:1001846 Spinal Osteophytosis skos:exactMatch DOID:9003439 Spinal Osteophytosis semapv:ManualMappingCuration 2023-12-04 EFO:1001847 spinal subdural hematoma skos:exactMatch DOID:9005866 Spinal Subdural Hematoma semapv:ManualMappingCuration 2023-12-04 EFO:1001848 squamous odontogenic tumor skos:exactMatch DOID:9004613 Squamous Odontogenic Tumor semapv:ManualMappingCuration 2023-12-04 EFO:1001849 staphylococcal skin infections skos:exactMatch DOID:9005966 Staphylococcal Skin Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001850 stomach diverticulum skos:exactMatch DOID:9007206 Stomach Diverticulum semapv:ManualMappingCuration 2023-12-04 EFO:1001851 stomach rupture skos:exactMatch DOID:9004275 Stomach Rupture semapv:ManualMappingCuration 2023-12-04 EFO:1001852 Stomach Volvulus skos:exactMatch DOID:9005142 Stomach Volvulus semapv:ManualMappingCuration 2023-12-04 EFO:1001853 submandibular gland neoplasm skos:exactMatch DOID:9008501 Submandibular Gland Neoplasms semapv:ManualMappingCuration 2023-12-04 EFO:1001854 subphrenic abscess skos:exactMatch DOID:9007378 Subphrenic Abscess semapv:ManualMappingCuration 2023-12-04 EFO:1001855 Superior Vena Cava Syndrome skos:exactMatch DOID:9000139 Superior Vena Cava Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001856 Susac Syndrome skos:exactMatch DOID:9004457 Susac Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001857 Takayasu arteritis skos:exactMatch DOID:2508 Takayasu's arteritis semapv:ManualMappingCuration 2022-01-24 EFO:1001858 Tarlov Cysts skos:exactMatch DOID:9000482 Tarlov Cysts semapv:ManualMappingCuration 2023-12-04 EFO:1001859 testicular hydrocele skos:exactMatch DOID:9912 hydrocele semapv:ManualMappingCuration 2023-12-04 EFO:1001860 thymus hyperplasia skos:exactMatch DOID:9004911 Thymus Hyperplasia semapv:ManualMappingCuration 2023-12-04 EFO:1001861 traumatic diaphragmatic hernia skos:exactMatch DOID:9001421 Diaphragmatic Hernia, Traumatic semapv:ManualMappingCuration 2023-12-04 EFO:1001862 urinary bladder fistula skos:exactMatch DOID:9006172 Urinary Bladder Fistula semapv:ManualMappingCuration 2023-12-04 EFO:1001863 Uterine Inertia skos:exactMatch DOID:9001832 Uterine Inertia semapv:ManualMappingCuration 2023-12-04 EFO:1001864 uterine prolapse skos:exactMatch DOID:9004984 Uterine Prolapse semapv:ManualMappingCuration 2023-12-04 EFO:1001865 ventilator-associated pneumonia skos:exactMatch DOID:9004257 Pneumonia, Ventilator-Associated semapv:ManualMappingCuration 2023-12-04 EFO:1001867 Zenker diverticulum skos:exactMatch DOID:9004620 Zenker Diverticulum semapv:ManualMappingCuration 2023-12-04 EFO:1001868 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:ManualMappingCuration 2023-04-17 EFO:1001869 dysentery skos:exactMatch DOID:12384 dysentery semapv:ManualMappingCuration 2022-01-24 EFO:1001870 late-onset Alzheimers disease skos:exactMatch DOID:10652 Alzheimer's disease semapv:ManualMappingCuration 2023-12-04 EFO:1001871 acquired cold urticaria skos:exactMatch DOID:0060220 physical urticaria semapv:ManualMappingCuration 2023-12-04 EFO:1001872 agoraphobia skos:exactMatch DOID:593 agoraphobia semapv:ManualMappingCuration 2022-01-24 EFO:1001873 AIDS phobia skos:exactMatch DOID:603 AIDS phobia semapv:ManualMappingCuration 2022-01-24 EFO:1001874 amyloidoma skos:exactMatch DOID:9007454 amyloidoma semapv:ManualMappingCuration 2023-12-04 EFO:1001875 amyloidosis skos:exactMatch DOID:9120 amyloidosis semapv:ManualMappingCuration 2022-01-24 EFO:1001876 animal phobia skos:exactMatch DOID:600 animal phobia semapv:ManualMappingCuration 2022-01-24 EFO:1001878 blood-injection-injury phobia skos:exactMatch DOID:599 specific phobia semapv:ManualMappingCuration 2023-12-04 EFO:1001879 cancerophobia skos:exactMatch DOID:602 cancerophobia semapv:ManualMappingCuration 2022-01-24 EFO:1001880 chemotherapy-induced gastrointestinal mucositis skos:exactMatch DOID:0080178 mucositis semapv:ManualMappingCuration 2023-12-04 EFO:1001881 cold urticaria skos:exactMatch DOID:0060220 physical urticaria semapv:ManualMappingCuration 2023-12-04 EFO:1001882 cutaneous nodular amyloidosis skos:exactMatch DOID:9001902 cutaneous nodular amyloidosis semapv:ManualMappingCuration 2023-12-04 EFO:1001883 Dendritic keratitis skos:exactMatch DOID:9008162 Dendritic Keratitis semapv:ManualMappingCuration 2023-12-04 EFO:1001884 dental phobia skos:exactMatch DOID:9003606 dental phobia semapv:ManualMappingCuration 2023-12-04 EFO:1001887 epicondylitis skos:exactMatch DOID:14087 epicondylitis semapv:ManualMappingCuration 2022-01-24 EFO:1001888 eye infection skos:exactMatch DOID:9008201 Eye Infections semapv:ManualMappingCuration 2023-12-04 EFO:1001889 flying phobia skos:exactMatch DOID:605 flying phobia semapv:ManualMappingCuration 2022-01-24 EFO:1001890 food allergy skos:exactMatch DOID:3044 food allergy semapv:ManualMappingCuration 2022-01-24 EFO:1001892 generalized anxiety disorder skos:exactMatch DOID:14320 generalized anxiety disorder semapv:ManualMappingCuration 2022-01-24 EFO:1001893 Hand-foot syndrome skos:exactMatch DOID:9005708 Hand-Foot Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001896 lateral epicondylitis skos:exactMatch DOID:14087 epicondylitis semapv:ManualMappingCuration 2023-12-04 EFO:1001898 mucositis skos:exactMatch DOID:0080178 mucositis semapv:ManualMappingCuration 2023-12-04 EFO:1001900 myoclonic epilepsy skos:exactMatch DOID:9005154 Myoclonic Epilepsies semapv:ManualMappingCuration 2023-12-04 EFO:1001901 neuroendocrine neoplasm skos:exactMatch DOID:169 neuroendocrine tumor semapv:ManualMappingCuration 2022-01-24 EFO:1001902 neuromuscular disease skos:exactMatch DOID:440 neuromuscular disease semapv:ManualMappingCuration 2022-01-24 EFO:1001903 nosophobia skos:exactMatch DOID:0060048 nosophobia semapv:ManualMappingCuration 2022-01-24 EFO:1001904 oral mucositis skos:exactMatch DOID:9637 stomatitis semapv:ManualMappingCuration 2023-12-04 EFO:1001907 panic disorder without agoraphobia skos:exactMatch DOID:594 panic disorder semapv:ManualMappingCuration 2023-12-04 EFO:1001908 phobic disorder skos:exactMatch DOID:591 phobic disorder semapv:ManualMappingCuration 2022-01-24 EFO:1001909 Plantar Fasciitis skos:exactMatch DOID:9600 plantar fasciitis semapv:ManualMappingCuration 2023-12-04 EFO:1001910 pulmonary amyloidosis skos:exactMatch DOID:9003080 pulmonary amyloidosis semapv:ManualMappingCuration 2023-12-04 EFO:1001911 pulmonary nodular amyloidosis skos:exactMatch DOID:9003080 pulmonary amyloidosis semapv:ManualMappingCuration 2023-12-04 EFO:1001913 Purpura Fulminans skos:exactMatch DOID:0060538 purpura fulminans semapv:ManualMappingCuration 2023-12-04 EFO:1001916 separation anxiety disorder skos:exactMatch DOID:10685 separation anxiety disorder semapv:ManualMappingCuration 2022-01-24 EFO:1001917 social anxiety disorder skos:exactMatch DOID:11257 social phobia semapv:ManualMappingCuration 2022-01-24 EFO:1001918 specific phobia skos:exactMatch DOID:599 specific phobia semapv:ManualMappingCuration 2022-01-24 EFO:1001919 Spinal cord injury skos:exactMatch DOID:9000039 Spinal Cord Injuries semapv:ManualMappingCuration 2023-12-04 EFO:1001923 varicose ulcer skos:exactMatch DOID:9004272 Varicose Ulcer semapv:ManualMappingCuration 2023-12-04 EFO:1001925 pneumococcal bacteremia skos:exactMatch DOID:9001298 pneumococcal bacteremia semapv:ManualMappingCuration 2023-12-04 EFO:1001926 pathological gambling skos:exactMatch DOID:12399 pathological gambling semapv:ManualMappingCuration 2022-01-24 EFO:1001927 cutaneous squamous cell carcinoma skos:exactMatch DOID:3151 skin squamous cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001928 small intestine neuroendocrine tumor skos:exactMatch DOID:4434 small intestine neuroendocrine neoplasm semapv:ManualMappingCuration 2022-01-24 EFO:1001929 selective IgA deficiency disease skos:exactMatch DOID:0060025 immunoglobulin alpha deficiency semapv:ManualMappingCuration 2022-01-24 EFO:1001929 selective IgA deficiency disease skos:exactMatch DOID:11701 selective IgA deficiency disease semapv:ManualMappingCuration 2022-01-24 EFO:1001930 idiopathic osteonecrosis of the femoral head skos:exactMatch DOID:9003049 Femur Head Necrosis semapv:ManualMappingCuration 2023-12-04 EFO:1001931 oropharynx cancer skos:exactMatch DOID:8557 oropharynx cancer semapv:ManualMappingCuration 2022-01-24 EFO:1001932 adult acute megakaryoblastic leukemia skos:exactMatch DOID:8761 acute megakaryocytic leukemia semapv:ManualMappingCuration 2023-12-04 EFO:1001933 adult acute monocytic leukemia skos:exactMatch DOID:0080149 adult acute monocytic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:1001934 adult acute myeloid leukemia skos:exactMatch DOID:9119 acute myeloid leukemia semapv:ManualMappingCuration 2023-12-04 EFO:1001935 adult B acute lymphoblastic leukemia skos:exactMatch DOID:0060592 B-cell adult acute lymphocytic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:1001936 adult T acute lymphoblastic leukemia skos:exactMatch DOID:5602 T-cell adult acute lymphocytic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:1001937 amelanotic melanoma skos:exactMatch DOID:4359 amelanotic melanoma semapv:ManualMappingCuration 2022-01-24 EFO:1001938 B-cell non-Hodgkins lymphoma skos:exactMatch DOID:707 B-cell lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1001939 Barrett adenocarcinoma skos:exactMatch DOID:7941 Barrett's adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001940 basaloid squamous cell carcinoma skos:exactMatch DOID:5522 basaloid squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001941 bronchioloalveolar carcinoma skos:exactMatch DOID:4926 bronchiolo-alveolar adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001942 bronchogenic carcinoma skos:exactMatch DOID:3904 bronchus carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001943 childhood acute megakaryoblastic leukemia skos:exactMatch DOID:0080794 childhood acute megakaryoblastic leukemia semapv:ManualMappingCuration 2023-12-04 EFO:1001944 childhood acute monocytic leukemia skos:exactMatch DOID:8864 acute monocytic leukemia semapv:ManualMappingCuration 2023-12-04 EFO:1001945 childhood acute myeloid leukemia with maturation skos:exactMatch DOID:0070323 childhood acute myeloid leukemia semapv:ManualMappingCuration 2023-12-04 EFO:1001946 childhood B acute lymphoblastic leukemia skos:exactMatch DOID:0080146 childhood B-cell acute lymphoblastic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:1001947 childhood T acute lymphoblastic leukemia skos:exactMatch DOID:0080145 childhood T-cell acute lymphoblastic leukemia semapv:ManualMappingCuration 2022-01-24 EFO:1001948 childhood T lymphoblastic lymphoma skos:exactMatch DOID:0080148 T-cell childhood lymphoblastic lymphoma semapv:ManualMappingCuration 2022-01-24 EFO:1001949 colon adenocarcinoma skos:exactMatch DOID:234 colon adenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001950 colon carcinoma skos:exactMatch DOID:1520 colon carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001951 colorectal carcinoma skos:exactMatch DOID:0080199 colorectal carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001951 colorectal carcinoma skos:exactMatch DOID:0080200 bilateral renal aplasia semapv:ManualMappingCuration 2023-12-04 EFO:1001952 endometrial adenosquamous carcinoma skos:exactMatch DOID:5631 endometrial adenosquamous carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001953 endometrial endometrioid adenocarcinoma, variant with squamous differentiation skos:exactMatch DOID:2870 endometrial adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001954 Epstein-Barr virus-related Burkitts lymphoma skos:exactMatch DOID:8584 Burkitt lymphoma semapv:ManualMappingCuration 2023-12-04 EFO:1001955 erythroleukemia skos:exactMatch DOID:0080916 erythroleukemia semapv:ManualMappingCuration 2023-12-04 EFO:1001956 gallbladder carcinoma skos:exactMatch DOID:4948 gallbladder carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001957 hereditary thyroid gland medullary carcinoma skos:exactMatch DOID:0050547 familial medullary thyroid carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001958 high grade ovarian serous adenocarcinoma skos:exactMatch DOID:5744 ovary serous adenocarcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001959 hilar cholangiocarcinoma skos:exactMatch DOID:4927 Klatskin's tumor semapv:ManualMappingCuration 2022-01-24 EFO:1001960 hypopharyngeal squamous cell carcinoma skos:exactMatch DOID:9005472 hypopharyngeal squamous cell carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001961 intrahepatic cholangiocarcinoma skos:exactMatch DOID:4928 intrahepatic cholangiocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001962 ovarian cystadenocarcinoma skos:exactMatch DOID:3605 ovarian cystadenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001963 ovarian mucinous cystadenocarcinoma skos:exactMatch DOID:3604 ovarian mucinous cystadenocarcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001964 pancreatic somatostatinoma skos:exactMatch DOID:4432 pancreatic somatostatinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001965 pharyngeal squamous cell carcinoma skos:exactMatch DOID:0050921 pharynx squamous cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001966 rectosigmoid adenocarcinoma skos:exactMatch DOID:2781 rectosigmoid cancer semapv:ManualMappingCuration 2023-12-04 EFO:1001967 salivary gland squamous cell carcinoma skos:exactMatch DOID:0050904 salivary gland carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1001968 soft tissue sarcoma skos:exactMatch DOID:1115 sarcoma semapv:ManualMappingCuration 2023-12-04 EFO:1001969 squamous cell breast carcinoma, acantholytic variant skos:exactMatch DOID:7459 acantholytic variant squamous cell breast carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001970 squamous papilloma skos:exactMatch DOID:139 squamous cell papilloma semapv:ManualMappingCuration 2022-01-24 EFO:1001971 thyroid gland sarcoma skos:exactMatch DOID:4515 thyroid sarcoma semapv:ManualMappingCuration 2023-12-04 EFO:1001972 undifferentiated pleomorphic sarcoma skos:exactMatch DOID:1907 malignant fibrous histiocytoma semapv:ManualMappingCuration 2022-01-24 EFO:1001973 ureter urothelial carcinoma skos:exactMatch DOID:6888 ureter transitional cell carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1001974 uterine leiomyosarcoma skos:exactMatch DOID:5289 uterus leiomyosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1001975 vulvar leiomyosarcoma skos:exactMatch DOID:5286 vulvar leiomyosarcoma semapv:ManualMappingCuration 2022-01-24 EFO:1001976 cardioembolic stroke skos:exactMatch DOID:9000243 cardioembolic stroke semapv:ManualMappingCuration 2023-12-04 EFO:1001977 3MC syndrome 2 skos:exactMatch DOID:0060576 3MC syndrome 2 semapv:ManualMappingCuration 2022-01-24 EFO:1001978 3MC syndrome 1 skos:exactMatch DOID:0060575 3MC syndrome 1 semapv:ManualMappingCuration 2022-01-24 EFO:1001979 Adrenocorticotropic hormone deficiency skos:exactMatch DOID:0080150 adrenocorticotropic hormone deficiency semapv:ManualMappingCuration 2022-01-24 EFO:1001980 Alpha-methylacyl-CoA racemase deficiency skos:exactMatch DOID:0060602 alpha-methylacyl-CoA racemase deficiency semapv:ManualMappingCuration 2022-01-24 EFO:1001981 Aminoacylase 1 deficiency skos:exactMatch DOID:9003016 Aminoacylase 1 Deficiency semapv:ManualMappingCuration 2023-12-04 EFO:1001982 Antisynthetase syndrome skos:exactMatch DOID:0080744 antisynthetase syndrome semapv:ManualMappingCuration 2023-03-17 EFO:1001983 Autosomal recessive Charcot Marie Tooth disease type 2X skos:exactMatch DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X semapv:ManualMappingCuration 2022-01-24 EFO:1001984 cardiac amyloidosis skos:exactMatch DOID:9000299 cardiac amyloidosis semapv:ManualMappingCuration 2023-12-04 EFO:1001985 congenital fibrosis of the extraocular muscles skos:exactMatch DOID:0080143 congenital fibrosis of the extraocular muscles semapv:ManualMappingCuration 2022-01-24 EFO:1001986 connective tissue disease skos:exactMatch DOID:65 connective tissue disease semapv:ManualMappingCuration 2022-01-24 EFO:1001987 dropped head syndrome skos:exactMatch DOID:0060034 dropped head syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1001988 Juvenile Polymyositis skos:exactMatch DOID:0080745 polymyositis semapv:ManualMappingCuration 2023-12-04 EFO:1001989 Monomelic amyotrophy skos:exactMatch DOID:9007330 Monomelic Amyotrophy semapv:ManualMappingCuration 2023-12-04 EFO:1001990 ocular motility disease skos:exactMatch DOID:1279 ocular motility disease semapv:ManualMappingCuration 2022-01-24 EFO:1001991 pneumonitis skos:exactMatch DOID:552 pneumonia semapv:ManualMappingCuration 2023-12-04 EFO:1001992 Scapuloperoneal spinal muscular atrophy skos:exactMatch DOID:0111552 scapuloperoneal spinal muscular atrophy semapv:ManualMappingCuration 2022-01-24 EFO:1001993 scleroderma skos:exactMatch DOID:419 scleroderma semapv:ManualMappingCuration 2022-01-24 EFO:1001994 Scleroderma Polymyositis Overlap Syndrome skos:exactMatch DOID:0080745 polymyositis semapv:ManualMappingCuration 2023-12-04 EFO:1001995 Sclerodermatomyositis skos:exactMatch DOID:10223 dermatomyositis semapv:ManualMappingCuration 2023-12-04 EFO:1001996 Thalassemia skos:exactMatch DOID:10241 thalassemia semapv:ManualMappingCuration 2022-01-24 EFO:1001998 complex regional pain syndrome skos:exactMatch DOID:3223 complex regional pain syndrome semapv:ManualMappingCuration 2022-01-24 EFO:1001999 systemic juvenile idiopathic arthritis skos:exactMatch DOID:9002765 Systemic Juvenile Rheumatoid Arthritis semapv:ManualMappingCuration 2023-12-04 EFO:1002000 Takotsubo cardiomyopathy skos:exactMatch DOID:9002399 Takotsubo Cardiomyopathy semapv:ManualMappingCuration 2023-12-04 EFO:1002001 core binding factor acute myeloid leukemia skos:exactMatch DOID:0080796 core binding factor acute myeloid leukemia semapv:ManualMappingCuration 2023-12-04 EFO:1002002 high altitude pulmonary edema skos:exactMatch DOID:9005526 Pulmonary Edema of Mountaineers semapv:ManualMappingCuration 2023-12-04 EFO:1002003 hypersensitivity reaction disease skos:exactMatch DOID:0060056 hypersensitivity reaction disease semapv:ManualMappingCuration 2022-01-24 EFO:1002004 drug hypersensitivity syndrome skos:exactMatch DOID:9007806 Drug Hypersensitivity Syndrome semapv:ManualMappingCuration 2023-12-04 EFO:1002005 lumbar disc herniation skos:exactMatch DOID:9000585 Intervertebral Disc Disease semapv:ManualMappingCuration 2023-12-04 EFO:1002006 treatment-resistant hypertension skos:exactMatch DOID:9006738 Hypertension Resistant to Conventional Therapy semapv:ManualMappingCuration 2023-12-04 EFO:1002008 atypical teratoid rhabdoid tumor skos:exactMatch DOID:2129 atypical teratoid rhabdoid tumor semapv:ManualMappingCuration 2022-01-24 EFO:1002010 TP53 Positive Breast Carcinoma skos:exactMatch DOID:3459 breast carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1002011 adult onset asthma skos:exactMatch DOID:2841 asthma semapv:ManualMappingCuration 2023-12-04 EFO:1002012 ligament rupture skos:exactMatch DOID:9007994 ligament rupture semapv:ManualMappingCuration 2023-12-04 EFO:1002013 alcoholic pancreatitis skos:exactMatch DOID:4988 alcoholic pancreatitis semapv:ManualMappingCuration 2022-01-24 EFO:1002014 melancholia skos:exactMatch DOID:1595 melancholic depression semapv:ManualMappingCuration 2023-12-04 EFO:1002014 melancholia skos:exactMatch DOID:2848 melancholia semapv:ManualMappingCuration 2022-01-24 EFO:1002015 HPV-associated cervical carcinoma skos:exactMatch DOID:2893 cervix carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1002016 poorly differentiated follicular thyroid carcinoma skos:exactMatch DOID:3962 follicular thyroid carcinoma semapv:ManualMappingCuration 2023-12-04 EFO:1002017 differentiated thyroid carcinoma skos:exactMatch DOID:0080525 differentiated high-grade thyroid carcinoma semapv:ManualMappingCuration 2022-01-24 EFO:1002018 bronchial disease skos:exactMatch DOID:1176 bronchial disease semapv:ManualMappingCuration 2022-01-24 EFO:1002019 oligoarticular juvenile idiopathic arthritis skos:exactMatch DOID:9008276 Juvenile Pauciarticular Chronic Arthritis semapv:ManualMappingCuration 2023-12-04 EFO:1002020 polyarticular juvenile idiopathic arthritis, rheumatoid factor negative skos:exactMatch DOID:676 juvenile rheumatoid arthritis semapv:ManualMappingCuration 2023-12-04 EFO:1002021 ankle injury skos:exactMatch DOID:9001714 Ankle Injuries semapv:ManualMappingCuration 2023-12-04 EFO:1002022 Herpes simplex infection skos:exactMatch DOID:8566 herpes simplex semapv:ManualMappingCuration 2022-01-24 EFO:1002023 plantar wart skos:exactMatch DOID:13775 plantar wart semapv:ManualMappingCuration 2022-01-24 EFO:1002024 streptococcal pharyngitis skos:exactMatch DOID:9000370 streptococcal pharyngitis semapv:ManualMappingCuration 2023-12-04 EFO:1002025 measles skos:exactMatch DOID:8622 measles semapv:ManualMappingCuration 2022-01-24 EFO:1002026 rubella skos:exactMatch DOID:8781 rubella semapv:ManualMappingCuration 2022-01-24 EFO:1002027 osteomalacia skos:exactMatch DOID:10573 osteomalacia semapv:ManualMappingCuration 2023-12-04 EFO:1002028 cicatricial alopecia skos:exactMatch DOID:9007442 Central Centrifugal Cicatricial Alopecia semapv:ManualMappingCuration 2023-12-04 EFO:1002029 chronic rhinosinusitis with nasal polyps skos:exactMatch DOID:9007575 chronic rhinosinusitis with nasal polyps semapv:ManualMappingCuration 2023-12-04 EFO:1002030 chronic rhinosinusitis without nasal polyps skos:exactMatch DOID:9006771 Chronic Rhinosinusitis semapv:ManualMappingCuration 2023-12-04 EFO:1002031 Hodgkins lymphoma, mixed cellularity skos:exactMatch DOID:8654 Hodgkin's lymphoma, mixed cellularity semapv:ManualMappingCuration 2022-01-24 EFO:1002034 secondary hypertension skos:exactMatch DOID:11130 secondary hypertension semapv:ManualMappingCuration 2022-01-24 EFO:1002039 renal hypertension skos:exactMatch DOID:1073 renal hypertension semapv:ManualMappingCuration 2022-01-24 EFO:1002040 Corneal astigmatism skos:exactMatch DOID:11782 astigmatism semapv:ManualMappingCuration 2023-12-04 EFO:1002046 apocrine sweat gland disease skos:exactMatch DOID:1383 sweat gland disease semapv:ManualMappingCuration 2023-12-04 EFO:1002047 spotted fever skos:exactMatch DOID:11104 spotted fever semapv:ManualMappingCuration 2022-01-24 EFO:1002048 kidney failure skos:exactMatch DOID:1074 kidney failure semapv:ManualMappingCuration 2022-01-24 EFO:1002049 glomerular disease skos:exactMatch DOID:9000104 Glomerular Diseases semapv:ManualMappingCuration 2023-12-04 EFO:1002050 nephritis skos:exactMatch DOID:10952 nephritis semapv:ManualMappingCuration 2022-01-24 EFO:1002051 facial nerve disease skos:exactMatch DOID:1756 facial nerve disease semapv:ManualMappingCuration 2022-01-24 HP:0000011 Neurogenic bladder skos:exactMatch DOID:12143 neurogenic bladder semapv:ManualMappingCuration 2023-03-17 HP:0000175 Cleft palate skos:exactMatch DOID:674 cleft palate semapv:ManualMappingCuration 2023-03-17 HP:0000407 Sensorineural hearing impairment skos:exactMatch DOID:10003 sensorineural hearing loss semapv:ManualMappingCuration 2023-03-17 HP:0000483 Astigmatism skos:exactMatch DOID:11782 astigmatism semapv:ManualMappingCuration 2023-03-17 HP:0000483 Astigmatism skos:exactMatch DOID:9835 refractive error semapv:ManualMappingCuration 2023-03-17 HP:0000545 Myopia skos:exactMatch DOID:11830 myopia semapv:ManualMappingCuration 2023-03-17 HP:0000979 Purpura skos:exactMatch DOID:3326 purpura semapv:ManualMappingCuration 2023-03-17 HP:0000999 Pyoderma skos:exactMatch DOID:4223 pyoderma semapv:ManualMappingCuration 2023-03-17 HP:0001636 Tetralogy of Fallot skos:exactMatch DOID:6419 tetralogy of Fallot semapv:ManualMappingCuration 2023-03-17 HP:0001657 Prolonged QT interval skos:exactMatch DOID:2843 long QT syndrome semapv:ManualMappingCuration 2023-03-17 HP:0001891 Iron deficiency anemia skos:exactMatch DOID:11758 iron deficiency anemia semapv:ManualMappingCuration 2023-03-17 HP:0001915 Aplastic anemia skos:exactMatch DOID:12449 aplastic anemia semapv:ManualMappingCuration 2023-03-17 HP:0001943 Hypoglycemia skos:exactMatch DOID:9993 hypoglycemia semapv:ManualMappingCuration 2023-03-17 HP:0002014 Diarrhea skos:exactMatch DOID:13250 diarrhea semapv:ManualMappingCuration 2023-03-17 HP:0002035 Rectal prolapse skos:exactMatch DOID:9307 rectal prolapse semapv:ManualMappingCuration 2023-03-17 HP:0002110 Bronchiectasis skos:exactMatch DOID:9563 bronchiectasis semapv:ManualMappingCuration 2023-03-17 HP:0002148 Hypophosphatemia skos:exactMatch DOID:0050336 hypophosphatemia semapv:ManualMappingCuration 2023-03-17 HP:0002251 Aganglionic megacolon skos:exactMatch DOID:11372 megacolon semapv:ManualMappingCuration 2023-03-17 HP:0002619 Varicose veins skos:exactMatch DOID:799 varicose veins semapv:ManualMappingCuration 2023-03-17 HP:0002900 Hypokalemia skos:exactMatch DOID:4500 hypokalemia semapv:ManualMappingCuration 2023-03-17 HP:0003072 Hypercalcemia skos:exactMatch DOID:12678 hypercalcemia semapv:ManualMappingCuration 2023-03-17 HP:0003074 Hyperglycemia skos:exactMatch DOID:4195 hyperglycemia semapv:ManualMappingCuration 2023-03-17 HP:0004840 Hypochromic microcytic anemia skos:exactMatch DOID:0050642 hypochromic microcytic anemia semapv:ManualMappingCuration 2023-03-17 HP:0006536 Airway obstruction skos:exactMatch DOID:2320 obstructive lung disease semapv:ManualMappingCuration 2023-03-17 HP:0007313 Cerebral degeneration skos:exactMatch DOID:1443 cerebral degeneration semapv:ManualMappingCuration 2023-03-17 HP:0010865 Oppositional defiant disorder skos:exactMatch DOID:0050856 oppositional defiant disorder semapv:ManualMappingCuration 2023-03-17 HP:0011950 Bronchiolitis skos:exactMatch DOID:2942 bronchiolitis semapv:ManualMappingCuration 2023-03-17 HP:0012115 Hepatitis skos:exactMatch DOID:2237 hepatitis semapv:ManualMappingCuration 2023-03-17 HP:0012234 Agranulocytosis skos:exactMatch DOID:12987 agranulocytosis semapv:ManualMappingCuration 2023-03-17 HP:0030151 Cholangitis skos:exactMatch DOID:9446 cholangitis semapv:ManualMappingCuration 2023-03-17 HP:0100727 Histiocytosis skos:exactMatch DOID:3405 histiocytosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000009 inherited bleeding disorder, platelet-type skos:exactMatch DOID:2218 blood platelet disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000023 infantile liver failure skos:exactMatch DOID:0080716 infantile liver failure syndrome semapv:ManualMappingCuration 2023-04-17 MONDO:0000032 febrile seizures, familial skos:exactMatch DOID:0111297 familial febrile seizures semapv:ManualMappingCuration 2023-03-17 MONDO:0000050 isolated congenital growth hormone deficiency skos:exactMatch DOID:0060870 isolated growth hormone deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0000062 isolated microphthalmia skos:exactMatch DOID:0080637 isolated microphthalmia semapv:ManualMappingCuration 2023-03-17 MONDO:0000079 nephrolithiasis/osteoporosis, hypophosphatemic skos:exactMatch DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis semapv:ManualMappingCuration 2024-02-18 MONDO:0000087 polymicrogyria skos:exactMatch DOID:0080918 polymicrogyria semapv:ManualMappingCuration 2023-03-17 MONDO:0000127 geleophysic dysplasia skos:exactMatch DOID:0111724 geleophysic dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:exactMatch DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000136 keratosis follicularis spinulosa decalvans skos:exactMatch DOID:0080753 keratosis follicularis spinulosa decalvans semapv:ManualMappingCuration 2023-03-17 MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch DOID:0080688 mosaic variegated aneuploidy syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000160 epilepsy, familial adult myoclonic skos:exactMatch DOID:0111689 familial adult myoclonic epilepsy semapv:ManualMappingCuration 2023-03-17 MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch DOID:0050560 Walker-Warburg syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B skos:exactMatch DOID:0112375 muscular dystrophy-dystroglycanopathy type B semapv:ManualMappingCuration 2023-06-18 MONDO:0000188 GLUT1 deficiency syndrome skos:exactMatch DOID:0070560 glucose transporter type 1 deficiency syndrome semapv:ManualMappingCuration 2024-10-20 MONDO:0000193 cortisone reductase deficiency skos:exactMatch DOID:0090139 cortisone reductase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0000214 hypermanganesemia with dystonia skos:exactMatch DOID:0080535 hypermanganesemia with dystonia semapv:ManualMappingCuration 2023-03-17 MONDO:0000224 acquired carbohydrate metabolism disease skos:exactMatch DOID:0050013 carbohydrate metabolism disease semapv:ManualMappingCuration 2024-04-21 MONDO:0000236 oropharyngeal anthrax skos:exactMatch DOID:0050059 oropharyngeal anthrax semapv:ManualMappingCuration 2024-04-21 MONDO:0000252 inflammatory diarrhea skos:exactMatch DOID:0050132 inflammatory diarrhea semapv:ManualMappingCuration 2023-03-17 MONDO:0000254 cutaneous mycosis skos:exactMatch DOID:0050134 cutaneous mycosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000255 subcutaneous mycosis skos:exactMatch DOID:0050135 subcutaneous mycosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000256 systemic mycosis skos:exactMatch DOID:0050136 systemic mycosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000257 acute diarrhea skos:exactMatch DOID:0050140 acute diarrhea semapv:ManualMappingCuration 2023-03-17 MONDO:0000262 otomycosis skos:exactMatch DOID:0050147 otomycosis semapv:ManualMappingCuration 2024-04-21 MONDO:0000263 laryngotracheitis skos:exactMatch DOID:0050148 laryngotracheitis semapv:ManualMappingCuration 2023-03-17 MONDO:0000271 tuberculous salpingitis skos:exactMatch DOID:0050166 tuberculous salpingitis semapv:ManualMappingCuration 2023-03-17 MONDO:0000286 Epstein-Barr virus hepatitis skos:exactMatch DOID:0050204 Epstein-Barr virus hepatitis semapv:ManualMappingCuration 2024-04-21 MONDO:0000307 parasitic Ichthyosporea infectious disease skos:exactMatch DOID:0050291 parasitic Ichthyosporea infectious disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000308 primary systemic mycosis skos:exactMatch DOID:0050292 primary systemic mycosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000313 hypophosphatemia skos:exactMatch DOID:0050336 hypophosphatemia semapv:ManualMappingCuration 2024-04-21 MONDO:0000314 primary bacterial infectious disease skos:exactMatch DOID:0050338 primary bacterial infectious disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000315 commensal bacterial infectious disease skos:exactMatch DOID:0050339 commensal bacterial infectious disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000316 opportunistic bacterial infectious disease skos:exactMatch DOID:0050340 opportunistic bacterial infectious disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000320 glandular tularemia skos:exactMatch DOID:0050382 glandular tularemia semapv:ManualMappingCuration 2024-04-21 MONDO:0000327 Buruli ulcer disease skos:exactMatch DOID:0050456 Buruli ulcer disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000328 hyperphosphatemia skos:exactMatch DOID:0050459 hyperphosphatemia semapv:ManualMappingCuration 2024-02-18 MONDO:0000334 multinodular goiter skos:exactMatch DOID:0050489 multinodular goiter semapv:ManualMappingCuration 2023-03-17 MONDO:0000341 paralytic poliomyelitis skos:exactMatch DOID:0050515 paralytic poliomyelitis semapv:ManualMappingCuration 2023-03-17 MONDO:0000351 disorder of methionine catabolism skos:exactMatch DOID:0050544 hypermethioninemia semapv:ManualMappingCuration 2023-03-17 MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch DOID:0050558 Ullrich congenital muscular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0000358 orofacial cleft skos:exactMatch DOID:0050567 orofacial cleft semapv:ManualMappingCuration 2023-03-17 MONDO:0000359 spondylocostal dysostosis skos:exactMatch DOID:0050568 spondylocostal dysostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000368 extrapulmonary tuberculosis skos:exactMatch DOID:0050598 extrapulmonary tuberculosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000369 abdominal tuberculosis skos:exactMatch DOID:0050599 abdominal tuberculosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000371 oral cavity carcinoma in situ skos:exactMatch DOID:0050610 oral cavity carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0000372 pharynx carcinoma in situ skos:exactMatch DOID:0050611 pharynx carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0000373 gall bladder carcinoma in situ skos:exactMatch DOID:0050612 gallbladder carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0000374 bile duct carcinoma in situ skos:exactMatch DOID:0050613 bile duct carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0000375 bronchus carcinoma in situ skos:exactMatch DOID:0050614 bronchus carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0000376 respiratory system cancer skos:exactMatch DOID:0050615 respiratory system cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0000380 paranasal sinus carcinoma skos:exactMatch DOID:0050619 paranasal sinus cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0000381 infiltrating renal pelvis transitional cell carcinoma skos:exactMatch DOID:0050620 infiltrating renal pelvis transitional cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000382 respiratory system benign neoplasm skos:exactMatch DOID:0050621 respiratory system benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000383 benign reproductive system neoplasm skos:exactMatch DOID:0050622 reproductive organ benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000384 bladder benign neoplasm skos:exactMatch DOID:0050623 bladder benign neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0000385 benign digestive system neoplasm skos:exactMatch DOID:0050624 gastrointestinal system benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 skos:exactMatch DOID:0050626 gastrointestinal neuroendocrine tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0000387 hypochromic microcytic anemia skos:exactMatch DOID:0050642 hypochromic microcytic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0000389 atelosteogenesis skos:exactMatch DOID:0050648 atelosteogenesis semapv:ManualMappingCuration 2023-03-17 MONDO:0000390 vitelliform macular dystrophy skos:exactMatch DOID:0050661 vitelliform macular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0000396 spastic cerebral palsy skos:exactMatch DOID:0050669 spastic cerebral palsy semapv:ManualMappingCuration 2023-03-17 MONDO:0000397 ataxic cerebral palsy skos:exactMatch DOID:0050670 ataxic cerebral palsy semapv:ManualMappingCuration 2024-04-21 MONDO:0000405 anal canal cancer skos:exactMatch DOID:0050688 anal canal cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0000407 malignant pleural solitary fibrous tumor skos:exactMatch DOID:0050695 malignant pleural solitary fibrous tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0000411 electroclinical syndrome skos:exactMatch DOID:0050701 electroclinical syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000412 neonatal period electroclinical syndrome skos:exactMatch DOID:0050702 neonatal period electroclinical syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000413 infancy electroclinical syndrome skos:exactMatch DOID:0050703 infancy electroclinical syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000414 childhood electroclinical syndrome skos:exactMatch DOID:0050704 childhood electroclinical syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000415 adolescence-adult electroclinical syndrome skos:exactMatch DOID:0050705 adolescence-adult electroclinical syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000421 inborn serine deficiency skos:exactMatch DOID:0050721 serine deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0000425 X-linked disease skos:exactMatch DOID:0050735 X-linked monogenic disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000426 autosomal dominant disease skos:exactMatch DOID:0050736 autosomal dominant disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000429 autosomal genetic disease skos:exactMatch DOID:0050739 autosomal genetic disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch DOID:0050743 mature T-cell and NK-cell lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:exactMatch DOID:0050749 peripheral T-cell lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000432 lymphoplasmacytic lymphoma skos:exactMatch DOID:0050747 lymphoplasmacytic lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000437 cerebellar ataxia skos:exactMatch DOID:0050753 cerebellar ataxia semapv:ManualMappingCuration 2023-03-17 MONDO:0000440 metabolic acidosis skos:exactMatch DOID:0050758 metabolic acidosis semapv:ManualMappingCuration 2023-11-19 MONDO:0000447 autosomal dominant polycystic liver disease skos:exactMatch DOID:0050770 polycystic liver disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000453 short QT syndrome skos:exactMatch DOID:0050793 short QT syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000455 cone dystrophy skos:exactMatch DOID:0050795 cone dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0000456 cerebral creatine deficiency syndrome skos:exactMatch DOID:0050798 cerebral creatine deficiency syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000461 nutritional biotin deficiency skos:exactMatch DOID:0050810 biotin deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0000463 Ochoa syndrome skos:exactMatch DOID:0050816 urofacial syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000465 atrioventricular block skos:exactMatch DOID:0050820 atrioventricular block semapv:ManualMappingCuration 2023-03-17 MONDO:0000468 third-degree atrioventricular block skos:exactMatch DOID:0050823 third-degree atrioventricular block semapv:ManualMappingCuration 2023-03-17 MONDO:0000469 sinoatrial node disorder skos:exactMatch DOID:0050824 sinoatrial node disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000470 endocardium disorder skos:exactMatch DOID:0050825 endocardium disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000473 arterial disorder skos:exactMatch DOID:0050828 artery disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000474 pericardium disorder skos:exactMatch DOID:0050829 pericardium disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000476 generalized dystonia skos:exactMatch DOID:0050835 generalized dystonia semapv:ManualMappingCuration 2023-03-17 MONDO:0000477 focal dystonia skos:exactMatch DOID:0050836 focal dystonia semapv:ManualMappingCuration 2023-03-17 MONDO:0000478 multifocal dystonia skos:exactMatch DOID:0050837 multifocal dystonia semapv:ManualMappingCuration 2023-03-17 MONDO:0000481 cervical dystonia skos:exactMatch DOID:0050840 cervical dystonia semapv:ManualMappingCuration 2023-03-17 MONDO:0000483 oculogyric crisis skos:exactMatch DOID:0050842 oculogyric crisis semapv:ManualMappingCuration 2023-11-19 MONDO:0000485 spasmodic dystonia skos:exactMatch DOID:0050844 spasmodic dystonia semapv:ManualMappingCuration 2023-03-17 MONDO:0000486 craniofacial dystonia skos:exactMatch DOID:0050845 cranio-facial dystonia semapv:ManualMappingCuration 2023-03-17 MONDO:0000489 diabetic encephalopathy skos:exactMatch DOID:0050850 diabetic encephalopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0000490 glomerulosclerosis skos:exactMatch DOID:0050851 glomerulosclerosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000491 limb ischemia skos:exactMatch DOID:0050852 limb ischemia semapv:ManualMappingCuration 2024-04-21 MONDO:0000496 hemorrhagic cystitis skos:exactMatch DOID:0050859 hemorrhagic cystitis semapv:ManualMappingCuration 2024-04-21 MONDO:0000497 pyometritis skos:exactMatch DOID:0050862 pyometritis semapv:ManualMappingCuration 2024-04-21 MONDO:0000502 villous adenoma skos:exactMatch DOID:0050869 villous adenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000503 lung adenocarcinoma in situ skos:exactMatch DOID:0050870 pulmonary adenocarcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:ManualMappingCuration 2023-03-17 MONDO:0000508 syndromic intellectual disability skos:exactMatch DOID:0050888 syndromic intellectual disability semapv:ManualMappingCuration 2023-03-17 MONDO:0000509 non-syndromic intellectual disability skos:exactMatch DOID:0050889 non-syndromic intellectual disability semapv:ManualMappingCuration 2023-03-17 MONDO:0000513 bone ameloblastoma skos:exactMatch DOID:0050895 bone ameloblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000514 bone squamous cell carcinoma skos:exactMatch DOID:0050896 bone squamous cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000515 bone chondrosarcoma skos:exactMatch DOID:0050897 bone chondrosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000517 brain stem medulloblastoma skos:exactMatch DOID:0050899 brain stem medulloblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000521 salivary gland carcinoma skos:exactMatch DOID:0050904 salivary gland carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000524 mixed extragonadal germ cell cancer skos:exactMatch DOID:0050907 mixed extragonadal germ cell cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0000527 colon adenoma skos:exactMatch DOID:0050912 colon adenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000530 rectum adenoma skos:exactMatch DOID:0050915 rectal adenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000531 bronchus mucoepidermoid carcinoma skos:exactMatch DOID:0050916 bronchus mucoepidermoid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000532 lung combined type small cell adenocarcinoma skos:exactMatch DOID:0050917 lung combined type small cell adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000534 trachea mucoepidermoid carcinoma skos:exactMatch DOID:0050919 trachea mucoepidermoid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000540 small intestinal neuroendocrine tumor G1 skos:exactMatch DOID:0050925 small intestine carcinoid neuroendocrine tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0000541 jejunal adenocarcinoma skos:exactMatch DOID:0050926 jejunal adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000543 ovarian melanoma skos:exactMatch DOID:0050928 ovarian melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000544 mucosal melanoma skos:exactMatch DOID:0050929 mucosal melanoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000545 sublingual gland adenoid cystic carcinoma skos:exactMatch DOID:0050930 sublingual gland adenoid cystic carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000548 ovarian clear cell cancer skos:exactMatch DOID:0050934 ovarian clear cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000549 cervical neuroblastoma skos:exactMatch DOID:0050935 cervical neuroblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000551 retroperitoneal neuroblastoma skos:exactMatch DOID:0050937 retroperitoneal neuroblastoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000553 uterine corpus endometrial carcinoma skos:exactMatch DOID:0050939 uterine corpus endometrial carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000554 endocervical adenocarcinoma skos:exactMatch DOID:0050940 endocervical adenocarcinoma semapv:ManualMappingCuration 2023-08-20 MONDO:0000565 infective endocarditis skos:exactMatch DOID:0060000 infective endocarditis semapv:ManualMappingCuration 2023-03-17 MONDO:0000569 autoimmune disorder of endocrine system skos:exactMatch DOID:0060005 autoimmune disease of endocrine system semapv:ManualMappingCuration 2023-03-17 MONDO:0000572 recombinase activating gene 1 deficiency skos:exactMatch DOID:0060011 recombinase activating gene 1 deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0000573 recombinase activating gene 2 deficiency skos:exactMatch DOID:0060012 recombinase activating gene 2 deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0000586 autoimmune disorder of exocrine system skos:exactMatch DOID:0060029 autoimmune disease of exocrine system semapv:ManualMappingCuration 2023-03-17 MONDO:0000587 autoimmune disease of ear, nose and throat skos:exactMatch DOID:0060030 autoimmune disease of eyes, ear, nose and throat semapv:ManualMappingCuration 2023-03-17 MONDO:0000588 autoimmune disorder of gastrointestinal tract skos:exactMatch DOID:0060031 autoimmune disease of gastrointestinal tract semapv:ManualMappingCuration 2023-03-17 MONDO:0000589 autoimmune disorder of musculoskeletal system skos:exactMatch DOID:0060032 autoimmune disease of musculoskeletal system semapv:ManualMappingCuration 2023-03-17 MONDO:0000590 autoimmune disorder of peripheral nervous system skos:exactMatch DOID:0060033 autoimmune disease of peripheral nervous system semapv:ManualMappingCuration 2023-03-17 MONDO:0000591 intrinsic cardiomyopathy skos:exactMatch DOID:0060036 intrinsic cardiomyopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0000592 specific developmental disorder skos:exactMatch DOID:0060038 specific developmental disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0000594 pervasive developmental disorder skos:exactMatch DOID:0060040 pervasive developmental disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0000595 sexual and gender identity disorders skos:exactMatch DOID:0060043 sexual health disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0000602 autoimmune disorder of blood skos:exactMatch DOID:0060050 autoimmune disease of blood semapv:ManualMappingCuration 2023-03-17 MONDO:0000603 autoimmune disorder of cardiovascular system skos:exactMatch DOID:0060051 autoimmune disease of cardiovascular system semapv:ManualMappingCuration 2023-03-17 MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch DOID:0060062 familial juvenile hyperuricemic nephropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0000611 pre-malignant neoplasm skos:exactMatch DOID:0060071 pre-malignant neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000612 lymphatic system cancer skos:exactMatch DOID:0060073 lymphatic system cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0000620 breast benign neoplasm skos:exactMatch DOID:0060082 breast benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000621 immune system cancer skos:exactMatch DOID:0060083 immune system cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0000624 benign female reproductive system neoplasm skos:exactMatch DOID:0060086 female reproductive organ benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000625 benign male reproductive system neoplasm skos:exactMatch DOID:0060087 male reproductive organ benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000626 vestibular gland benign neoplasm skos:exactMatch DOID:0060088 vestibular gland benign neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0000627 benign endocrine neoplasm skos:exactMatch DOID:0060089 endocrine organ benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000628 central nervous system organ benign neoplasm skos:exactMatch DOID:0060090 central nervous system benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000629 cardiovascular organ benign neoplasm skos:exactMatch DOID:0060091 cardiovascular organ benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000630 immune system organ benign neoplasm skos:exactMatch DOID:0060092 immune system organ benign neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0000631 bone benign neoplasm skos:exactMatch DOID:0060094 bone benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000632 uterine benign neoplasm skos:exactMatch DOID:0060095 uterine benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000633 sensory organ benign neoplasm skos:exactMatch DOID:0060096 sensory organ benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000634 thoracic benign neoplasm skos:exactMatch DOID:0060097 thoracic benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000636 musculoskeletal system benign neoplasm skos:exactMatch DOID:0060099 musculoskeletal system benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000637 musculoskeletal system cancer skos:exactMatch DOID:0060100 musculoskeletal system cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0000638 benign glioma skos:exactMatch DOID:0060101 benign glioma semapv:ManualMappingCuration 2023-03-17 MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch DOID:0060103 central nervous system embryonal tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0000643 vulvar benign neoplasm skos:exactMatch DOID:0060109 vulvar benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000644 cervical benign neoplasm skos:exactMatch DOID:0060110 cervical benign neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0000645 fallopian tube benign neoplasm skos:exactMatch DOID:0060111 fallopian tube benign neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0000647 benign vaginal neoplasm skos:exactMatch DOID:0060114 vaginal benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000648 nervous system benign neoplasm skos:exactMatch DOID:0060115 nervous system benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000649 sensory system cancer skos:exactMatch DOID:0060116 sensory system cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0000650 peritoneal benign neoplasm skos:exactMatch DOID:0060117 peritoneal benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000652 integumentary system benign neoplasm skos:exactMatch DOID:0060121 integumentary system benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000653 integumentary system cancer skos:exactMatch DOID:0060122 integumentary system cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0000654 benign connective and soft tissue neoplasm skos:exactMatch DOID:0060123 connective tissue benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000661 alexithymia skos:exactMatch DOID:0060131 alexithymia semapv:ManualMappingCuration 2023-03-17 MONDO:0000665 apraxia skos:exactMatch DOID:0060135 apraxia semapv:ManualMappingCuration 2023-03-17 MONDO:0000666 associative visual agnosia skos:exactMatch DOID:0060136 associative agnosia semapv:ManualMappingCuration 2024-04-21 MONDO:0000667 auditory agnosia skos:exactMatch DOID:0060137 auditory agnosia semapv:ManualMappingCuration 2024-04-21 MONDO:0000685 visual agnosia skos:exactMatch DOID:0060155 visual agnosia semapv:ManualMappingCuration 2024-04-21 MONDO:0000688 inborn organic aciduria skos:exactMatch DOID:0060159 organic acidemia semapv:ManualMappingCuration 2023-03-17 MONDO:0000698 gamma-amino butyric acid metabolism disorder skos:exactMatch DOID:0060176 gamma-amino butyric acid metabolism disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0000700 familial hemiplegic migraine skos:exactMatch DOID:0060178 familial hemiplegic migraine semapv:ManualMappingCuration 2023-03-17 MONDO:0000701 ischemic colitis skos:exactMatch DOID:0060181 ischemic colitis semapv:ManualMappingCuration 2023-03-17 MONDO:0000708 Crohn jejunoileitis skos:exactMatch DOID:0060188 jejunoileitis semapv:ManualMappingCuration 2024-04-21 MONDO:0000709 Crohn ileitis skos:exactMatch DOID:0060189 ileitis semapv:ManualMappingCuration 2023-03-17 MONDO:0000710 gastroduodenal Crohn disease skos:exactMatch DOID:0060191 gastroduodenal Crohn's disease semapv:ManualMappingCuration 2024-04-21 MONDO:0000715 lymph node adenoid cystic carcinoma skos:exactMatch DOID:0060219 lymph node adenoid cystic carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000722 non-syndromic synpolydactyly skos:exactMatch DOID:0060242 synpolydactyly semapv:ManualMappingCuration 2023-03-17 MONDO:0000723 stutter disorder skos:exactMatch DOID:0060243 stuttering semapv:ManualMappingCuration 2023-11-19 MONDO:0000726 idiopathic scoliosis skos:exactMatch DOID:0060250 idiopathic scoliosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000727 scapuloperoneal myopathy skos:exactMatch DOID:0060253 scapuloperoneal myopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0000728 ptosis skos:exactMatch DOID:0060260 ptosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000732 combined oxidative phosphorylation deficiency skos:exactMatch DOID:0060286 combined oxidative phosphorylation deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0000733 cornea plana skos:exactMatch DOID:0060287 cornea plana semapv:ManualMappingCuration 2023-03-17 MONDO:0000734 Ohdo syndrome and variants skos:exactMatch DOID:0060289 Ohdo syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000736 dyschromatosis universalis hereditaria skos:exactMatch DOID:0060304 dyschromatosis universalis hereditaria semapv:ManualMappingCuration 2023-03-17 MONDO:0000761 syndrome caused by partial chromosomal deletion skos:exactMatch DOID:0060388 chromosomal deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000762 syndrome caused by partial chromosomal duplication skos:exactMatch DOID:0060429 chromosomal duplication syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000763 epithelial and subepithelial corneal dystrophy skos:exactMatch DOID:0060440 epithelial and subepithelial dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0000764 epithelial-stromal TGFBI dystrophy skos:exactMatch DOID:0060441 epithelial-stromal TGFBI dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0000766 corneal endothelial dystrophy skos:exactMatch DOID:0060443 corneal endothelial dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0000771 allergic respiratory disease skos:exactMatch DOID:0060496 respiratory allergy semapv:ManualMappingCuration 2023-03-17 MONDO:0000774 autoimmune neuropathy skos:exactMatch DOID:0040087 autoimmune peripheral neuropathy semapv:ManualMappingCuration 2024-04-21 MONDO:0000774 autoimmune neuropathy skos:exactMatch DOID:0060499 autoimmune neuropathy semapv:ManualMappingCuration 2024-04-21 MONDO:0000777 gastrointestinal allergy skos:exactMatch DOID:0060502 gastrointestinal allergy semapv:ManualMappingCuration 2024-04-21 MONDO:0000812 vertebral column disorder skos:exactMatch DOID:0060564 spinal disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000816 abdominal obesity-metabolic syndrome skos:exactMatch DOID:0060611 abdominal obesity-metabolic syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000819 anencephaly skos:exactMatch DOID:0060668 anencephaly semapv:ManualMappingCuration 2023-03-17 MONDO:0000820 cerebral cavernous malformation skos:exactMatch DOID:0060669 cerebral cavernous malformation semapv:ManualMappingCuration 2023-03-17 MONDO:0000824 congenital diarrhea skos:exactMatch DOID:0060774 congenital diarrhea semapv:ManualMappingCuration 2023-03-17 MONDO:0000827 salmonellosis skos:exactMatch DOID:0060859 salmonellosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000828 juvenile-onset Parkinson disease skos:exactMatch DOID:0060893 juvenile-onset Parkinson's disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000831 thrombotic disease skos:exactMatch DOID:0060903 thrombosis semapv:ManualMappingCuration 2023-03-17 MONDO:0000833 bone remodeling disease skos:exactMatch DOID:0080005 bone remodeling disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000836 disease of bone structure skos:exactMatch DOID:0080010 bone structure disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000837 bone resorption disease skos:exactMatch DOID:0080011 bone resorption disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000845 fibrous dysplasia skos:exactMatch DOID:0080031 fibrous dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0000858 neuronal intestinal dysplasia skos:exactMatch DOID:0080072 intestinal pseudo-obstruction semapv:ManualMappingCuration 2023-11-19 MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0000870 childhood acute lymphoblastic leukemia skos:exactMatch DOID:0080144 childhood acute lymphocytic leukemia semapv:ManualMappingCuration 2023-03-17 MONDO:0000873 lymphoblastic lymphoma skos:exactMatch DOID:0080147 lymphoblastic lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000879 cutaneous candidiasis skos:exactMatch DOID:0080161 cutaneous candidiasis semapv:ManualMappingCuration 2023-03-17 MONDO:0000890 Zika virus congenital syndrome skos:exactMatch DOID:0080180 Zika virus congenital syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0000892 colon medullary carcinoma skos:exactMatch DOID:0080183 medullary colon carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000894 mucinous bronchioloalveolar adenocarcinoma skos:exactMatch DOID:0080185 mucinous bronchioloalveolar adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:exactMatch DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch DOID:0090033 myoclonic dystonia semapv:ManualMappingCuration 2023-03-17 MONDO:0000904 complex cortical dysplasia with other brain malformations skos:exactMatch DOID:0090131 complex cortical dysplasia with other brain malformations semapv:ManualMappingCuration 2023-03-17 MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:exactMatch DOID:0111035 CADASIL 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0000916 intestinal infectious disease skos:exactMatch DOID:100 intestinal infectious disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000919 ampulla of vater cancer skos:exactMatch DOID:10020 ampulla of Vater cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0000920 duodenum cancer skos:exactMatch DOID:10021 duodenum cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0000921 ampulla of vater neoplasm skos:exactMatch DOID:10022 ampulla of Vater benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0000923 interstitial emphysema skos:exactMatch DOID:10030 pulmonary interstitial emphysema semapv:ManualMappingCuration 2023-03-17 MONDO:0000924 compensatory emphysema skos:exactMatch DOID:10031 compensatory emphysema semapv:ManualMappingCuration 2023-03-17 MONDO:0000926 eye accommodation disease skos:exactMatch DOID:10034 eye accommodation disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000928 eyelid melanoma skos:exactMatch DOID:10040 malignant eyelid melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000931 endometrial disorder skos:exactMatch DOID:1005 endometrial disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000934 laryngeal leiomyoma skos:exactMatch DOID:10070 larynx leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000935 larynx squamous papilloma skos:exactMatch DOID:10071 larynx squamous papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0000936 syphilitic meningitis skos:exactMatch DOID:10073 syphilitic meningitis semapv:ManualMappingCuration 2024-04-21 MONDO:0000937 syphilitic encephalitis skos:exactMatch DOID:10081 syphilitic encephalitis semapv:ManualMappingCuration 2024-04-21 MONDO:0000938 gastric leiomyoma skos:exactMatch DOID:10087 gastric leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000944 cerebral artery occlusion skos:exactMatch DOID:10127 cerebral artery occlusion semapv:ManualMappingCuration 2023-03-17 MONDO:0000945 venous insufficiency skos:exactMatch DOID:10128 venous insufficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0000947 psychosexual disorder skos:exactMatch DOID:10132 psychosexual disorder semapv:ManualMappingCuration 2024-04-21 MONDO:0000949 conjunctival degeneration skos:exactMatch DOID:10139 conjunctival degeneration semapv:ManualMappingCuration 2023-03-17 MONDO:0000952 cancer of long bone of lower limb skos:exactMatch DOID:10149 long bones of lower limb cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0000955 ileum cancer skos:exactMatch DOID:10153 ileum cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0000956 small intestine cancer skos:exactMatch DOID:10154 small intestine cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0000959 malignant hypertensive renal disease skos:exactMatch DOID:10177 malignant hypertensive renal disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000962 spindle cell lipoma skos:exactMatch DOID:10184 spindle cell lipoma semapv:ManualMappingCuration 2023-03-17 MONDO:0000963 esophageal lipoma skos:exactMatch DOID:10187 esophageal lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000964 skin lipoma skos:exactMatch DOID:10188 skin lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000965 liver lipoma skos:exactMatch DOID:10190 liver lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000968 kidney lipoma skos:exactMatch DOID:10194 kidney lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000969 pleural lipoma skos:exactMatch DOID:10195 pleural lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000970 breast lipoma skos:exactMatch DOID:10199 breast lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000972 gallbladder lipoma skos:exactMatch DOID:10201 gallbladder lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000973 external ear lipoma skos:exactMatch DOID:10203 external ear lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000978 extrahepatic bile duct lipoma skos:exactMatch DOID:10209 extrahepatic bile duct lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000980 aortic atherosclerosis skos:exactMatch DOID:10230 aortic atherosclerosis semapv:ManualMappingCuration 2024-04-21 MONDO:0000981 Histoplasma pericarditis skos:exactMatch DOID:10234 histoplasmosis pericarditis semapv:ManualMappingCuration 2024-04-21 MONDO:0000988 discharging ear skos:exactMatch DOID:10261 otorrhea semapv:ManualMappingCuration 2023-03-17 MONDO:0000992 heart conduction disease skos:exactMatch DOID:10273 heart conduction disease semapv:ManualMappingCuration 2023-03-17 MONDO:0000993 prostate squamous cell carcinoma skos:exactMatch DOID:10287 prostate squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0000995 familial periodic paralysis skos:exactMatch DOID:1029 familial periodic paralysis semapv:ManualMappingCuration 2023-03-17 MONDO:0000996 prostate lymphoma skos:exactMatch DOID:10290 prostate lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001007 chronic meningitis skos:exactMatch DOID:10341 chronic meningitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001014 chronic leukemia skos:exactMatch DOID:1036 chronic leukemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001020 amblyopia skos:exactMatch DOID:10376 amblyopia semapv:ManualMappingCuration 2023-03-17 MONDO:0001023 prolymphocytic leukemia skos:exactMatch DOID:1039 prolymphocytic leukemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001024 pneumonic plague skos:exactMatch DOID:10398 pneumonic plague semapv:ManualMappingCuration 2024-04-21 MONDO:0001028 acute pericementitis skos:exactMatch DOID:10423 acute pericementitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001029 Klippel-Feil syndrome skos:exactMatch DOID:10426 Klippel-Feil syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0001031 purulent acute otitis media skos:exactMatch DOID:10435 purulent acute otitis media semapv:ManualMappingCuration 2024-04-21 MONDO:0001039 tonsillitis skos:exactMatch DOID:10456 tonsillitis semapv:ManualMappingCuration 2023-12-24 MONDO:0001040 nasopharyngitis skos:exactMatch DOID:10460 nasopharyngitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001042 patellar tendinitis skos:exactMatch DOID:10471 patellar tendinitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001045 intestinal atresia skos:exactMatch DOID:10486 intestinal atresia semapv:ManualMappingCuration 2023-03-17 MONDO:0001046 imperforate anus skos:exactMatch DOID:10488 imperforate anus semapv:ManualMappingCuration 2024-06-23 MONDO:0001051 acute otitis externa skos:exactMatch DOID:10518 beach ear semapv:ManualMappingCuration 2024-04-21 MONDO:0001052 chronic fungal otitis externa skos:exactMatch DOID:10519 chronic fungal otitis externa semapv:ManualMappingCuration 2024-04-21 MONDO:0001056 gastric cancer skos:exactMatch DOID:10534 stomach cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001059 gastric lymphoma skos:exactMatch DOID:10540 gastric lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0001063 cardia cancer skos:exactMatch DOID:10548 cardia cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001064 acute eustachian salpingitis skos:exactMatch DOID:10550 acute eustachian salpingitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001074 chronic tic disorder skos:exactMatch DOID:10600 chronic tic disorder semapv:ManualMappingCuration 2024-04-21 MONDO:0001078 tropical sprue skos:exactMatch DOID:10607 tropical sprue semapv:ManualMappingCuration 2023-03-17 MONDO:0001080 acute gonococcal cervicitis skos:exactMatch DOID:10615 acute gonococcal cervicitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001081 acute cervicitis skos:exactMatch DOID:10616 acute cervicitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001082 lymph node cancer skos:exactMatch DOID:10619 lymph node cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch DOID:1062 Fanconi syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0001084 primary optic atrophy skos:exactMatch DOID:10627 primary optic atrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0001085 interstitial nephritis skos:exactMatch DOID:1063 interstitial nephritis semapv:ManualMappingCuration 2023-03-17 MONDO:0001087 schizotypal personality disorder skos:exactMatch DOID:10646 schizotypal personality disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0001090 acute anterolateral myocardial infarction skos:exactMatch DOID:10651 acute anterolateral myocardial infarction semapv:ManualMappingCuration 2024-04-21 MONDO:0001091 lipoma of colon skos:exactMatch DOID:10655 lipoma of colon semapv:ManualMappingCuration 2024-04-21 MONDO:0001092 colon leiomyoma skos:exactMatch DOID:10656 colon leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001093 colonic lymphangioma skos:exactMatch DOID:10657 colonic lymphangioma semapv:ManualMappingCuration 2024-04-21 MONDO:0001096 mediastinum ganglioneuroblastoma skos:exactMatch DOID:10661 mediastinum ganglioneuroblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001104 toxic diffuse goiter skos:exactMatch DOID:10719 toxic diffuse goiter semapv:ManualMappingCuration 2023-03-17 MONDO:0001108 broad ligament malignant neoplasm skos:exactMatch DOID:10744 broad ligament malignant neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0001110 chronic pyelonephritis skos:exactMatch DOID:1076 chronic pyelonephritis semapv:ManualMappingCuration 2023-03-17 MONDO:0001112 bubonic plague skos:exactMatch DOID:10773 bubonic plague semapv:ManualMappingCuration 2024-04-21 MONDO:0001114 bacterial myocarditis skos:exactMatch DOID:10779 septic myocarditis semapv:ManualMappingCuration 2024-04-21 MONDO:0001115 familial polycythemia skos:exactMatch DOID:10780 primary polycythemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001117 methemoglobinemia skos:exactMatch DOID:10783 methemoglobinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001122 chronic maxillary sinusitis skos:exactMatch DOID:10792 chronic maxillary sinusitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001123 chronic sphenoidal sinusitis skos:exactMatch DOID:10793 chronic sphenoidal sinusitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001128 nasal cavity cancer skos:exactMatch DOID:10811 nasal cavity cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001129 nasal cavity olfactory neuroblastoma skos:exactMatch DOID:10812 nasal cavity olfactory neuroblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001130 nasal cavity lymphoma skos:exactMatch DOID:10813 nasal cavity lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001134 essential hypertension skos:exactMatch DOID:10825 essential hypertension semapv:ManualMappingCuration 2023-03-17 MONDO:0001146 fourth cranial nerve palsy skos:exactMatch DOID:10869 fourth cranial nerve palsy semapv:ManualMappingCuration 2023-03-17 MONDO:0001147 meningocele skos:exactMatch DOID:1088 meningocele semapv:ManualMappingCuration 2023-03-17 MONDO:0001149 microcephaly skos:exactMatch DOID:10907 microcephaly semapv:ManualMappingCuration 2023-03-17 MONDO:0001152 amnestic disorder skos:exactMatch DOID:10914 amnestic disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0001157 dependent personality disorder skos:exactMatch DOID:10931 dependent personality disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0001160 dissociative disorder skos:exactMatch DOID:10935 dissociative disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0001161 schizoid personality disorder skos:exactMatch DOID:10936 schizoid personality disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0001162 impulse control disorder skos:exactMatch DOID:10937 impulse control disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0001163 paranoid personality disorder skos:exactMatch DOID:10938 paranoid personality disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0001165 tongue disorder skos:exactMatch DOID:10944 tongue disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001169 spastic monoplegia skos:exactMatch DOID:10968 spastic monoplegia semapv:ManualMappingCuration 2023-03-17 MONDO:0001171 acute salpingo-oophoritis skos:exactMatch DOID:10971 acute salpingo-oophoritis semapv:ManualMappingCuration 2024-04-21 MONDO:0001172 salpingo-oophoritis skos:exactMatch DOID:10972 salpingo-oophoritis semapv:ManualMappingCuration 2024-04-21 MONDO:0001173 acute salpingitis skos:exactMatch DOID:10973 acute salpingitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001174 conjunctival vascular disorder skos:exactMatch DOID:10989 conjunctival vascular disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001182 idiopathic corneal edema skos:exactMatch DOID:11033 idiopathic corneal edema semapv:ManualMappingCuration 2023-03-17 MONDO:0001184 chronic rapidly progressive glomerulonephritis skos:exactMatch DOID:11036 chronic rapidly progressive glomerulonephritis semapv:ManualMappingCuration 2024-04-21 MONDO:0001185 dissociative amnesia skos:exactMatch DOID:11037 dissociative amnesia semapv:ManualMappingCuration 2024-04-21 MONDO:0001187 urinary bladder cancer skos:exactMatch DOID:11054 urinary bladder cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001188 esophagus lymphoma skos:exactMatch DOID:1106 esophagus lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001192 esophageal melanoma skos:exactMatch DOID:1108 esophagus melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001197 qualitative platelet defect skos:exactMatch DOID:11125 qualitative platelet defect semapv:ManualMappingCuration 2023-03-17 MONDO:0001198 acquired thrombocytopenia skos:exactMatch DOID:11126 acquired thrombocytopenia semapv:ManualMappingCuration 2023-03-17 MONDO:0001204 esophagus sarcoma skos:exactMatch DOID:1114 esophagus sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001212 non-suppurative otitis media skos:exactMatch DOID:11180 non-suppurative otitis media semapv:ManualMappingCuration 2023-03-17 MONDO:0001214 acute conjunctivitis skos:exactMatch DOID:11184 acute conjunctivitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001222 congenital T-cell immunodeficiency skos:exactMatch DOID:11200 T cell deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0001227 chronic tympanitis skos:exactMatch DOID:11217 chronic tympanitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001229 small intestine diverticulitis skos:exactMatch DOID:11223 small intestine diverticulitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001230 acute orbital inflammation skos:exactMatch DOID:11230 acute orbital inflammation semapv:ManualMappingCuration 2023-03-17 MONDO:0001235 appendix cancer skos:exactMatch DOID:11239 appendix cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001237 appendix lymphoma skos:exactMatch DOID:11241 appendix lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001240 neonatal anemia skos:exactMatch DOID:11244 neonatal anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001245 microcytic anemia skos:exactMatch DOID:11252 microcytic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001251 chronic apical periodontitis skos:exactMatch DOID:11269 chronic apical periodontitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001256 arteriovenous hemangioma/malformation skos:exactMatch DOID:11294 arteriovenous malformation semapv:ManualMappingCuration 2023-03-17 MONDO:0001259 pituitary gland infarction skos:exactMatch DOID:1130 pituitary infarct semapv:ManualMappingCuration 2023-03-17 MONDO:0001269 scleral disorder skos:exactMatch DOID:11343 scleral disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001275 spinal meningioma skos:exactMatch DOID:1138 spinal meningioma semapv:ManualMappingCuration 2024-04-21 MONDO:0001277 cerebral arteritis skos:exactMatch DOID:11390 cerebral arteritis semapv:ManualMappingCuration 2024-04-21 MONDO:0001279 intraspinal meningioma skos:exactMatch DOID:1140 spinal canal and spinal cord meningioma semapv:ManualMappingCuration 2024-04-21 MONDO:0001280 choroiditis skos:exactMatch DOID:11406 choroiditis semapv:ManualMappingCuration 2023-03-17 MONDO:0001282 fallopian tube endometriosis skos:exactMatch DOID:11424 fallopian tube endometriosis semapv:ManualMappingCuration 2023-03-17 MONDO:0001284 endometriosis of intestine skos:exactMatch DOID:11428 endometriosis of intestine semapv:ManualMappingCuration 2024-04-21 MONDO:0001285 endometriosis of pelvic peritoneum skos:exactMatch DOID:11429 endometriosis of pelvic peritoneum semapv:ManualMappingCuration 2023-03-17 MONDO:0001288 endometriosis of rectovaginal septum and vagina skos:exactMatch DOID:11431 endometriosis of rectovaginal septum and vagina semapv:ManualMappingCuration 2023-03-17 MONDO:0001290 allergic cutaneous vasculitis skos:exactMatch DOID:11450 allergic cutaneous vasculitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001291 brain compression skos:exactMatch DOID:11457 brain compression semapv:ManualMappingCuration 2023-03-17 MONDO:0001294 Horner syndrome skos:exactMatch DOID:11486 Horner's syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0001296 acquired night blindness skos:exactMatch DOID:11491 acquired night blindness semapv:ManualMappingCuration 2023-03-17 MONDO:0001299 diabetic autonomic neuropathy skos:exactMatch DOID:11503 diabetic autonomic neuropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0001300 autonomic neuropathy skos:exactMatch DOID:0060054 autonomic peripheral neuropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0001300 autonomic neuropathy skos:exactMatch DOID:11504 autonomic neuropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0001302 hypertensive heart disease skos:exactMatch DOID:11516 hypertensive heart disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001308 corneal deposit skos:exactMatch DOID:11547 corneal deposit semapv:ManualMappingCuration 2023-03-17 MONDO:0001309 oculomotor nerve paralysis skos:exactMatch DOID:11550 oculomotor nerve paralysis semapv:ManualMappingCuration 2023-03-17 MONDO:0001314 chondrocalcinosis skos:exactMatch DOID:1156 chondrocalcinosis semapv:ManualMappingCuration 2023-03-17 MONDO:0001316 streptococcal meningitis skos:exactMatch DOID:11574 streptococcal meningitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001318 functional gastric disease skos:exactMatch DOID:1159 functional gastric disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001322 pericardium cancer skos:exactMatch DOID:116 pericardium cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001325 penile cancer skos:exactMatch DOID:11615 penile cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch DOID:11633 thyroid hormone resistance syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0001330 presbyopia skos:exactMatch DOID:11638 presbyopia semapv:ManualMappingCuration 2023-03-17 MONDO:0001331 conjunctival deposit skos:exactMatch DOID:11653 conjunctival deposit semapv:ManualMappingCuration 2023-03-17 MONDO:0001332 palindromic rheumatism skos:exactMatch DOID:1166 palindromic rheumatism semapv:ManualMappingCuration 2023-03-17 MONDO:0001334 hypertrichosis of eyelid skos:exactMatch DOID:11669 hypertrichosis of eyelid semapv:ManualMappingCuration 2023-03-17 MONDO:0001335 hypotrichosis of eyelid skos:exactMatch DOID:11671 hypotrichosis of eyelid semapv:ManualMappingCuration 2024-04-21 MONDO:0001336 familial hyperlipidemia skos:exactMatch DOID:1168 familial hyperlipidemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001340 heart cancer skos:exactMatch DOID:117 heart cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001342 dysgammaglobulinemia skos:exactMatch DOID:11702 dysgammaglobulinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch DOID:11727 facioscapulohumeral muscular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0001350 parametrium malignant neoplasm skos:exactMatch DOID:11746 parametrium malignant neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0001351 uterine adnexa cancer skos:exactMatch DOID:11747 uterine adnexa cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0001355 ocular siderosis skos:exactMatch DOID:11754 siderosis of eye semapv:ManualMappingCuration 2024-04-21 MONDO:0001357 hypochromic anemia skos:exactMatch DOID:11759 hypochromic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001369 chronic laryngitis skos:exactMatch DOID:11797 chronic laryngitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001370 pericardial effusion skos:exactMatch DOID:118 pericardial effusion semapv:ManualMappingCuration 2023-03-17 MONDO:0001374 bladder sarcoma skos:exactMatch DOID:11812 bladder sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0001377 vitreous syneresis skos:exactMatch DOID:11816 vitreous syneresis semapv:ManualMappingCuration 2023-03-17 MONDO:0001378 urachus cancer skos:exactMatch DOID:11817 urachus cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001381 bladder lymphoma skos:exactMatch DOID:11821 bladder lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001382 hepatorenal syndrome skos:exactMatch DOID:11823 hepatorenal syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0001387 penile sarcoma skos:exactMatch DOID:11838 penis sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001388 glans penis cancer skos:exactMatch DOID:11839 glans penis cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0001398 ureter benign neoplasm skos:exactMatch DOID:11885 ureteral benign neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0001399 ureter leiomyoma skos:exactMatch DOID:11887 ureter leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001400 schwannoma of ureter skos:exactMatch DOID:11888 schwannoma of ureter semapv:ManualMappingCuration 2024-04-21 MONDO:0001402 vaginal cancer skos:exactMatch DOID:119 vaginal cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001407 tracheal cancer skos:exactMatch DOID:11920 tracheal cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001409 esophagitis skos:exactMatch DOID:11963 esophagitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001410 postmenopausal atrophic vaginitis skos:exactMatch DOID:11968 postmenopausal atrophic vaginitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001414 osteopoikilosis skos:exactMatch DOID:11991 Osteopoikilosis semapv:ManualMappingCuration 2023-03-17 MONDO:0001417 tracheal lymphoma skos:exactMatch DOID:12001 tracheal lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001418 trachea sarcoma skos:exactMatch DOID:12002 trachea sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001420 trigeminal nerve neoplasm skos:exactMatch DOID:1201 trigeminal nerve neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0001421 frontal lobe neoplasm skos:exactMatch DOID:12016 frontal lobe neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0001422 primary aldosteronism skos:exactMatch DOID:12028 Conn's syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0001423 drug-induced mental disorder skos:exactMatch DOID:1203 drug-induced mental disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0001429 transient arthropathy skos:exactMatch DOID:12084 transient arthropathy semapv:ManualMappingCuration 2024-04-21 MONDO:0001433 vaginal disorder skos:exactMatch DOID:121 vaginal disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001434 inflammatory spondylopathy skos:exactMatch DOID:12105 inflammatory spondylopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0001436 hemosiderosis skos:exactMatch DOID:12119 hemosiderosis semapv:ManualMappingCuration 2023-03-17 MONDO:0001437 pulmonary alveolar proteinosis skos:exactMatch DOID:12120 pulmonary alveolar proteinosis semapv:ManualMappingCuration 2023-03-17 MONDO:0001438 postinflammatory pulmonary fibrosis skos:exactMatch DOID:12123 postinflammatory pulmonary fibrosis semapv:ManualMappingCuration 2023-03-17 MONDO:0001444 Chagas disease skos:exactMatch DOID:12140 Chagas disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001458 ulnar nerve lesion skos:exactMatch DOID:12168 ulnar nerve lesion semapv:ManualMappingCuration 2023-03-17 MONDO:0001459 radial neuropathy skos:exactMatch DOID:12171 radial neuropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0001464 sigmoid colon cancer skos:exactMatch DOID:12192 sigmoid colon cancer semapv:ManualMappingCuration 2023-11-19 MONDO:0001468 synovial plica syndrome skos:exactMatch DOID:12225 Plica syndrome semapv:ManualMappingCuration 2023-11-19 MONDO:0001474 chronic salpingo-oophoritis skos:exactMatch DOID:12265 chronic salpingo-oophoritis semapv:ManualMappingCuration 2024-04-21 MONDO:0001475 neutropenia skos:exactMatch DOID:1227 neutropenia semapv:ManualMappingCuration 2023-03-17 MONDO:0001476 coloboma skos:exactMatch DOID:12270 coloboma semapv:ManualMappingCuration 2023-03-17 MONDO:0001487 intrahepatic bile duct cancer skos:exactMatch DOID:12298 intrahepatic gall duct cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001493 chronic pulmonary heart disease skos:exactMatch DOID:12326 chronic pulmonary heart disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001498 varicocele skos:exactMatch DOID:12337 varicocele semapv:ManualMappingCuration 2023-03-17 MONDO:0001499 retroperitoneal lymphoma skos:exactMatch DOID:12339 retroperitoneal lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001501 retroperitoneal sarcoma skos:exactMatch DOID:12341 retroperitoneal sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001502 retroperitoneum carcinoma skos:exactMatch DOID:12342 retroperitoneum carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0001506 prostatocystitis skos:exactMatch DOID:12355 prostatocystitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001507 viral labyrinthitis skos:exactMatch DOID:12357 viral labyrinthitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001515 corneal degeneration skos:exactMatch DOID:1237 corneal degeneration semapv:ManualMappingCuration 2023-03-17 MONDO:0001519 entropion skos:exactMatch DOID:12397 entropion semapv:ManualMappingCuration 2023-03-17 MONDO:0001528 vulva cancer skos:exactMatch DOID:1245 vulva cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001530 secondary hyperparathyroidism of renal origin skos:exactMatch DOID:12465 secondary hyperparathyroidism of renal origin semapv:ManualMappingCuration 2023-03-17 MONDO:0001536 vaginal leiomyoma skos:exactMatch DOID:125 vagina leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001538 retinal ischemia skos:exactMatch DOID:12510 retinal ischemia semapv:ManualMappingCuration 2024-04-21 MONDO:0001539 retinal perforation skos:exactMatch DOID:12514 retinal perforation semapv:ManualMappingCuration 2023-03-17 MONDO:0001543 lesion of sciatic nerve skos:exactMatch DOID:12528 lesion of sciatic nerve semapv:ManualMappingCuration 2023-03-17 MONDO:0001549 hemolytic-uremic syndrome skos:exactMatch DOID:12554 hemolytic-uremic syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0001551 ulceration of vulva skos:exactMatch DOID:12566 ulceration of vulva semapv:ManualMappingCuration 2023-03-17 MONDO:0001554 phacogenic glaucoma skos:exactMatch DOID:12571 phacogenic glaucoma semapv:ManualMappingCuration 2023-03-17 MONDO:0001557 olecranon bursitis skos:exactMatch DOID:12581 olecranon bursitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001563 vestibulocochlear nerve disorder skos:exactMatch DOID:12657 vestibulocochlear nerve disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001566 hypercalcemia disease skos:exactMatch DOID:12678 hypercalcemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001567 nephrocalcinosis skos:exactMatch DOID:12679 nephrocalcinosis semapv:ManualMappingCuration 2023-03-17 MONDO:0001572 leiomyoma skos:exactMatch DOID:127 leiomyoma semapv:ManualMappingCuration 2023-03-17 MONDO:0001574 capillary disorder skos:exactMatch DOID:1271 capillary disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001575 chronic gonococcal salpingitis skos:exactMatch DOID:12718 chronic gonococcal salpingitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001576 telangiectasis skos:exactMatch DOID:1272 telangiectasis semapv:ManualMappingCuration 2023-03-17 MONDO:0001580 lacrimal duct cancer skos:exactMatch DOID:12756 lacrimal duct cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001583 diabetic polyneuropathy skos:exactMatch DOID:12785 diabetic polyneuropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0001586 mucopolysaccharidosis type 1 skos:exactMatch DOID:12802 mucopolysaccharidosis I semapv:ManualMappingCuration 2023-03-17 MONDO:0001592 prolapse of female genital organ skos:exactMatch DOID:1284 prolapse of female genital organ semapv:ManualMappingCuration 2023-03-17 MONDO:0001597 submandibular gland disorder skos:exactMatch DOID:12897 submandibular gland disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001604 lagophthalmos skos:exactMatch DOID:12959 lagophthalmos semapv:ManualMappingCuration 2023-03-17 MONDO:0001606 central nervous system leukemia skos:exactMatch DOID:12969 central nervous system leukemia semapv:ManualMappingCuration 2024-04-21 MONDO:0001615 epidemic keratoconjunctivitis skos:exactMatch DOID:13014 shipyard eye semapv:ManualMappingCuration 2024-04-21 MONDO:0001618 balanoposthitis skos:exactMatch DOID:13031 balanoposthitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001624 acute sphenoidal sinusitis skos:exactMatch DOID:13046 acute sphenoidal sinusitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001627 dementia skos:exactMatch DOID:1307 dementia semapv:ManualMappingCuration 2023-03-17 MONDO:0001628 tinea unguium skos:exactMatch DOID:13074 tinea unguium semapv:ManualMappingCuration 2024-04-21 MONDO:0001634 bladder leiomyoma skos:exactMatch DOID:13109 bladder leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001639 deficiency anemia skos:exactMatch DOID:13121 deficiency anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001640 gonococcal spondylitis skos:exactMatch DOID:13127 gonococcal spondylitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001641 severe pre-eclampsia skos:exactMatch DOID:13129 severe pre-eclampsia semapv:ManualMappingCuration 2023-03-17 MONDO:0001644 acute proliferative glomerulonephritis skos:exactMatch DOID:13138 acute proliferative glomerulonephritis semapv:ManualMappingCuration 2023-11-19 MONDO:0001645 crescentic glomerulonephritis skos:exactMatch DOID:13139 crescentic glomerulonephritis semapv:ManualMappingCuration 2023-11-19 MONDO:0001649 fungal esophagitis skos:exactMatch DOID:13147 fungal esophagitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001650 acute cystitis skos:exactMatch DOID:13148 acute cystitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001651 scrotum squamous cell carcinoma skos:exactMatch DOID:13159 scrotum squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001652 scrotum melanoma skos:exactMatch DOID:13160 scrotum melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001657 brain cancer skos:exactMatch DOID:1319 brain cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001658 nontoxic goiter skos:exactMatch DOID:13195 nontoxic goiter semapv:ManualMappingCuration 2023-03-17 MONDO:0001672 bronchus cancer skos:exactMatch DOID:1325 bronchus cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001673 diarrheal disease skos:exactMatch DOID:13250 diarrhea semapv:ManualMappingCuration 2023-03-17 MONDO:0001674 diverticulitis of colon skos:exactMatch DOID:13254 diverticulitis of colon semapv:ManualMappingCuration 2023-03-17 MONDO:0001676 erythropoietic protoporphyria skos:exactMatch DOID:13270 erythropoietic protoporphyria semapv:ManualMappingCuration 2023-03-17 MONDO:0001678 intestinal tuberculosis skos:exactMatch DOID:13282 intestinal tuberculosis semapv:ManualMappingCuration 2024-04-21 MONDO:0001680 vaginal mullerian papilloma skos:exactMatch DOID:133 vaginal Mullerian papilloma semapv:ManualMappingCuration 2023-03-17 MONDO:0001684 exocrine pancreatic insufficiency skos:exactMatch DOID:13316 exocrine pancreatic insufficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0001697 reading disorder skos:exactMatch DOID:13365 reading disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0001699 tinea manuum skos:exactMatch DOID:13369 tinea manuum semapv:ManualMappingCuration 2024-04-21 MONDO:0001700 megaloblastic anemia skos:exactMatch DOID:13382 megaloblastic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001701 gastrointestinal anthrax skos:exactMatch DOID:13386 gastrointestinal anthrax semapv:ManualMappingCuration 2024-04-21 MONDO:0001703 color vision disorder skos:exactMatch DOID:13399 color blindness semapv:ManualMappingCuration 2023-03-17 MONDO:0001704 vaginal glandular neoplasm skos:exactMatch DOID:134 vaginal glandular tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0001705 pure red-cell aplasia skos:exactMatch DOID:1340 pure red-cell aplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0001706 cerebral sarcoidosis skos:exactMatch DOID:13403 neurosarcoidosis semapv:ManualMappingCuration 2024-04-21 MONDO:0001707 cardiac sarcoidosis skos:exactMatch DOID:13405 cardiac sarcoidosis semapv:ManualMappingCuration 2024-04-21 MONDO:0001709 hypercalcemic sarcoidosis skos:exactMatch DOID:13407 hypercalcemic sarcoidosis semapv:ManualMappingCuration 2024-04-21 MONDO:0001713 inherited aplastic anemia skos:exactMatch DOID:1342 congenital hypoplastic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001718 scleritis skos:exactMatch DOID:13452 scleritis semapv:ManualMappingCuration 2023-03-17 MONDO:0001719 gonococcal bursitis skos:exactMatch DOID:13453 gonococcal bursitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001720 gonococcal synovitis skos:exactMatch DOID:13454 gonococcal synovitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001721 urethral intrinsic sphincter deficiency skos:exactMatch DOID:13461 urethral intrinsic sphincter deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0001724 supraglottis cancer skos:exactMatch DOID:13476 supraglottis cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001730 urethral syndrome skos:exactMatch DOID:13498 urethral syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0001734 tuberous sclerosis skos:exactMatch DOID:13515 tuberous sclerosis semapv:ManualMappingCuration 2023-03-17 MONDO:0001740 cornea squamous cell carcinoma skos:exactMatch DOID:13538 cornea squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001743 paranasal sinus lymphoma skos:exactMatch DOID:1355 paranasal sinus lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001744 angle-closure glaucoma skos:exactMatch DOID:13550 angle-closure glaucoma semapv:ManualMappingCuration 2023-03-17 MONDO:0001747 tibial collateral ligament bursitis skos:exactMatch DOID:13566 tibial collateral ligament bursitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001748 maxillary sinus carcinoma skos:exactMatch DOID:1357 maxillary sinus cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001749 cortical senile cataract skos:exactMatch DOID:13574 cortical senile cataract semapv:ManualMappingCuration 2023-11-19 MONDO:0001750 non-renal secondary hyperparathyroidism skos:exactMatch DOID:13575 non-renal secondary hyperparathyroidism semapv:ManualMappingCuration 2023-03-17 MONDO:0001751 cholestasis skos:exactMatch DOID:13580 cholestasis semapv:ManualMappingCuration 2023-03-17 MONDO:0001758 paranasal sinus sarcoma skos:exactMatch DOID:1362 paranasal sinus sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001760 photokeratitis skos:exactMatch DOID:13626 photokeratitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001763 ethmoid sinus cancer skos:exactMatch DOID:1363 ethmoid sinus cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001764 ethmoidal sinus neoplasm skos:exactMatch DOID:1364 ethmoidal sinus benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0001770 gastrin secretion abnormality skos:exactMatch DOID:13656 gastrin secretion abnormality semapv:ManualMappingCuration 2023-03-17 MONDO:0001776 prostate calculus skos:exactMatch DOID:13689 prostate calculus semapv:ManualMappingCuration 2024-04-21 MONDO:0001777 acute gonococcal cystitis skos:exactMatch DOID:13690 acute gonococcal cystitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001779 vaginal squamous papilloma skos:exactMatch DOID:137 vaginal squamous papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0001780 premature ejaculation skos:exactMatch DOID:13709 premature ejaculation semapv:ManualMappingCuration 2023-03-17 MONDO:0001784 malignant renovascular hypertension skos:exactMatch DOID:13730 malignant renovascular hypertension semapv:ManualMappingCuration 2023-03-17 MONDO:0001785 malignant secondary hypertension skos:exactMatch DOID:13731 malignant secondary hypertension semapv:ManualMappingCuration 2023-03-17 MONDO:0001790 spinal cord lipoma skos:exactMatch DOID:13743 spinal cord lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001798 hypermobility syndrome skos:exactMatch DOID:13781 hypermobility syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0001806 vaginal squamous tumor skos:exactMatch DOID:138 vaginal squamous tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0001812 parasitic eyelid infestation skos:exactMatch DOID:13823 parasitic eyelid infestation semapv:ManualMappingCuration 2023-03-17 MONDO:0001815 extrapyramidal and movement disease skos:exactMatch DOID:13839 extrapyramidal and movement disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001816 scleroperikeratitis skos:exactMatch DOID:13861 scleroperikeratitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001817 acute closed-angle glaucoma skos:exactMatch DOID:13862 acute closed-angle glaucoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001822 hypolipoproteinemia skos:exactMatch DOID:1387 hypolipoproteinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001823 sick sinus syndrome skos:exactMatch DOID:13884 sick sinus syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0001828 acquired color blindness skos:exactMatch DOID:13912 acquired color blindness semapv:ManualMappingCuration 2023-03-17 MONDO:0001829 lumbosacral plexus lesion skos:exactMatch DOID:13913 lumbosacral plexus lesion semapv:ManualMappingCuration 2023-03-17 MONDO:0001832 bacterial esophagitis skos:exactMatch DOID:13921 bacterial esophagitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001834 visual pathway disorder skos:exactMatch DOID:1393 visual pathway disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001835 facial paralysis skos:exactMatch DOID:13934 facial paralysis semapv:ManualMappingCuration 2023-03-17 MONDO:0001836 amenorrhea skos:exactMatch DOID:13938 amenorrhea semapv:ManualMappingCuration 2023-11-19 MONDO:0001837 acute gonococcal salpingitis skos:exactMatch DOID:13942 acute gonococcal salpingitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001838 acute gonococcal prostatitis skos:exactMatch DOID:13943 acute gonococcal prostatitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001841 uterine corpus epithelioid leiomyoma skos:exactMatch DOID:13951 uterine corpus epithelioid leiomyoma semapv:ManualMappingCuration 2023-03-17 MONDO:0001847 nuclear senile cataract skos:exactMatch DOID:13963 nuclear senile cataract semapv:ManualMappingCuration 2023-03-17 MONDO:0001852 small intestine lymphoma skos:exactMatch DOID:13996 small intestine lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0001858 Tietze syndrome skos:exactMatch DOID:14021 Tietze's syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0001859 algoneurodystrophy skos:exactMatch DOID:14022 algoneurodystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0001876 renal artery atheroma skos:exactMatch DOID:14092 renal artery atheroma semapv:ManualMappingCuration 2024-04-21 MONDO:0001878 acquired hypertrophic pyloric stenosis skos:exactMatch DOID:14099 acquired gastric outlet stenosis semapv:ManualMappingCuration 2023-03-17 MONDO:0001879 anus cancer skos:exactMatch DOID:14110 anus cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0001884 abducens nerve neoplasm skos:exactMatch DOID:14125 abducens nerve neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0001888 anus lymphoma skos:exactMatch DOID:14139 anus lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001892 spinal cord lymphoma skos:exactMatch DOID:14150 spinal cord lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001893 spinal cord melanoma skos:exactMatch DOID:14151 spinal cord melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001894 spinal cord sarcoma skos:exactMatch DOID:14152 spinal cord sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001896 obstructive hydrocephalus skos:exactMatch DOID:14159 obstructive hydrocephalus semapv:ManualMappingCuration 2023-03-17 MONDO:0001898 optic choroid disorder skos:exactMatch DOID:1417 choroid disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001902 congenital agammaglobulinemia skos:exactMatch DOID:14177 congenital hypogammaglobulinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0001903 calcific tendinitis skos:exactMatch DOID:14181 calcific tendinitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001907 adult dermatomyositis skos:exactMatch DOID:14202 adult dermatomyositis semapv:ManualMappingCuration 2024-04-21 MONDO:0001909 renal tubular acidosis skos:exactMatch DOID:14219 renal tubular acidosis semapv:ManualMappingCuration 2023-03-17 MONDO:0001917 chronic perichondritis of pinna skos:exactMatch DOID:14243 chronic perichondritis of pinna semapv:ManualMappingCuration 2024-04-21 MONDO:0001920 chronic purulent otitis media skos:exactMatch DOID:14247 chronic purulent otitis media semapv:ManualMappingCuration 2024-04-21 MONDO:0001926 ureteral disorder skos:exactMatch DOID:1426 ureteral disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001927 pulmonary valve insufficiency skos:exactMatch DOID:14265 pulmonary valve insufficiency semapv:ManualMappingCuration 2024-06-23 MONDO:0001930 acute cholangitis skos:exactMatch DOID:14271 acute cholangitis semapv:ManualMappingCuration 2024-04-21 MONDO:0001933 endocrine pancreas disorder skos:exactMatch DOID:1428 endocrine pancreas disease semapv:ManualMappingCuration 2023-03-17 MONDO:0001938 vulvar dystrophy skos:exactMatch DOID:14292 vulvar dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0001941 blindness (disorder) skos:exactMatch DOID:1432 blindness semapv:ManualMappingCuration 2023-03-17 MONDO:0001949 acute thyroiditis skos:exactMatch DOID:14353 acute thyroiditis semapv:ManualMappingCuration 2023-03-17 MONDO:0001955 protozoal dysentery skos:exactMatch DOID:14397 protozoal dysentery semapv:ManualMappingCuration 2023-03-17 MONDO:0001966 chronic closed-angle glaucoma skos:exactMatch DOID:14445 chronic closed-angle glaucoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001967 gonadal dysgenesis skos:exactMatch DOID:14447 gonadal dysgenesis semapv:ManualMappingCuration 2023-03-17 MONDO:0001977 ureteral lymphoma skos:exactMatch DOID:14489 ureteral lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0001989 atrophic glossitis skos:exactMatch DOID:1453 atrophic glossitis semapv:ManualMappingCuration 2023-03-17 MONDO:0001991 malignant cardiac germ cell tumor skos:exactMatch DOID:14535 malignant cardiac germ cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0001999 primary pulmonary hypertension skos:exactMatch DOID:14557 primary pulmonary hypertension semapv:ManualMappingCuration 2023-03-17 MONDO:0002000 anaerobic meningitis skos:exactMatch DOID:14559 anaerobic meningitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002004 atheroembolism of kidney skos:exactMatch DOID:1460 atheroembolism of kidney semapv:ManualMappingCuration 2024-04-21 MONDO:0002009 major depressive disorder skos:exactMatch DOID:1470 major depressive disorder semapv:ManualMappingCuration 2024-08-18 MONDO:0002012 methylmalonic acidemia skos:exactMatch DOID:14749 methylmalonic acidemia semapv:ManualMappingCuration 2023-03-17 MONDO:0002013 lymphangioma skos:exactMatch DOID:1475 lymphangioma semapv:ManualMappingCuration 2023-03-17 MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type skos:exactMatch DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome semapv:ManualMappingCuration 2024-04-21 MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch DOID:14784 olivopontocerebellar atrophy semapv:ManualMappingCuration 2023-11-19 MONDO:0002025 psychiatric disorder skos:exactMatch DOID:150 disease of mental health semapv:ManualMappingCuration 2023-03-17 MONDO:0002026 candidiasis skos:exactMatch DOID:1508 candidiasis semapv:ManualMappingCuration 2023-03-17 MONDO:0002028 personality disorder skos:exactMatch DOID:1510 personality disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0002029 chronic gonorrhea of cervix skos:exactMatch DOID:1512 chronic gonorrhea of cervix semapv:ManualMappingCuration 2024-04-21 MONDO:0002030 chronic cervicitis skos:exactMatch DOID:1513 chronic cervicitis semapv:ManualMappingCuration 2024-04-21 MONDO:0002031 cecal disorder skos:exactMatch DOID:1518 cecal disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002033 cecum cancer skos:exactMatch DOID:1521 cecum cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002034 cecum lymphoma skos:exactMatch DOID:1522 cecum lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002035 colon lymphoma skos:exactMatch DOID:1523 colon lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002036 penile disorder skos:exactMatch DOID:1529 penile disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002037 pleural disorder skos:exactMatch DOID:1532 pleural disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002038 head and neck carcinoma skos:exactMatch DOID:1542 head and neck carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002039 cognitive disorder skos:exactMatch DOID:1561 cognitive disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0002040 dermatomycosis skos:exactMatch DOID:1563 dermatomycosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002041 fungal infectious disease skos:exactMatch DOID:1564 fungal infectious disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002043 ectropion skos:exactMatch DOID:1570 ectropion semapv:ManualMappingCuration 2023-03-17 MONDO:0002045 communicating hydrocephalus skos:exactMatch DOID:1573 communicating hydrocephalus semapv:ManualMappingCuration 2023-03-17 MONDO:0002046 alcohol abuse skos:exactMatch DOID:1574 alcohol use disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0002050 depressive disorder skos:exactMatch DOID:1596 depressive disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0002052 lymphadenitis skos:exactMatch DOID:1602 lymphadenitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002057 breast leiomyoma skos:exactMatch DOID:1623 breast leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002058 breast adenoma skos:exactMatch DOID:1625 breast adenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002060 intraductal papilloma skos:exactMatch DOID:1627 intraductal papilloma semapv:ManualMappingCuration 2023-03-17 MONDO:0002061 intraductal papillary breast neoplasm skos:exactMatch DOID:1628 intraductal papillary breast neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0002070 ventricular septal defect skos:exactMatch DOID:1657 ventricular septal defect semapv:ManualMappingCuration 2023-03-17 MONDO:0002071 supratentorial cancer skos:exactMatch DOID:1659 supratentorial cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch DOID:1660 malignant pineal area germ cell neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0002076 pneumothorax skos:exactMatch DOID:1673 pneumothorax semapv:ManualMappingCuration 2023-03-17 MONDO:0002078 heart septal defect skos:exactMatch DOID:1681 heart septal defect semapv:ManualMappingCuration 2023-03-17 MONDO:0002083 Richter syndrome skos:exactMatch DOID:1703 Richter's syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0002087 peritoneum cancer skos:exactMatch DOID:1725 peritoneum cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002089 retinal vascular occlusion skos:exactMatch DOID:1729 retinal vascular occlusion semapv:ManualMappingCuration 2023-03-17 MONDO:0002090 eccrine sweat gland neoplasm skos:exactMatch DOID:173 eccrine sweat gland neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002092 small intestine leiomyoma skos:exactMatch DOID:1738 small intestine leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002093 acanthoma skos:exactMatch DOID:174 acanthoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002095 vascular cancer skos:exactMatch DOID:175 vascular cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002100 cardiovascular cancer skos:exactMatch DOID:176 cardiovascular cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002101 facial nerve neoplasm skos:exactMatch DOID:1760 facial nerve neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0002102 cheilitis skos:exactMatch DOID:1762 cheilitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002108 thyroid cancer skos:exactMatch DOID:1781 thyroid cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002112 benign peritoneal mesothelioma skos:exactMatch DOID:1789 benign peritoneal mesothelioma semapv:ManualMappingCuration 2024-04-21 MONDO:0002113 peritoneal carcinoma skos:exactMatch DOID:1791 peritoneal carcinoma semapv:ManualMappingCuration 2023-08-20 MONDO:0002114 pancreas lymphoma skos:exactMatch DOID:1792 pancreas lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002116 malignant exocrine pancreas neoplasm skos:exactMatch DOID:1795 malignant exocrine pancreas neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002117 pancreas sarcoma skos:exactMatch DOID:1796 pancreas sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002120 neuroendocrine carcinoma skos:exactMatch DOID:1800 neuroendocrine carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002122 neuritis skos:exactMatch DOID:1803 neuritis semapv:ManualMappingCuration 2023-03-17 MONDO:0002123 calcinosis skos:exactMatch DOID:182 calcinosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002132 skull cancer skos:exactMatch DOID:1863 skull cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002133 chronic rheumatic pericarditis skos:exactMatch DOID:1869 chronic rheumatic pericarditis semapv:ManualMappingCuration 2024-04-21 MONDO:0002134 physiological sexual disorder skos:exactMatch DOID:1876 sexual dysfunction semapv:ManualMappingCuration 2023-03-17 MONDO:0002135 optic nerve disorder skos:exactMatch DOID:1891 optic nerve disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002137 noninfectious dermatoses of eyelid skos:exactMatch DOID:1894 noninfectious dermatoses of eyelid semapv:ManualMappingCuration 2024-04-21 MONDO:0002138 allergic contact dermatitis of eyelid skos:exactMatch DOID:1895 allergic contact dermatitis of eyelid semapv:ManualMappingCuration 2024-04-21 MONDO:0002140 vagina sarcoma skos:exactMatch DOID:1901 vagina sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002143 vaginal yolk sac tumor skos:exactMatch DOID:1910 vaginal yolk sac tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002145 disorder of sexual differentiation skos:exactMatch DOID:1923 disorder of sexual development semapv:ManualMappingCuration 2023-03-17 MONDO:0002146 hypogonadism skos:exactMatch DOID:1924 hypogonadism semapv:ManualMappingCuration 2023-03-17 MONDO:0002149 reproductive system cancer skos:exactMatch DOID:193 reproductive organ cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002150 hypothalamic disorder skos:exactMatch DOID:1931 hypothalamic disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002158 fallopian tube cancer skos:exactMatch DOID:1964 fallopian tube cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002159 fallopian tube leiomyosarcoma skos:exactMatch DOID:1965 fallopian tube leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002162 fallopian tube adenosarcoma skos:exactMatch DOID:1973 fallopian tube adenosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002163 thymus lipoma skos:exactMatch DOID:1975 thymus lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002165 rectal neoplasm skos:exactMatch DOID:1984 rectal benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002166 rectum lymphoma skos:exactMatch DOID:1988 rectum lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002167 rectum malignant melanoma skos:exactMatch DOID:1992 rectum malignant melanoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002168 rectum sarcoma skos:exactMatch DOID:1995 rectum sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002170 chronic eustachian salpingitis skos:exactMatch DOID:1999 chronic eustachian salpingitis semapv:ManualMappingCuration 2024-04-21 MONDO:0002171 giant cell tumor skos:exactMatch DOID:200 benign giant cell tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0002172 otosalpingitis skos:exactMatch DOID:2000 otosalpingitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002175 degeneration of macula and posterior pole skos:exactMatch DOID:2007 degeneration of macula and posterior pole semapv:ManualMappingCuration 2023-03-17 MONDO:0002177 hyperinsulinism skos:exactMatch DOID:2018 hyperinsulinism semapv:ManualMappingCuration 2023-03-17 MONDO:0002178 placenta cancer skos:exactMatch DOID:2021 placenta cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002181 exostosis skos:exactMatch DOID:203 exostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002182 communication disorder skos:exactMatch DOID:2033 communication disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0002185 hyperostosis skos:exactMatch DOID:205 hyperostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002186 acute maxillary sinusitis skos:exactMatch DOID:2050 acute maxillary sinusitis semapv:ManualMappingCuration 2024-04-21 MONDO:0002187 vulvar disease skos:exactMatch DOID:2059 vulvar disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002190 vulvar syringoma skos:exactMatch DOID:2064 vulvar syringoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002191 syringoma skos:exactMatch DOID:2065 syringoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002192 vulvar angiokeratoma skos:exactMatch DOID:2066 vulvar angiokeratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002193 Bartholin gland benign neoplasm skos:exactMatch DOID:2068 Bartholin's gland benign neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0002194 vestibular papilloma skos:exactMatch DOID:2071 vulvar squamous papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0002195 vulvar squamous neoplasm skos:exactMatch DOID:2072 vulvar squamous tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0002198 vulvar glandular neoplasm skos:exactMatch DOID:2076 vulvar glandular tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002201 vulvar trichoepithelioma skos:exactMatch DOID:2080 vulvar trichoepithelioma semapv:ManualMappingCuration 2024-04-21 MONDO:0002203 constipation disorder skos:exactMatch DOID:2089 constipation semapv:ManualMappingCuration 2023-03-17 MONDO:0002204 transient arthritis skos:exactMatch DOID:2092 transient arthritis semapv:ManualMappingCuration 2024-04-21 MONDO:0002205 vulvar melanoma skos:exactMatch DOID:2093 vulvar melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002206 sweat gland cancer skos:exactMatch DOID:2095 sweat gland cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002207 vulval Paget disease skos:exactMatch DOID:2097 vulval Paget's disease semapv:ManualMappingCuration 2024-04-21 MONDO:0002211 B cell deficiency skos:exactMatch DOID:2115 B cell deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0002214 brain germinoma skos:exactMatch DOID:2127 brain germinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002216 brain sarcoma skos:exactMatch DOID:2132 brain sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002217 central nervous system sarcoma skos:exactMatch DOID:2133 central nervous system sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002218 temporal lobe cancer skos:exactMatch DOID:2135 temporal lobe neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0002220 tooth hard tissue disease skos:exactMatch DOID:214 teeth hard tissue disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002221 urethral urothelial papilloma skos:exactMatch DOID:2140 urethral urothelial papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0002222 urethra leiomyoma skos:exactMatch DOID:2142 urethra leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002223 ovarian malignant mesothelioma skos:exactMatch DOID:2143 ovarian malignant mesothelioma semapv:ManualMappingCuration 2024-04-21 MONDO:0002225 ovarian sarcoma skos:exactMatch DOID:2146 ovary sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002226 tuberculous oophoritis skos:exactMatch DOID:2148 tuberculous oophoritis semapv:ManualMappingCuration 2024-04-21 MONDO:0002227 ovarian lymphoma skos:exactMatch DOID:2150 ovarian lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002229 ovarian epithelial tumor skos:exactMatch DOID:2152 ovary epithelial cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002230 ovarian Wilms tumor skos:exactMatch DOID:2153 ovarian Wilms' cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0002232 nasal cavity disorder skos:exactMatch DOID:2163 nasal cavity disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002233 enamel caries skos:exactMatch DOID:217 enamel caries semapv:ManualMappingCuration 2023-03-17 MONDO:0002234 vaginitis skos:exactMatch DOID:2170 vaginitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002236 ocular cancer skos:exactMatch DOID:2174 ocular cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002238 ascending colon cancer skos:exactMatch DOID:218 ascending colon cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0002240 acute perichondritis of pinna skos:exactMatch DOID:221 acute perichondritis of pinna semapv:ManualMappingCuration 2024-04-21 MONDO:0002243 hemorrhagic disease skos:exactMatch DOID:2213 hemorrhagic disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002246 perichondritis of auricle skos:exactMatch DOID:222 perichondritis of auricle semapv:ManualMappingCuration 2023-03-17 MONDO:0002249 thrombocytosis disease skos:exactMatch DOID:2228 thrombocytosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002253 spondylosis skos:exactMatch DOID:2247 spondylosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002254 syndromic disease skos:exactMatch DOID:225 syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0002256 cervix disorder skos:exactMatch DOID:2253 cervix disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002257 ankylosis skos:exactMatch DOID:227 ankylosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002258 pharyngitis skos:exactMatch DOID:2275 pharyngitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002259 gonadal disorder skos:exactMatch DOID:2277 gonadal disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002260 hidradenitis skos:exactMatch DOID:2282 hidradenitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002262 capillary lymphangioma skos:exactMatch DOID:2286 capillary lymphangioma semapv:ManualMappingCuration 2024-04-21 MONDO:0002265 stereotypic movement disorder skos:exactMatch DOID:2303 stereotypic movement disorder semapv:ManualMappingCuration 2023-11-19 MONDO:0002266 malt worker's lung skos:exactMatch DOID:2314 malt worker's lung semapv:ManualMappingCuration 2024-04-21 MONDO:0002270 viral gastritis skos:exactMatch DOID:2327 viral gastritis semapv:ManualMappingCuration 2024-04-21 MONDO:0002273 plasma protein metabolism disease skos:exactMatch DOID:2345 plasma protein metabolism disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002277 arteriosclerosis disorder skos:exactMatch DOID:2348 arteriosclerotic cardiovascular disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002277 arteriosclerosis disorder skos:exactMatch DOID:2349 arteriosclerosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002278 benign colon neoplasm skos:exactMatch DOID:235 colonic benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002279 iron metabolism disease skos:exactMatch DOID:2351 iron metabolism disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002280 anemia skos:exactMatch DOID:2355 anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0002281 macrocytic anemia skos:exactMatch DOID:2361 macrocytic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0002282 West Nile fever skos:exactMatch DOID:2366 West Nile fever semapv:ManualMappingCuration 2023-03-17 MONDO:0002283 neuroaxonal dystrophy skos:exactMatch DOID:2367 neuroaxonal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0002286 renal artery disease skos:exactMatch DOID:2388 renal artery disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002289 iris disorder skos:exactMatch DOID:240 iris disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002291 cutaneous granular cell tumor skos:exactMatch DOID:2410 skin granular cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002295 skin glomus tumor skos:exactMatch DOID:2430 skin glomus tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002297 epidermal appendage tumor skos:exactMatch DOID:2433 epidermal appendage tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0002300 dermis tumor skos:exactMatch DOID:2438 dermis tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0002304 protein S deficiency skos:exactMatch DOID:2451 protein S deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0002307 blepharoconjunctivitis skos:exactMatch DOID:2456 blepharoconjunctivitis semapv:ManualMappingCuration 2024-04-21 MONDO:0002311 retinal vascular disorder skos:exactMatch DOID:2462 retinal vascular disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002312 opportunistic mycosis skos:exactMatch DOID:2473 opportunistic mycosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002314 chronic conjunctivitis skos:exactMatch DOID:2475 chronic conjunctivitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002316 motor peripheral neuropathy skos:exactMatch DOID:2477 motor peripheral neuropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0002317 central nervous system origin vertigo skos:exactMatch DOID:2479 central nervous system origin vertigo semapv:ManualMappingCuration 2023-03-17 MONDO:0002318 trachea leiomyoma skos:exactMatch DOID:248 trachea leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002319 phosphorus metabolism disease skos:exactMatch DOID:2485 phosphorus metabolism disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002320 congenital nervous system disorder skos:exactMatch DOID:2490 congenital nervous system abnormality semapv:ManualMappingCuration 2023-03-17 MONDO:0002321 sensory peripheral neuropathy skos:exactMatch DOID:2491 sensory peripheral neuropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0002326 alcohol-induced mental disorder skos:exactMatch DOID:251 alcohol-induced mental disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0002328 intracranial hemangioma skos:exactMatch DOID:2517 intracranial structure hemangioma semapv:ManualMappingCuration 2023-03-17 MONDO:0002331 nephrosis skos:exactMatch DOID:2527 nephrosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002333 splenic abscess skos:exactMatch DOID:2530 splenic abscess semapv:ManualMappingCuration 2024-04-21 MONDO:0002334 hematopoietic and lymphoid system neoplasm skos:exactMatch DOID:2531 hematologic cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002337 intra-abdominal hemangioma skos:exactMatch DOID:254 hemangioma of intra-abdominal structure semapv:ManualMappingCuration 2023-03-17 MONDO:0002341 granulomatous angiitis skos:exactMatch DOID:2555 granulomatous angiitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002342 chondromalacia skos:exactMatch DOID:2557 chondromalacia semapv:ManualMappingCuration 2023-03-17 MONDO:0002343 splenic hemangioma skos:exactMatch DOID:256 hemangioma of spleen semapv:ManualMappingCuration 2024-04-21 MONDO:0002345 cervicitis skos:exactMatch DOID:2568 cervicitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002350 familial nephrotic syndrome skos:exactMatch DOID:2590 familial nephrotic syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0002351 glottis cancer skos:exactMatch DOID:2595 glottis cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002353 glottis neoplasm skos:exactMatch DOID:2597 glottis neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002354 benign laryngeal neoplasm skos:exactMatch DOID:2598 laryngeal benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002355 glottis carcinoma skos:exactMatch DOID:2599 glottis carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002358 laryngeal carcinoma skos:exactMatch DOID:2600 laryngeal carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002359 periosteal chondroma skos:exactMatch DOID:2601 juxtacortical chondroma semapv:ManualMappingCuration 2023-03-17 MONDO:0002360 chondroma skos:exactMatch DOID:2602 chondroma semapv:ManualMappingCuration 2023-03-17 MONDO:0002363 papilloma skos:exactMatch DOID:2615 papilloma semapv:ManualMappingCuration 2023-03-17 MONDO:0002365 kidney hemangiopericytoma skos:exactMatch DOID:262 kidney hemangiopericytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002366 autonomic nervous system neoplasm skos:exactMatch DOID:2621 autonomic nervous system neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002367 kidney cancer skos:exactMatch DOID:263 kidney cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002368 papillary serous cystadenocarcinoma skos:exactMatch DOID:2632 papillary serous adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002369 cystadenoma skos:exactMatch DOID:2634 cystadenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002372 ovarian monodermal and highly specialized teratoma skos:exactMatch DOID:2641 ovarian germ cell monodermal and highly specialized teratoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002373 benign mesothelioma skos:exactMatch DOID:2645 benign mesothelioma semapv:ManualMappingCuration 2024-04-21 MONDO:0002375 sebaceous adenoma skos:exactMatch DOID:2648 sebaceous adenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002376 spleen angiosarcoma skos:exactMatch DOID:265 spleen angiosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002379 cystic teratoma skos:exactMatch DOID:2660 cystic teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002380 myoepithelial tumor skos:exactMatch DOID:2661 myoepithelioma semapv:ManualMappingCuration 2023-03-17 MONDO:0002387 liver angiosarcoma skos:exactMatch DOID:268 liver angiosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002395 renal adenoma skos:exactMatch DOID:2697 renal adenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002397 liver sarcoma skos:exactMatch DOID:270 liver sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002398 mucinous adenofibroma skos:exactMatch DOID:2700 mucinous adenofibroma semapv:ManualMappingCuration 2023-03-17 MONDO:0002401 malignant tenosynovial giant cell tumor skos:exactMatch DOID:2704 malignant giant cell tumor of the tendon sheath semapv:ManualMappingCuration 2024-04-21 MONDO:0002402 malignant giant cell tumor skos:exactMatch DOID:2705 malignant giant cell tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0002403 synovium cancer skos:exactMatch DOID:2706 synovium cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0002404 liver hemangioma skos:exactMatch DOID:271 hemangioma of liver semapv:ManualMappingCuration 2023-03-17 MONDO:0002405 hepatic vascular disorder skos:exactMatch DOID:272 hepatic vascular disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002406 dermatitis skos:exactMatch DOID:2723 dermatitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002407 capillary hemangioma skos:exactMatch DOID:2725 capillary hemangioma semapv:ManualMappingCuration 2023-03-17 MONDO:0002408 hereditary hyperbilirubinemia skos:exactMatch DOID:2741 bilirubin metabolic disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0002412 disorder of glycogen metabolism skos:exactMatch DOID:0050728 glycogen metabolism disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0002412 disorder of glycogen metabolism skos:exactMatch DOID:2747 glycogen storage disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002413 glycogen storage disease I skos:exactMatch DOID:0081329 glycogen storage disease I semapv:ManualMappingCuration 2023-05-21 MONDO:0002414 gastric hemangioma skos:exactMatch DOID:275 gastric hemangioma semapv:ManualMappingCuration 2024-04-21 MONDO:0002415 bone carcinoma skos:exactMatch DOID:2762 bone carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002416 ethmoid sinus squamous cell carcinoma skos:exactMatch DOID:2763 ethmoid sinus squamous cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002418 ethmoid sinus adenocarcinoma skos:exactMatch DOID:2766 ethmoid sinus adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002419 transient tic disorder skos:exactMatch DOID:2768 transient tic disorder semapv:ManualMappingCuration 2024-04-21 MONDO:0002420 tic disorder skos:exactMatch DOID:2769 tic disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0002422 adamantinoma skos:exactMatch DOID:2775 long bone adamantinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002422 adamantinoma skos:exactMatch DOID:2776 adamantinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002423 rectosigmoid junction neoplasm skos:exactMatch DOID:2780 rectosigmoid junction neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002424 rectosigmoid carcinoma skos:exactMatch DOID:2781 rectosigmoid cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0002425 rectosigmoid junction cancer skos:exactMatch DOID:2782 rectosigmoid junction cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0002426 lung sarcoma skos:exactMatch DOID:2784 lung sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002427 cerebellar disorder skos:exactMatch DOID:2786 cerebellar disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002428 protozoa infectious disease skos:exactMatch DOID:2789 parasitic protozoa infectious disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002429 idiopathic interstitial pneumonia skos:exactMatch DOID:2797 idiopathic interstitial pneumonia semapv:ManualMappingCuration 2023-03-17 MONDO:0002432 malignant neoplasm of acoustic nerve skos:exactMatch DOID:2814 malignant neoplasm of acoustic nerve semapv:ManualMappingCuration 2024-04-21 MONDO:0002434 oculomotor nerve cancer skos:exactMatch DOID:2816 malignant oculomotor nerve tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002435 oculomotor nerve neoplasm skos:exactMatch DOID:2817 cranial nerve III tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002436 nasal disorder skos:exactMatch DOID:2825 nose disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002438 acquired polycythemia skos:exactMatch DOID:2834 acquired polycythemia semapv:ManualMappingCuration 2023-03-17 MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch DOID:2842 Jervell-Lange Nielsen syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0002443 bruxism skos:exactMatch DOID:2846 bruxism semapv:ManualMappingCuration 2023-11-19 MONDO:0002448 laryngeal sarcoma skos:exactMatch DOID:2877 larynx sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002450 prostatic adenoma skos:exactMatch DOID:2883 prostatic adenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002451 benign prostate phyllodes tumor skos:exactMatch DOID:2885 benign prostate phyllodes tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002452 prostate leiomyoma skos:exactMatch DOID:2887 prostate leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002453 retrocochlear disease skos:exactMatch DOID:2889 retrocochlear disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002457 Treacher-Collins syndrome skos:exactMatch DOID:2908 Treacher Collins syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0002459 type IV hypersensitivity disease skos:exactMatch DOID:2916 hypersensitivity reaction type IV disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002460 lacrimal system cancer skos:exactMatch DOID:292 lacrimal system cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002462 glomerulonephritis skos:exactMatch DOID:2921 glomerulonephritis semapv:ManualMappingCuration 2023-03-17 MONDO:0002463 lacrimal gland carcinoma skos:exactMatch DOID:293 lacrimal gland carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002464 lacrimal gland cancer skos:exactMatch DOID:294 lacrimal gland cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002465 bronchiolitis skos:exactMatch DOID:2942 bronchiolitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002466 eye carcinoma skos:exactMatch DOID:295 eye carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002468 hyperimmunoglobulin syndrome skos:exactMatch DOID:2959 hyperimmunoglobulin syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma skos:exactMatch DOID:296 mixed lacrimal gland cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch DOID:2960 photosensitive trichothiodystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0002471 bursitis skos:exactMatch DOID:2965 bursitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002474 primary hyperoxaluria skos:exactMatch DOID:2977 primary hyperoxaluria semapv:ManualMappingCuration 2023-03-17 MONDO:0002475 lacrimal gland adenocarcinoma skos:exactMatch DOID:298 lacrimal gland adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002477 prostate neuroendocrine neoplasm skos:exactMatch DOID:2992 prostate neuroendocrine neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002478 mixed germ cell-sex cord-stromal tumor skos:exactMatch DOID:2996 mixed germ cell-sex cord neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0002480 endometrioid tumor skos:exactMatch DOID:3001 female reproductive endometrioid cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002481 ovarian neuroendocrine neoplasm skos:exactMatch DOID:3002 ovary neuroendocrine neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002482 nipple neoplasm skos:exactMatch DOID:3003 nipple benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002483 breast myoepithelial tumor skos:exactMatch DOID:3004 breast myoepithelial neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0002485 breast neuroendocrine neoplasm skos:exactMatch DOID:3009 breast neuroendocrine neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0002486 lobular neoplasia skos:exactMatch DOID:3010 lobular neoplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0002487 breast granular cell tumor skos:exactMatch DOID:3011 breast granular cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002488 intraductal breast neoplasm skos:exactMatch DOID:3013 intraductal breast benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002490 breast sarcoma skos:exactMatch DOID:3017 breast sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002491 substance abuse skos:exactMatch DOID:302 substance abuse semapv:ManualMappingCuration 2023-03-17 MONDO:0002492 acute kidney failure skos:exactMatch DOID:3021 acute kidney failure semapv:ManualMappingCuration 2023-03-17 MONDO:0002493 prostatic acinar adenocarcinoma skos:exactMatch DOID:3024 prostatic acinar adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002494 substance-related disorder skos:exactMatch DOID:303 substance-related disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0002495 colon signet ring cell adenocarcinoma skos:exactMatch DOID:3033 colon signet ring adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002503 adult astrocytic tumor skos:exactMatch DOID:3076 adult astrocytic tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002505 childhood astrocytic tumor skos:exactMatch DOID:3079 childhood astrocytic tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002507 gingival overgrowth skos:exactMatch DOID:3086 gingival overgrowth semapv:ManualMappingCuration 2023-03-17 MONDO:0002508 gingivitis skos:exactMatch DOID:3087 gingivitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002512 papillary adenocarcinoma skos:exactMatch DOID:3112 papillary adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002513 kidney benign neoplasm skos:exactMatch DOID:3116 kidney benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002516 digestive system cancer skos:exactMatch DOID:3119 gastrointestinal system cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002518 gallbladder papillary neoplasm skos:exactMatch DOID:3120 gallbladder papillomatosis semapv:ManualMappingCuration 2024-04-21 MONDO:0002520 hepatic porphyria skos:exactMatch DOID:3133 acute porphyria semapv:ManualMappingCuration 2023-03-17 MONDO:0002523 cutaneous mucinosis skos:exactMatch DOID:3141 mucinoses semapv:ManualMappingCuration 2023-03-17 MONDO:0002525 inherited lipid metabolism disorder skos:exactMatch DOID:3146 lipid metabolism disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0002527 keratoacanthoma skos:exactMatch DOID:3149 keratoacanthoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002528 synovium neoplasm skos:exactMatch DOID:315 synovium neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002529 skin squamous cell carcinoma skos:exactMatch DOID:3151 skin squamous cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002532 squamous cell neoplasm skos:exactMatch DOID:3168 squamous cell neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002533 papillary adenoma skos:exactMatch DOID:3172 papillary adenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002534 fallopian tube papilloma skos:exactMatch DOID:3173 fallopian tube serous papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0002536 skin papilloma skos:exactMatch DOID:3178 skin papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0002537 inverted papilloma skos:exactMatch DOID:3179 inverted papilloma semapv:ManualMappingCuration 2023-03-17 MONDO:0002540 childhood oligodendroglioma skos:exactMatch DOID:3183 childhood oligodendroglioma semapv:ManualMappingCuration 2024-04-21 MONDO:0002541 spinal cord oligodendroglioma skos:exactMatch DOID:3184 spinal cord oligodendroglioma semapv:ManualMappingCuration 2024-04-21 MONDO:0002542 spinal cord glioma skos:exactMatch DOID:3185 spinal cord glioma semapv:ManualMappingCuration 2023-03-17 MONDO:0002543 adult oligodendroglioma skos:exactMatch DOID:3186 adult oligodendroglioma semapv:ManualMappingCuration 2024-04-21 MONDO:0002544 brain oligodendroglioma skos:exactMatch DOID:3187 brain oligodendroglioma semapv:ManualMappingCuration 2024-04-21 MONDO:0002547 nerve sheath neoplasm skos:exactMatch DOID:3193 peripheral nerve sheath neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002548 cellular schwannoma skos:exactMatch DOID:3196 cellular schwannoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002555 trigeminal schwannoma skos:exactMatch DOID:3202 neurilemmoma of the fifth cranial nerve semapv:ManualMappingCuration 2024-04-21 MONDO:0002558 melanotic neurilemmoma skos:exactMatch DOID:3205 melanotic neurilemmoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002561 lysosomal storage disease skos:exactMatch DOID:3211 lysosomal storage disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002562 demyelinating disease skos:exactMatch DOID:3213 demyelinating disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002564 jejunal neoplasm skos:exactMatch DOID:3218 jejunal neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002567 tracheal disorder skos:exactMatch DOID:3225 tracheal disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002574 prostate embryonal rhabdomyosarcoma skos:exactMatch DOID:3251 prostate embryonal rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma skos:exactMatch DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma skos:exactMatch DOID:3254 bile duct rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002579 orbit embryonal rhabdomyosarcoma skos:exactMatch DOID:3258 orbit embryonal rhabdomyosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002580 orbit rhabdomyosarcoma skos:exactMatch DOID:3259 orbit rhabdomyosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002581 spindle cell rhabdomyosarcoma skos:exactMatch DOID:3260 spindle cell rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002583 mucinous ovarian cystadenoma skos:exactMatch DOID:3267 mucinous ovarian cystadenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002586 thymus cancer skos:exactMatch DOID:3277 thymus cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002588 thymoma type A skos:exactMatch DOID:3279 spindle cell thymoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002592 invasive malignant thymoma skos:exactMatch DOID:3283 invasive malignant thymoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002597 notochordal tumor skos:exactMatch DOID:3303 notochordal cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002598 germinoma skos:exactMatch DOID:3304 germinoma semapv:ManualMappingCuration 2023-08-20 MONDO:0002601 teratoma skos:exactMatch DOID:3307 teratoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002603 angiomyolipoma skos:exactMatch DOID:3314 angiomyolipoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002604 pericytic neoplasm skos:exactMatch DOID:3316 perivascular tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0002605 hepatic angiomyolipoma skos:exactMatch DOID:3317 hepatic angiomyolipoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002606 epithelioid type angiomyolipoma skos:exactMatch DOID:3318 epithelioid type angiomyolipoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002610 purpura skos:exactMatch DOID:3326 purpura semapv:ManualMappingCuration 2023-03-17 MONDO:0002612 frontal lobe epilepsy skos:exactMatch DOID:3331 frontal lobe epilepsy semapv:ManualMappingCuration 2023-03-17 MONDO:0002614 bone inflammation disease skos:exactMatch DOID:3342 bone inflammation disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002615 xanthomatosis skos:exactMatch DOID:3345 xanthomatosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002616 mesenchymal cell neoplasm skos:exactMatch DOID:3350 mesenchymal cell neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002617 bone angiosarcoma skos:exactMatch DOID:3351 bone angioendothelial sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone skos:exactMatch DOID:3352 malignant fibrous histiocytoma of bone semapv:ManualMappingCuration 2023-03-17 MONDO:0002619 bone fibrosarcoma skos:exactMatch DOID:3354 fibrosarcoma of bone semapv:ManualMappingCuration 2023-03-17 MONDO:0002621 extraosseous osteosarcoma skos:exactMatch DOID:3357 extraosseous osteosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002623 pediatric osteosarcoma skos:exactMatch DOID:3361 childhood osteosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002624 bone leiomyosarcoma skos:exactMatch DOID:3367 bone leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002625 Ewing sarcoma of bone skos:exactMatch DOID:3368 Ewing sarcoma of bone semapv:ManualMappingCuration 2024-04-21 MONDO:0002627 chondroblastic osteosarcoma skos:exactMatch DOID:3372 chondroblastic osteosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002628 peripheral osteosarcoma skos:exactMatch DOID:3374 peripheral osteosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002629 bone osteosarcoma skos:exactMatch DOID:3376 bone osteosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002630 small cell osteogenic sarcoma skos:exactMatch DOID:3377 small cell osteogenic sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002631 conventional osteosarcoma skos:exactMatch DOID:3378 conventional central osteosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002631 conventional osteosarcoma skos:exactMatch DOID:7602 conventional osteosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002633 cranial nerve neoplasm skos:exactMatch DOID:338 cranial nerve neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002634 liposarcoma of bone skos:exactMatch DOID:3381 liposarcoma of bone semapv:ManualMappingCuration 2024-04-21 MONDO:0002635 periodontal disorder skos:exactMatch DOID:3388 periodontal disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002642 trochlear nerve neoplasm skos:exactMatch DOID:3421 trochlear nerve neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0002645 cerebritis skos:exactMatch DOID:3431 cerebritis semapv:ManualMappingCuration 2024-04-21 MONDO:0002646 viral laryngitis skos:exactMatch DOID:3436 viral laryngitis semapv:ManualMappingCuration 2024-04-21 MONDO:0002647 laryngitis skos:exactMatch DOID:3437 laryngitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002648 mammary Paget disease skos:exactMatch DOID:3443 mammary Paget's disease semapv:ManualMappingCuration 2024-04-21 MONDO:0002649 scrotum Paget disease skos:exactMatch DOID:3444 scrotum Paget's disease semapv:ManualMappingCuration 2024-04-21 MONDO:0002650 scrotal carcinoma skos:exactMatch DOID:3445 scrotal carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002651 anal Paget disease skos:exactMatch DOID:3446 anal Paget's disease semapv:ManualMappingCuration 2024-04-21 MONDO:0002652 anus adenocarcinoma skos:exactMatch DOID:3447 anus adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002653 Paget disease of the penis skos:exactMatch DOID:3448 penis Paget's disease semapv:ManualMappingCuration 2024-04-21 MONDO:0002654 uterine disorder skos:exactMatch DOID:345 uterine disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002655 cutaneous Paget disease skos:exactMatch DOID:3450 cutaneous Paget's disease semapv:ManualMappingCuration 2024-04-21 MONDO:0002661 uveal disorder skos:exactMatch DOID:3480 uveal disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma skos:exactMatch DOID:3494 bile duct signet ring cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002665 extrahepatic bile duct adenocarcinoma skos:exactMatch DOID:3495 extrahepatic bile duct adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002666 pancreatic signet ring cell adenocarcinoma skos:exactMatch DOID:3497 pancreatic signet ring cell adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002667 gallbladder signet ring cell adenocarcinoma skos:exactMatch DOID:3499 gallbladder signet ring cell adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002671 signet ring cell breast carcinoma skos:exactMatch DOID:3503 breast signet ring cell adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant skos:exactMatch DOID:3504 prostate signet ring cell adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002674 stricture or kinking of ureter skos:exactMatch DOID:3508 stricture or kinking of ureter semapv:ManualMappingCuration 2023-03-17 MONDO:0002676 adult fibrosarcoma skos:exactMatch DOID:3516 adult fibrosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002677 conventional fibrosarcoma skos:exactMatch DOID:3517 conventional fibrosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002678 pediatric fibrosarcoma skos:exactMatch DOID:3520 childhood fibrosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002679 cerebral infarction skos:exactMatch DOID:3526 cerebral infarction semapv:ManualMappingCuration 2023-03-17 MONDO:0002683 adult choroid plexus neoplasm skos:exactMatch DOID:3542 adult choroid plexus cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0002684 atypical choroid plexus papilloma skos:exactMatch DOID:3544 atypical choroid plexus papilloma semapv:ManualMappingCuration 2023-08-20 MONDO:0002685 childhood choroid plexus carcinoma skos:exactMatch DOID:3545 childhood choroid plexus cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0002691 liver cancer skos:exactMatch DOID:3571 liver cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002697 ovarian gonadoblastoma skos:exactMatch DOID:3578 ovarian gonadoblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002698 testicular gonadoblastoma skos:exactMatch DOID:3579 testicular gonadoblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002703 appendix mucinous cystadenocarcinoma skos:exactMatch DOID:3607 appendix mucinous cystadenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002705 breast mucinous cystadenocarcinoma skos:exactMatch DOID:3609 breast mucinous cystadenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002706 cervix endometriosis skos:exactMatch DOID:361 cervix endometriosis semapv:ManualMappingCuration 2024-04-21 MONDO:0002708 retinitis skos:exactMatch DOID:3612 retinitis semapv:ManualMappingCuration 2023-03-17 MONDO:0002710 infiltrating angiolipoma skos:exactMatch DOID:3615 infiltrating angiolipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002715 uterine cancer skos:exactMatch DOID:363 uterine cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002716 childhood spinal cord tumor skos:exactMatch DOID:3637 childhood spinal cord tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002718 central nervous system teratoma skos:exactMatch DOID:3640 central nervous system teratoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002720 sella turcica neoplasm skos:exactMatch DOID:3643 sella turcica neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002721 necrosis of pituitary skos:exactMatch DOID:3646 necrosis of pituitary semapv:ManualMappingCuration 2023-03-17 MONDO:0002722 olfactory nerve neoplasm skos:exactMatch DOID:8256 olfactory neural tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0002727 olfactory nerve disorder skos:exactMatch DOID:367 olfactory nerve disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002730 childhood kidney neoplasm skos:exactMatch DOID:3675 childhood kidney cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002731 cerebral hemisphere cancer skos:exactMatch DOID:368 cerebrum cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0002732 lung benign neoplasm skos:exactMatch DOID:3683 lung benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002734 anal mucinous adenocarcinoma skos:exactMatch DOID:3691 anal colloid adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002735 anal canal adenocarcinoma skos:exactMatch DOID:3692 anal canal adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002736 ampulla of vater mucinous adenocarcinoma skos:exactMatch DOID:3693 ampulla of Vater mucinous adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002738 acute transudative otitis media skos:exactMatch DOID:3697 acute transudative otitis media semapv:ManualMappingCuration 2024-04-21 MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma skos:exactMatch DOID:3698 bile duct mucinous adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002740 uterine ligament mucinous adenocarcinoma skos:exactMatch DOID:3699 uterine ligament mucinous adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002741 uterine ligament adenocarcinoma skos:exactMatch DOID:3700 uterine ligament adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002742 cervical mucinous adenocarcinoma skos:exactMatch DOID:3701 cervical mucinous adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002744 fallopian tube mucinous adenocarcinoma skos:exactMatch DOID:3704 fallopian tube mucinous adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002745 fallopian tube mucinous tumor skos:exactMatch DOID:3705 fallopian tube mucinous tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002746 fallopian tube adenocarcinoma skos:exactMatch DOID:3706 fallopian tube adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002748 rectum mucinous adenocarcinoma skos:exactMatch DOID:3709 rectum mucinous adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002749 extracranial neuroblastoma skos:exactMatch DOID:371 extracranial neuroblastoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002758 vulva verrucous carcinoma skos:exactMatch DOID:3740 vulva verrucous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002759 bladder verrucous carcinoma skos:exactMatch DOID:3741 bladder verrucous squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002761 cervical verrucous carcinoma skos:exactMatch DOID:3743 cervical verrucous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002762 esophagus verrucous carcinoma skos:exactMatch DOID:3747 esophagus verrucous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002763 urethral verrucous carcinoma skos:exactMatch DOID:3749 urethral verrucous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002764 urethra squamous cell carcinoma skos:exactMatch DOID:3750 urethra squamous cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002765 plantar verrucous skin carcinoma skos:exactMatch DOID:3751 plantar verrucous skin carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002766 larynx verrucous carcinoma skos:exactMatch DOID:3752 larynx verrucous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002772 intraventricular meningioma skos:exactMatch DOID:3772 intraventricular meningioma semapv:ManualMappingCuration 2024-04-21 MONDO:0002775 anovulation skos:exactMatch DOID:3781 anovulation semapv:ManualMappingCuration 2023-03-17 MONDO:0002779 central nervous system chondroma skos:exactMatch DOID:3813 central nervous system chondroma semapv:ManualMappingCuration 2024-04-21 MONDO:0002785 skull base neoplasm skos:exactMatch DOID:3842 skull base cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002786 diencephalic cancer skos:exactMatch DOID:3843 diencephalic neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002794 adult medulloblastoma skos:exactMatch DOID:3864 adult medulloblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002795 adult central nervous system primitive neuroectodermal neoplasm skos:exactMatch DOID:3865 adult central nervous system embryonal tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0002797 childhood medulloblastoma skos:exactMatch DOID:3869 childhood medulloblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm skos:exactMatch DOID:3870 childhood central nervous system embryonal tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0002805 hidradenoma skos:exactMatch DOID:3896 hidradenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002808 pancreatic serous cystadenoma skos:exactMatch DOID:3917 pancreatic serous cystadenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002809 pancreatic cystadenoma skos:exactMatch DOID:3918 pancreatic cystadenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002810 pancreatic serous cystic neoplasm skos:exactMatch DOID:3919 pancreatic serous cystic neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0002814 adrenal carcinoma skos:exactMatch DOID:3950 adrenal carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002815 acute myocarditis skos:exactMatch DOID:3951 acute myocarditis semapv:ManualMappingCuration 2024-04-21 MONDO:0002816 adrenal cortex disorder skos:exactMatch DOID:3952 adrenal cortex disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002817 adrenal gland cancer skos:exactMatch DOID:3953 adrenal gland cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002822 trabecular adenocarcinoma skos:exactMatch DOID:3965 Merkel cell carcinoma semapv:ManualMappingCuration 2023-11-19 MONDO:0002824 extrinsic cardiomyopathy skos:exactMatch DOID:3978 extrinsic cardiomyopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0002828 Bartholin gland transitional cell carcinoma skos:exactMatch DOID:3998 Bartholin's gland transitional cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002833 fallopian tube transitional cell carcinoma skos:exactMatch DOID:4008 fallopian tube transitional cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002834 primary prostate urothelial carcinoma skos:exactMatch DOID:4011 prostate transitional cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002836 urethra transitional cell carcinoma skos:exactMatch DOID:4013 urethra transitional cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002837 sarcomatoid transitional cell carcinoma skos:exactMatch DOID:4014 sarcomatoid transitional cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002842 bacterial gastritis skos:exactMatch DOID:4033 bacterial gastritis semapv:ManualMappingCuration 2024-04-21 MONDO:0002843 fungal gastritis skos:exactMatch DOID:4034 fungal gastritis semapv:ManualMappingCuration 2024-04-21 MONDO:0002847 skeletal muscle cancer skos:exactMatch DOID:4043 skeletal muscle cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0002848 skeletal muscle neoplasm skos:exactMatch DOID:4044 skeletal muscle neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0002849 liver rhabdomyosarcoma skos:exactMatch DOID:4047 liver rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002850 central nervous system rhabdomyosarcoma skos:exactMatch DOID:4048 central nervous system rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002851 mediastinum rhabdomyosarcoma skos:exactMatch DOID:4049 mediastinum rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002852 mediastinum sarcoma skos:exactMatch DOID:4050 mediastinum sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002853 rectum rhabdomyosarcoma skos:exactMatch DOID:4053 rectum rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002854 prostate sarcoma skos:exactMatch DOID:4054 prostate sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002855 ectomesenchymoma skos:exactMatch DOID:4055 ectomesenchymoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002856 gallbladder rhabdomyosarcoma skos:exactMatch DOID:4057 gallbladder rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002857 gallbladder sarcoma skos:exactMatch DOID:4058 gallbladder sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002858 ovary rhabdomyosarcoma skos:exactMatch DOID:4059 ovary rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002859 breast rhabdomyosarcoma skos:exactMatch DOID:4060 breast rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002860 testis rhabdomyosarcoma skos:exactMatch DOID:4061 testis rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002861 testis sarcoma skos:exactMatch DOID:4062 testis sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002862 bile duct sarcoma skos:exactMatch DOID:4064 bile duct sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features skos:exactMatch DOID:4065 mixed type rhabdomyosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002864 anus rhabdomyosarcoma skos:exactMatch DOID:4066 anus rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002865 anus sarcoma skos:exactMatch DOID:4067 anus sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002866 duodenal disorder skos:exactMatch DOID:4072 duodenum disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002867 pancreatic cystadenocarcinoma skos:exactMatch DOID:4073 pancreatic cystadenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002870 tricuspid valve insufficiency skos:exactMatch DOID:4080 tricuspid valve insufficiency semapv:ManualMappingCuration 2024-04-21 MONDO:0002871 testicular trophoblastic tumor skos:exactMatch DOID:4084 testicular trophoblastic tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0002872 trophoblastic neoplasm skos:exactMatch DOID:4085 trophoblastic neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002874 testicular pure germ cell tumor skos:exactMatch DOID:4087 testicular pure germ cell tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0002875 parasitic ectoparasitic infectious disease skos:exactMatch DOID:4110 parasitic ectoparasitic infectious disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002876 cervical adenosarcoma skos:exactMatch DOID:4111 cervical adenosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002877 cervical carcinosarcoma skos:exactMatch DOID:4112 cervical carcinosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002878 uterine corpus adenosarcoma skos:exactMatch DOID:4113 uterine corpus adenosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002879 uterine body mixed cancer skos:exactMatch DOID:4114 uterine body mixed cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002880 ovarian adenosarcoma skos:exactMatch DOID:4115 ovarian mesodermal adenosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002881 vaginal adenosarcoma skos:exactMatch DOID:4117 vaginal adenosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch DOID:4118 colon neuroendocrine neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002883 intestinal neuroendocrine neoplasm skos:exactMatch DOID:4119 intestinal neuroendocrine benign tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0002884 nail disorder skos:exactMatch DOID:4123 nail disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002886 common bile duct disorder skos:exactMatch DOID:4137 common bile duct disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002887 bile duct disorder skos:exactMatch DOID:4138 bile duct disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002898 skin cancer skos:exactMatch DOID:4159 skin cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002900 cerebral neuroblastoma skos:exactMatch DOID:0080905 central nervous system neuroblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002900 cerebral neuroblastoma skos:exactMatch DOID:4164 cerebral neuroblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002901 blood group incompatibility skos:exactMatch DOID:4176 blood group incompatibility semapv:ManualMappingCuration 2023-03-17 MONDO:0002907 intracranial thrombosis skos:exactMatch DOID:4193 intracranial thrombosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002912 brainstem cancer skos:exactMatch DOID:4203 brain stem cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002913 cerebellar neoplasm skos:exactMatch DOID:4205 cerebellum cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002914 childhood brain stem neoplasm skos:exactMatch DOID:4206 childhood brain stem neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002915 childhood infratentorial neoplasm skos:exactMatch DOID:4207 childhood infratentorial neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0002917 disorder of pilosebaceous unit skos:exactMatch DOID:421 hair disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002921 congenital structural myopathy skos:exactMatch DOID:422 congenital structural myopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0002923 uterine corpus endometrial stromal sarcoma skos:exactMatch DOID:4227 uterine corpus endometrial stromal sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002924 smooth muscle cancer skos:exactMatch DOID:4230 smooth muscle cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002927 spindle cell sarcoma skos:exactMatch DOID:4235 spindle cell sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002928 carcinosarcoma skos:exactMatch DOID:4236 carcinosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002930 kidney sarcoma skos:exactMatch DOID:4242 kidney sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002933 osteosclerosis skos:exactMatch DOID:4254 osteosclerosis semapv:ManualMappingCuration 2023-03-17 MONDO:0002935 penis basal cell carcinoma skos:exactMatch DOID:4277 penis basal cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002936 scrotum basal cell carcinoma skos:exactMatch DOID:4278 scrotum basal cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002943 external ear basal cell carcinoma skos:exactMatch DOID:4287 external ear basal cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002944 external ear carcinoma skos:exactMatch DOID:4288 external ear carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002951 skin adenoid basal cell carcinoma skos:exactMatch DOID:4294 adenoid basal cell carcinoma semapv:ManualMappingCuration 2024-02-18 MONDO:0002955 vulva basal cell carcinoma skos:exactMatch DOID:4301 vulva basal cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002959 radiculopathy skos:exactMatch DOID:4306 radiculopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0002962 epidermolytic acanthoma skos:exactMatch DOID:4323 epidermolytic acanthoma semapv:ManualMappingCuration 2023-11-19 MONDO:0002966 splenic manifestation of prolymphocytic leukemia skos:exactMatch DOID:4334 splenic manifestation of prolymphocytic leukemia semapv:ManualMappingCuration 2024-04-21 MONDO:0002967 dermatophytosis of scalp or beard skos:exactMatch DOID:4337 tinea capitis semapv:ManualMappingCuration 2024-04-21 MONDO:0002969 ciliary body cancer skos:exactMatch DOID:4352 ciliary body cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0002970 ciliary body disorder skos:exactMatch DOID:4353 ciliary body disease semapv:ManualMappingCuration 2023-03-17 MONDO:0002973 epithelioid cell melanoma skos:exactMatch DOID:4360 epithelioid cell melanoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002974 cervical cancer skos:exactMatch DOID:4362 cervical cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0002975 malignant breast melanoma skos:exactMatch DOID:4364 malignant breast melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0002977 autoimmune disorder of the nervous system skos:exactMatch DOID:438 autoimmune disease of the nervous system semapv:ManualMappingCuration 2023-03-17 MONDO:0002979 papillary squamous carcinoma skos:exactMatch DOID:4385 papillary squamous carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002981 peripheral primitive neuroectodermal tumor of bone skos:exactMatch DOID:4388 bone peripheral neuroepithelioma semapv:ManualMappingCuration 2024-04-21 MONDO:0002989 benign fibrous histiocytoma skos:exactMatch DOID:4415 fibrous histiocytoma semapv:ManualMappingCuration 2023-03-17 MONDO:0002996 cavernous sinus meningioma skos:exactMatch DOID:4435 cavernous sinus meningioma semapv:ManualMappingCuration 2023-03-17 MONDO:0002998 skull base meningioma skos:exactMatch DOID:4437 skull base meningioma semapv:ManualMappingCuration 2023-03-17 MONDO:0002999 central nervous system germinoma skos:exactMatch DOID:4438 central nervous system germinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003000 central nervous system germ cell tumor skos:exactMatch DOID:4439 central nervous system germ cell tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0003001 seminoma skos:exactMatch DOID:4440 seminoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003002 dysgerminoma skos:exactMatch DOID:4441 dysgerminoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003003 cervical alveolar soft part sarcoma skos:exactMatch DOID:4442 cervical alveolar soft part sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003005 macular retinal edema skos:exactMatch DOID:4449 macular retinal edema semapv:ManualMappingCuration 2023-03-17 MONDO:0003007 childhood kidney cell carcinoma skos:exactMatch DOID:4454 childhood kidney cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003008 hereditary renal cell carcinoma skos:exactMatch DOID:4455 hereditary renal cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003017 malignant peritoneal solitary fibrous tumor skos:exactMatch DOID:4490 malignant peritoneal solitary fibrous tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003019 potassium deficiency disease skos:exactMatch DOID:4500 hypokalemia semapv:ManualMappingCuration 2023-03-17 MONDO:0003021 central nervous system angiosarcoma skos:exactMatch DOID:4504 central nervous system angiosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003022 pediatric angiosarcoma skos:exactMatch DOID:4505 childhood angiosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003023 aorta angiosarcoma skos:exactMatch DOID:4510 aorta angiosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003024 breast angiosarcoma skos:exactMatch DOID:4511 breast angiosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003026 gallbladder angiosarcoma skos:exactMatch DOID:4513 gallbladder angiosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003027 thyroid gland angiosarcoma skos:exactMatch DOID:4514 thyroid angiosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003028 thyroid sarcoma skos:exactMatch DOID:4515 thyroid sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003029 skin angiosarcoma skos:exactMatch DOID:4517 skin angiosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003030 endometrioid stromal sarcoma of the cervix skos:exactMatch DOID:4520 cervical endometrial stromal sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003031 endometrioid stromal and related neoplasms of the cervix skos:exactMatch DOID:4521 cervix endometrial stromal tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003033 prostate angiosarcoma skos:exactMatch DOID:4524 prostate angiosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003034 mediastinum angiosarcoma skos:exactMatch DOID:4525 mediastinum angiosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003035 ovarian angiosarcoma skos:exactMatch DOID:4527 ovarian angiosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003036 mucoepidermoid carcinoma skos:exactMatch DOID:4531 mucoepidermoid carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003037 hypotrichosis skos:exactMatch DOID:4535 hypotrichosis semapv:ManualMappingCuration 2023-03-17 MONDO:0003041 pediatric mesenchymal chondrosarcoma skos:exactMatch DOID:4546 childhood mesenchymal chondrosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003042 adult mesenchymal chondrosarcoma skos:exactMatch DOID:4547 adult mesenchymal chondrosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003047 thymic large cell neuroendocrine carcinoma skos:exactMatch DOID:4553 thymus large cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003049 ovarian large-cell neuroendocrine carcinoma skos:exactMatch DOID:4555 ovarian large-cell neuroendocrine carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003053 choroid plexus meningioma skos:exactMatch DOID:4584 choroid plexus meningioma semapv:ManualMappingCuration 2024-04-21 MONDO:0003054 benign meningioma skos:exactMatch DOID:4587 benign meningioma semapv:ManualMappingCuration 2024-04-21 MONDO:0003057 pediatric meningioma skos:exactMatch DOID:4593 childhood meningioma semapv:ManualMappingCuration 2024-04-21 MONDO:0003059 bile duct cancer skos:exactMatch DOID:4606 bile duct cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003060 biliary tract cancer skos:exactMatch DOID:4607 biliary tract cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003061 benign muscle neoplasm skos:exactMatch DOID:2691 myoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003061 benign muscle neoplasm skos:exactMatch DOID:461 muscle benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003064 inverted transitional cell papilloma skos:exactMatch DOID:4630 inverted transitional papilloma semapv:ManualMappingCuration 2023-03-17 MONDO:0003066 submandibular adenitis skos:exactMatch DOID:4636 submandibular adenitis semapv:ManualMappingCuration 2024-04-21 MONDO:0003067 cervical lymphadenitis skos:exactMatch DOID:4637 cervical adenitis semapv:ManualMappingCuration 2024-04-21 MONDO:0003073 trilateral retinoblastoma skos:exactMatch DOID:4647 trilateral retinoblastoma semapv:ManualMappingCuration 2023-11-19 MONDO:0003076 unilateral retinoblastoma skos:exactMatch DOID:4651 unilateral retinoblastoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003081 thalamic disorder skos:exactMatch DOID:4662 thalamic disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003086 thymic mucoepidermoid carcinoma skos:exactMatch DOID:4678 thymus mucoepidermoid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003087 mucoepidermoid breast carcinoma skos:exactMatch DOID:4679 breast mucoepidermoid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma skos:exactMatch DOID:4681 bile duct mucoepidermoid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003090 extrahepatic bile duct carcinoma skos:exactMatch DOID:4682 extrahepatic bile duct carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003091 cutaneous mucoepidermoid carcinoma skos:exactMatch DOID:4683 cutaneous mucoepidermoid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003092 lacrimal gland mucoepidermoid carcinoma skos:exactMatch DOID:4685 lacrimal gland mucoepidermoid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003093 mucoepidermoid esophageal carcinoma skos:exactMatch DOID:4686 mucoepidermoid esophageal carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003095 laryngeal mucoepidermoid carcinoma skos:exactMatch DOID:4688 laryngeal mucoepidermoid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003097 childhood mediastinal neurogenic neoplasm skos:exactMatch DOID:4690 childhood mediastinal neurogenic tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003098 mediastinal neural neoplasm skos:exactMatch DOID:4691 malignant mediastinal neurogenic neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003100 nerve plexus neoplasm skos:exactMatch DOID:4693 nerve plexus neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003103 nerve root neoplasm skos:exactMatch DOID:4698 nerve root neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003104 epicardium cancer skos:exactMatch DOID:4699 epicardium cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0003107 infratentorial cancer skos:exactMatch DOID:4706 infratentorial cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003110 skin hemangioma skos:exactMatch DOID:471 skin hemangioma semapv:ManualMappingCuration 2023-03-17 MONDO:0003111 gastric neuroendocrine neoplasm skos:exactMatch DOID:4715 gastric neuroendocrine neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003112 malignant gastric germ cell tumor skos:exactMatch DOID:4716 malignant gastric germ cell tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0003113 extragonadal germ cell cancer skos:exactMatch DOID:4717 extragonadal germ cell cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003120 mixed testicular germ cell cancer skos:exactMatch DOID:4743 mixed testicular germ cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003122 striatonigral degeneration skos:exactMatch DOID:4751 striatonigral degeneration semapv:ManualMappingCuration 2023-03-17 MONDO:0003124 testicular Leydig cell tumor skos:exactMatch DOID:4756 testicular Leydig cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003125 testicular sex cord-stromal neoplasm skos:exactMatch DOID:4757 testicular sex cord-stromal neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003126 breast hemangioma skos:exactMatch DOID:476 breast hemangioma semapv:ManualMappingCuration 2024-04-21 MONDO:0003134 proliferative glomerulonephritis skos:exactMatch DOID:4778 proliferative glomerulonephritis semapv:ManualMappingCuration 2023-11-19 MONDO:0003142 intracranial primitive neuroectodermal tumor skos:exactMatch DOID:4788 intracranial primitive neuroectodermal tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0003143 angiokeratoma skos:exactMatch DOID:479 angiokeratoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003145 supratentorial primitive neuroectodermal tumor skos:exactMatch DOID:4791 supratentorial primitive neuroectodermal tumor semapv:ManualMappingCuration 2023-11-19 MONDO:0003153 adult brainstem glioma skos:exactMatch DOID:4813 adult brain stem glioma semapv:ManualMappingCuration 2024-04-21 MONDO:0003154 hemangioma of peripheral nerve skos:exactMatch DOID:482 hemangioma of peripheral nerve semapv:ManualMappingCuration 2024-04-21 MONDO:0003157 disappearing bone disease skos:exactMatch DOID:4837 Gorham's disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003158 malignant myoepithelioma skos:exactMatch DOID:4838 myoepithelial carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003159 vascular hemostatic disease skos:exactMatch DOID:484 vascular hemostatic disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003164 cauda equina neoplasm skos:exactMatch DOID:4847 cauda equina neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003165 cerebellar astrocytoma skos:exactMatch DOID:4848 cerebellar astrocytoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003168 cerebellar pilocytic astrocytoma skos:exactMatch DOID:4853 pilocytic astrocytoma of cerebellum semapv:ManualMappingCuration 2023-03-17 MONDO:0003169 diencephalic astrocytomas skos:exactMatch DOID:4855 diencephalic astrocytoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003171 pineal gland astrocytoma skos:exactMatch DOID:4858 pineal gland astrocytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003173 brain stem astrocytic neoplasm skos:exactMatch DOID:4860 brain stem astrocytic neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003175 salivary gland adenoid cystic carcinoma skos:exactMatch DOID:4866 salivary gland adenoid cystic carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003177 prostate adenoid cystic carcinoma skos:exactMatch DOID:4868 prostate adenoid cystic carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003180 cutaneous adenocystic carcinoma skos:exactMatch DOID:4871 cutaneous adenocystic carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003181 lung adenoid cystic carcinoma skos:exactMatch DOID:4872 lung adenoid cystic carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003182 anterior horn disorder skos:exactMatch DOID:4873 anterior horn cell disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003186 esophageal adenoid cystic carcinoma skos:exactMatch DOID:4878 esophageal adenoid cystic carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003187 Bartholin gland adenoid cystic carcinoma skos:exactMatch DOID:4879 Bartholin's gland adenoid cystic carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003189 middle ear adenocarcinoma skos:exactMatch DOID:4892 middle ear adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003190 middle ear carcinoma skos:exactMatch DOID:4893 middle ear carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003193 bile duct adenocarcinoma skos:exactMatch DOID:4896 bile duct adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003194 hemangioma of lung skos:exactMatch DOID:490 hemangioma of lung semapv:ManualMappingCuration 2023-03-17 MONDO:0003195 peritoneal serous adenocarcinoma skos:exactMatch DOID:4901 peritoneal serous adenocarcinoma semapv:ManualMappingCuration 2023-08-20 MONDO:0003196 appendix carcinoma skos:exactMatch DOID:4902 appendix carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003197 granular cell carcinoma skos:exactMatch DOID:4903 granular cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003199 anal carcinoma skos:exactMatch DOID:4908 anal carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003200 urethra adenocarcinoma skos:exactMatch DOID:4910 urethra adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003204 villous adenocarcinoma skos:exactMatch DOID:4917 villous adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003205 renal pelvis adenocarcinoma skos:exactMatch DOID:4918 renal pelvis adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003206 acquired hemangioma skos:exactMatch DOID:492 acquired hemangioma semapv:ManualMappingCuration 2023-03-17 MONDO:0003209 thymus gland adenocarcinoma skos:exactMatch DOID:4923 thymus adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003211 nasal cavity adenocarcinoma skos:exactMatch DOID:4930 nasal cavity adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003212 nasal cavity carcinoma skos:exactMatch DOID:4931 nasal cavity carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003214 apocrine adenocarcinoma skos:exactMatch DOID:4933 apocrine carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003215 apocrine sweat gland cancer skos:exactMatch DOID:4934 apocrine sweat gland cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003216 ureter adenocarcinoma skos:exactMatch DOID:4938 ureter adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003218 adenocarcinoma in situ skos:exactMatch DOID:4943 adenocarcinoma in situ semapv:ManualMappingCuration 2023-03-17 MONDO:0003219 gastroesophageal junction adenocarcinoma skos:exactMatch DOID:4944 gastroesophageal junction adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003222 central nervous system melanocytic neoplasm skos:exactMatch DOID:4955 central nervous system melanocytic neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003223 meninges hemangiopericytoma skos:exactMatch DOID:4957 meninges hemangiopericytoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003225 bone marrow disorder skos:exactMatch DOID:4961 bone marrow disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003234 optic nerve astrocytoma skos:exactMatch DOID:4991 optic nerve astrocytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003236 atypical polypoid adenomyoma skos:exactMatch DOID:4993 atypical polypoid adenomyoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003237 adenomyoma of uterine corpus skos:exactMatch DOID:4994 adenomyoma of uterine corpus semapv:ManualMappingCuration 2023-03-17 MONDO:0003241 central nervous system hemangioma skos:exactMatch DOID:501 central nervous system hemangioma semapv:ManualMappingCuration 2023-03-17 MONDO:0003243 hepatocellular clear cell carcinoma skos:exactMatch DOID:5016 hepatocellular clear cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003244 central nervous system mesenchymal non-meningothelial tumor skos:exactMatch DOID:502 central nervous system mesenchymal non-meningothelial tumor semapv:ManualMappingCuration 2023-09-24 MONDO:0003248 adult pineal parenchymal tumor skos:exactMatch DOID:5031 adult pineal parenchymal tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003249 pineal gland cancer skos:exactMatch DOID:5032 pineal gland cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003250 benign granular cell tumor skos:exactMatch DOID:5039 myoblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003251 esophageal granular cell tumor skos:exactMatch DOID:5040 malignant granular cell esophageal tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003252 granular cell cancer skos:exactMatch DOID:5042 malignant granular cell myoblastoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003253 vulvar granular cell tumor skos:exactMatch DOID:5043 vulvar granular cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003254 cardiac granular cell neoplasm skos:exactMatch DOID:5044 cardiac granular cell neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003255 mediastinal granular cell myoblastoma skos:exactMatch DOID:5046 mediastinal granular cell myoblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003257 posterior pituitary gland neoplasm skos:exactMatch DOID:5048 posterior pituitary gland neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003260 adult cerebellar neoplasm skos:exactMatch DOID:5056 adult cerebellar neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003263 childhood cerebellar neoplasm skos:exactMatch DOID:5059 childhood cerebellar neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003265 adjustment disorder skos:exactMatch DOID:507 adjustment disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0003268 mixed glioma skos:exactMatch DOID:5076 mixed glioma semapv:ManualMappingCuration 2023-03-17 MONDO:0003274 thoracic cancer skos:exactMatch DOID:5093 thoracic cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003275 middle ear cancer skos:exactMatch DOID:5099 middle ear cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003276 middle ear disorder skos:exactMatch DOID:5100 middle ear disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003277 malignant ear neoplasm skos:exactMatch DOID:5101 ear cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003278 inner ear cancer skos:exactMatch DOID:5102 inner ear cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0003281 ovarian cystic teratoma skos:exactMatch DOID:5118 ovarian cystic teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003284 mediastinum leiomyoma skos:exactMatch DOID:5123 mediastinum leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003285 fallopian tube leiomyoma skos:exactMatch DOID:5124 fallopian tube leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003286 extrahepatic bile duct leiomyoma skos:exactMatch DOID:5125 extrahepatic bile duct leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003287 central nervous system leiomyoma skos:exactMatch DOID:5126 central nervous system leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003291 leiomyoma cutis skos:exactMatch DOID:5132 leiomyoma cutis semapv:ManualMappingCuration 2024-04-21 MONDO:0003292 anus leiomyoma skos:exactMatch DOID:5134 anus leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003293 lung leiomyoma skos:exactMatch DOID:5136 lung leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003294 pericardium leiomyoma skos:exactMatch DOID:5137 pericardium leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003295 leiomyomatosis skos:exactMatch DOID:5138 leiomyomatosis semapv:ManualMappingCuration 2023-03-17 MONDO:0003297 gallbladder leiomyoma skos:exactMatch DOID:5140 gallbladder leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003298 vulvar leiomyoma skos:exactMatch DOID:5142 vulvar leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003299 colorectal leiomyoma skos:exactMatch DOID:5143 large bowel leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003300 appendix leiomyoma skos:exactMatch DOID:5146 appendix leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003312 ovarian endometrioid stromal and related neoplasms skos:exactMatch DOID:5169 ovarian endometrioid stromal sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003313 endometrioid stromal sarcoma of the vagina skos:exactMatch DOID:5170 vaginal endometrial stromal sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003314 endometrioid stromal and related neoplasms of the vagina skos:exactMatch DOID:5171 vaginal endometrial stromal tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003315 endometrium carcinoma in situ skos:exactMatch DOID:5172 endometrium carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0003319 scrotum neoplasm skos:exactMatch DOID:518 scrotum neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003321 hereditary Wilms tumor skos:exactMatch DOID:5183 hereditary Wilms' tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0003327 peripheral ganglioneuroblastoma skos:exactMatch DOID:5195 peripheral nervous system ganglioneuroblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003331 ovarian monodermal teratoma skos:exactMatch DOID:5207 monodermal teratoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003332 malignant struma ovarii skos:exactMatch DOID:5208 malignant struma ovarii semapv:ManualMappingCuration 2024-04-21 MONDO:0003333 benign struma ovarii skos:exactMatch DOID:5209 benign struma ovarii semapv:ManualMappingCuration 2024-04-21 MONDO:0003334 demyelinating polyneuropathy skos:exactMatch DOID:5214 demyelinating polyneuropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0003335 chronic polyneuropathy skos:exactMatch DOID:5221 chronic polyneuropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0003337 acute hemorrhagic encephalitis skos:exactMatch DOID:5224 acute hemorrhagic encephalitis semapv:ManualMappingCuration 2023-03-17 MONDO:0003340 malignant glomus tumor skos:exactMatch DOID:5233 glomangiosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003342 benign perivascular tumor skos:exactMatch DOID:5238 benign perivascular tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0003343 retinal hemangioblastoma skos:exactMatch DOID:5240 retinal hemangioblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003346 central nervous system vasculitis skos:exactMatch DOID:525 central nervous system vasculitis semapv:ManualMappingCuration 2023-03-17 MONDO:0003349 central nervous system leiomyosarcoma skos:exactMatch DOID:5254 central nervous system leiomyosarcoma semapv:ManualMappingCuration 2023-09-24 MONDO:0003350 granular cell leiomyosarcoma skos:exactMatch DOID:5258 granular cell leiomyosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003351 colon leiomyosarcoma skos:exactMatch DOID:5259 colon leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003352 colon sarcoma skos:exactMatch DOID:5260 colon sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003353 heart leiomyosarcoma skos:exactMatch DOID:5261 heart leiomyosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003354 heart sarcoma skos:exactMatch DOID:5262 heart sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003357 lung leiomyosarcoma skos:exactMatch DOID:5265 lung leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003358 anus leiomyosarcoma skos:exactMatch DOID:5267 anus leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003360 small intestine leiomyosarcoma skos:exactMatch DOID:5271 small intestine leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003361 small intestinal sarcoma skos:exactMatch DOID:5272 small intestinal sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003362 cutaneous leiomyosarcoma skos:exactMatch DOID:5273 cutaneous leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003363 malignant dermis tumor skos:exactMatch DOID:5274 malignant dermis tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0003364 gallbladder leiomyosarcoma skos:exactMatch DOID:5275 gallbladder leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003365 esophagus leiomyosarcoma skos:exactMatch DOID:5276 esophagus leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003366 hydrarthrosis skos:exactMatch DOID:528 hydrarthrosis semapv:ManualMappingCuration 2023-03-17 MONDO:0003367 gastric leiomyosarcoma skos:exactMatch DOID:5280 gastric leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003368 prostate leiomyosarcoma skos:exactMatch DOID:5282 prostate leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003369 vagina leiomyosarcoma skos:exactMatch DOID:5283 vagina leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003370 retroperitoneal leiomyosarcoma skos:exactMatch DOID:5284 retroperitoneal leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003371 breast leiomyosarcoma skos:exactMatch DOID:5285 breast leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003373 kidney leiomyosarcoma skos:exactMatch DOID:5287 kidney leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003374 laryngeal leiomyosarcoma skos:exactMatch DOID:5288 larynx leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003376 mediastinum leiomyosarcoma skos:exactMatch DOID:5292 mediastinum leiomyosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003377 extrahepatic bile duct leiomyosarcoma skos:exactMatch DOID:5293 extrahepatic bile duct leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003378 liver leiomyosarcoma skos:exactMatch DOID:5296 liver leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003379 rectum leiomyosarcoma skos:exactMatch DOID:5297 rectum leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003383 fallopian tube clear cell adenocarcinoma skos:exactMatch DOID:5301 fallopian tube clear cell adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003384 uterine ligament clear cell adenocarcinoma skos:exactMatch DOID:5302 uterine ligament clear cell adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003386 bladder clear cell adenocarcinoma skos:exactMatch DOID:5306 bladder clear cell adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003387 urethra clear cell adenocarcinoma skos:exactMatch DOID:5307 urethra clear cell adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003388 ampulla of vater clear cell adenocarcinoma skos:exactMatch DOID:5308 ampulla of Vater clear cell adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003391 vulvar alveolar soft part sarcoma skos:exactMatch DOID:5313 vulvar alveolar soft part sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003392 fallopian tube germ cell tumor skos:exactMatch DOID:5324 fallopian tube germ cell cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0003393 thymus gland disorder skos:exactMatch DOID:533 thymus gland disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003395 testicular granulosa cell tumor skos:exactMatch DOID:5331 testicular granulosa cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003396 epulis skos:exactMatch DOID:5337 epulis semapv:ManualMappingCuration 2024-04-21 MONDO:0003399 pineal region yolk sac tumor skos:exactMatch DOID:5341 pineal region yolk sac tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003400 childhood endodermal sinus tumor skos:exactMatch DOID:5342 childhood endodermal sinus tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003401 central nervous system endodermal sinus tumor skos:exactMatch DOID:5343 central nervous system endodermal sinus tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003403 testicular non-seminomatous germ cell cancer skos:exactMatch DOID:5345 testicular non-seminomatous germ cell cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003404 adult yolk sac tumor skos:exactMatch DOID:5348 adult endodermal sinus tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003405 adult central nervous system germ cell tumor skos:exactMatch DOID:5349 central nervous system adult germ cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003406 sleep-wake disorder skos:exactMatch DOID:535 sleep disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0003408 ovarian primitive germ cell tumor skos:exactMatch DOID:5351 ovarian primitive germ cell tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0003409 colonic disorder skos:exactMatch DOID:5353 colonic disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003410 Wolffian duct adenocarcinoma skos:exactMatch DOID:5368 Wolffian duct adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003411 breast hemangiopericytoma skos:exactMatch DOID:5370 breast hemangiopericytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003412 retroperitoneal hemangiopericytoma skos:exactMatch DOID:5373 retroperitoneal hemangiopericytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003413 hair follicle neoplasm skos:exactMatch DOID:5375 hair follicle neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003419 Bartholin gland adenoma skos:exactMatch DOID:5382 Bartholin's gland adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003420 bile duct cystadenoma skos:exactMatch DOID:5384 bile duct cystadenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003422 lung adenoma skos:exactMatch DOID:5386 lung adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003423 middle ear adenoma skos:exactMatch DOID:5387 middle ear adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003425 ophthalmoplegia skos:exactMatch DOID:539 ophthalmoplegia semapv:ManualMappingCuration 2023-11-19 MONDO:0003427 bronchus adenoma skos:exactMatch DOID:5391 bronchus adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003428 brain hemangioma skos:exactMatch DOID:5393 brain angioma semapv:ManualMappingCuration 2023-11-19 MONDO:0003429 functioning pituitary gland adenoma skos:exactMatch DOID:5395 functioning pituitary adenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003430 prolactin producing pituitary tumor skos:exactMatch DOID:5396 prolactin producing pituitary tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0003431 lipoadenoma skos:exactMatch DOID:5398 lipoadenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003434 vaginal adenoma skos:exactMatch DOID:5402 vaginal adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003438 combined small cell lung carcinoma skos:exactMatch DOID:5421 lung combined type small cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003439 urinary bladder villous adenoma skos:exactMatch DOID:5427 urinary bladder villous adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003441 dystonic disorder skos:exactMatch DOID:543 dystonia semapv:ManualMappingCuration 2023-03-17 MONDO:0003442 bladder papillary urothelial neoplasm skos:exactMatch DOID:5432 bladder papillary transitional cell neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003443 papillary urothelial neoplasm skos:exactMatch DOID:5433 urinary tract papillary transitional cell benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003444 intrahepatic bile duct adenoma skos:exactMatch DOID:5437 intrahepatic bile duct adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003445 extrahepatic bile duct adenoma skos:exactMatch DOID:5438 extrahepatic bile duct adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003446 papillary hidradenoma skos:exactMatch DOID:5439 papillary hidradenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003448 benign spiradenoma skos:exactMatch DOID:5444 spiradenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003450 eccrine papillary adenoma skos:exactMatch DOID:5446 eccrine papillary adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003453 conjunctival intraepithelial neoplasm skos:exactMatch DOID:5465 conjunctival intraepithelial neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003454 conjunctival cancer skos:exactMatch DOID:5467 conjunctival cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003455 bile duct papillary neoplasm skos:exactMatch DOID:5468 biliary papillomatosis semapv:ManualMappingCuration 2023-03-17 MONDO:0003458 uterine corpus adenofibroma skos:exactMatch DOID:5475 uterine corpus adenofibroma semapv:ManualMappingCuration 2024-04-21 MONDO:0003461 fallopian tube serous adenofibroma skos:exactMatch DOID:5478 fallopian tube adenofibroma semapv:ManualMappingCuration 2024-04-21 MONDO:0003464 cystadenofibroma skos:exactMatch DOID:5482 cystadenofibroma semapv:ManualMappingCuration 2024-04-21 MONDO:0003466 spindle cell synovial sarcoma skos:exactMatch DOID:5487 spindle cell synovial sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003467 mediastinum synovial sarcoma skos:exactMatch DOID:5488 mediastinum synovial sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003468 biphasic synovial sarcoma skos:exactMatch DOID:5492 biphasic synovial sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003472 lice infestation skos:exactMatch DOID:5502 lice infestation semapv:ManualMappingCuration 2023-03-17 MONDO:0003473 spinal cord ependymoma skos:exactMatch DOID:5503 spinal cord ependymoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003477 brain stem ependymoma skos:exactMatch DOID:5508 brain stem ependymoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003478 childhood ependymoma skos:exactMatch DOID:5509 childhood ependymoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003480 pineal region dysgerminoma skos:exactMatch DOID:5510 pineal dysgerminoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003482 Pediculus humanus corporis infestation skos:exactMatch DOID:5513 Pediculus humanus corporis infestation semapv:ManualMappingCuration 2024-04-21 MONDO:0003490 ampulla of vater squamous cell carcinoma skos:exactMatch DOID:5527 ampulla of Vater squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003492 lacrimal gland squamous cell carcinoma skos:exactMatch DOID:5529 lacrimal gland squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003495 ovarian squamous cell neoplasm skos:exactMatch DOID:5532 ovarian squamous cell neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003497 renal pelvis squamous cell carcinoma skos:exactMatch DOID:5534 renal pelvis squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003500 squamous cell bile duct carcinoma skos:exactMatch DOID:5537 squamous cell bile duct carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003501 external ear squamous cell carcinoma skos:exactMatch DOID:5538 external ear squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003502 ureter squamous cell carcinoma skos:exactMatch DOID:5539 ureter squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003503 fallopian tube squamous cell carcinoma skos:exactMatch DOID:5540 fallopian tube squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003504 anal canal neuroendocrine neoplasm skos:exactMatch DOID:5545 anal neuroendocrine tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003506 pulmonary artery choriocarcinoma skos:exactMatch DOID:5547 pulmonary artery choriocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003509 pineal region choriocarcinoma skos:exactMatch DOID:5553 pineal region choriocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003510 malignant testicular germ cell tumor skos:exactMatch DOID:5556 testicular malignant germ cell cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003512 mediastinal mesenchymal tumor skos:exactMatch DOID:5560 mediastinal mesenchymal tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0003513 gastric teratoma skos:exactMatch DOID:5561 gastric teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003514 malignant teratoma skos:exactMatch DOID:5563 malignant teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003515 fallopian tube teratoma skos:exactMatch DOID:5564 fallopian tube teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003516 adult teratoma skos:exactMatch DOID:5565 adult teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003518 mediastinum teratoma skos:exactMatch DOID:5568 mediastinum teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003519 malignant syringoma skos:exactMatch DOID:5569 malignant syringoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch DOID:5577 gastrinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003524 gastric gastrin-producing neuroendocrine tumor skos:exactMatch DOID:5579 gastric gastrinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:exactMatch DOID:5580 pancreatic gastrinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003529 acute pyelonephritis skos:exactMatch DOID:559 acute pyelonephritis semapv:ManualMappingCuration 2024-04-21 MONDO:0003531 papillary eccrine carcinoma skos:exactMatch DOID:5591 eccrine papillary adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003532 breast papillary carcinoma skos:exactMatch DOID:5592 breast papillary carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003534 papillary thymic adenocarcinoma skos:exactMatch DOID:5595 papillary thymic adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003535 fallopian tube papillary adenocarcinoma skos:exactMatch DOID:5597 fallopian tube papillary adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003541 adult acute lymphoblastic leukemia skos:exactMatch DOID:5604 adult acute lymphocytic leukemia semapv:ManualMappingCuration 2023-03-17 MONDO:0003544 spinal cord cancer skos:exactMatch DOID:5612 spinal cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003546 third cranial nerve disorder skos:exactMatch DOID:562 third cranial nerve disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003548 adenosquamous breast carcinoma skos:exactMatch DOID:5623 adenosquamous breast carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003549 adenosquamous bile duct carcinoma skos:exactMatch DOID:5624 adenosquamous bile duct carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003550 esophageal adenosquamous carcinoma skos:exactMatch DOID:5625 esophageal adenosquamous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003551 thymic adenosquamous carcinoma skos:exactMatch DOID:5626 thymus adenosquamous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003553 ampulla of vater adenosquamous carcinoma skos:exactMatch DOID:5628 ampulla of Vater adenosquamous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003554 adenosquamous colon carcinoma skos:exactMatch DOID:5629 adenosquamous colon carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003555 Bartholin gland adenosquamous carcinoma skos:exactMatch DOID:5630 Bartholin's gland adenosquamous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003558 adenosquamous prostate carcinoma skos:exactMatch DOID:5634 adenosquamous prostate carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003561 malignant giant cell tumor of soft parts skos:exactMatch DOID:5638 malignant giant cell tumor of soft parts semapv:ManualMappingCuration 2023-03-17 MONDO:0003565 urethral villous adenoma skos:exactMatch DOID:5643 urethral villous adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003569 cranial nerve neuropathy skos:exactMatch DOID:5656 cranial nerve disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003572 nasopharyngeal type undifferentiated carcinoma skos:exactMatch DOID:5660 lymphoepithelioma-like carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003574 external ear cancer skos:exactMatch DOID:5665 external ear cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0003578 extragonadal nonseminomatous germ cell tumor skos:exactMatch DOID:5677 malignant extragonadal nonseminomatous germ cell tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0003582 hereditary breast ovarian cancer syndrome skos:exactMatch DOID:5683 hereditary breast ovarian cancer syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0003585 adult liposarcoma skos:exactMatch DOID:5693 adult liposarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003586 esophagus liposarcoma skos:exactMatch DOID:5694 esophagus liposarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003587 pediatric liposarcoma skos:exactMatch DOID:5695 childhood liposarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003588 larynx liposarcoma skos:exactMatch DOID:5696 larynx liposarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003589 liposarcoma of the ovary skos:exactMatch DOID:5697 liposarcoma of the ovary semapv:ManualMappingCuration 2024-04-21 MONDO:0003591 kidney liposarcoma skos:exactMatch DOID:5699 kidney liposarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003592 gastric liposarcoma skos:exactMatch DOID:5700 gastric liposarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003593 breast liposarcoma skos:exactMatch DOID:5701 breast liposarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003594 mixed liposarcoma skos:exactMatch DOID:5703 mixed liposarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003596 spindle cell liposarcoma skos:exactMatch DOID:5705 spindle cell liposarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003599 vulvar liposarcoma skos:exactMatch DOID:5711 vulvar liposarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003600 cutaneous liposarcoma skos:exactMatch DOID:5712 cutaneous liposarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003601 mediastinum liposarcoma skos:exactMatch DOID:5713 mediastinum liposarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003604 functioning pituitary gland neoplasm skos:exactMatch DOID:5716 hormone producing pituitary cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003606 adrenal medulla cancer skos:exactMatch DOID:5719 adrenal medulla cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003607 neuritis of upper limb skos:exactMatch DOID:572 mononeuritis of upper limb and mononeuritis multiplex semapv:ManualMappingCuration 2023-03-17 MONDO:0003608 optic atrophy skos:exactMatch DOID:5723 optic atrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease skos:exactMatch DOID:5726 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease semapv:ManualMappingCuration 2024-04-21 MONDO:0003612 uterine ligament cancer skos:exactMatch DOID:5727 uterine ligament cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0003617 chronic salpingitis skos:exactMatch DOID:5731 chronic salpingitis semapv:ManualMappingCuration 2024-04-21 MONDO:0003619 salpingitis skos:exactMatch DOID:5733 salpingitis semapv:ManualMappingCuration 2023-03-17 MONDO:0003624 acinic cell breast carcinoma skos:exactMatch DOID:5743 acinic cell breast carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003626 uterine ligament serous adenocarcinoma skos:exactMatch DOID:5747 uterine ligament serous adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003627 rheumatic pulmonary valve disease skos:exactMatch DOID:5748 rheumatic pulmonary valve disease semapv:ManualMappingCuration 2024-04-21 MONDO:0003630 pancreatic serous cystadenocarcinoma skos:exactMatch DOID:5751 pancreatic serous cystadenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003631 cervical serous adenocarcinoma skos:exactMatch DOID:5752 cervical serous adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003632 endocervicitis skos:exactMatch DOID:5757 endocervicitis semapv:ManualMappingCuration 2023-03-17 MONDO:0003633 malignant mesenchymoma skos:exactMatch DOID:5758 malignant mesenchymoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003635 sebaceous breast carcinoma skos:exactMatch DOID:5760 sebaceous breast carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003636 vulvar sebaceous carcinoma skos:exactMatch DOID:5761 vulvar sebaceous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003638 lung meningioma skos:exactMatch DOID:5764 lung meningioma semapv:ManualMappingCuration 2024-04-21 MONDO:0003641 central nervous system hematopoietic neoplasm skos:exactMatch DOID:5772 central nervous system hematologic cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003644 cavernous hemangioma of colon skos:exactMatch DOID:5775 cavernous hemangioma of colon semapv:ManualMappingCuration 2024-04-21 MONDO:0003646 rectum neuroendocrine neoplasm skos:exactMatch DOID:5777 rectum neuroendocrine neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch DOID:5784 esophageal neuroendocrine tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0003654 childhood parosteal osteosarcoma skos:exactMatch DOID:5809 childhood parosteal osteogenic sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003656 hemoglobinuria skos:exactMatch DOID:582 hemoglobinuria semapv:ManualMappingCuration 2023-03-17 MONDO:0003659 pediatric lymphoma skos:exactMatch DOID:5823 childhood lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003660 adult lymphoma skos:exactMatch DOID:5825 adult lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003661 breast lymphoma skos:exactMatch DOID:5826 breast lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003663 uterine ligament endometrioid adenocarcinoma skos:exactMatch DOID:5829 uterine ligament endometrioid adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003666 fallopian tube endometrioid adenocarcinoma skos:exactMatch DOID:5831 fallopian tube endometrioid adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003668 extragonadal seminoma skos:exactMatch DOID:5838 extragonadal seminoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003680 periosteal chondrosarcoma skos:exactMatch DOID:5859 periosteal chondrosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003680 periosteal chondrosarcoma skos:exactMatch DOID:5866 juxtacortical chondrosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003681 myxoid chondrosarcoma skos:exactMatch DOID:5861 myxoid chondrosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003684 clear cell chondrosarcoma skos:exactMatch DOID:5867 clear cell chondrosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003685 retroperitoneal germ cell neoplasm skos:exactMatch DOID:5874 retroperitoneal germ cell neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003686 apocrine sweat gland neoplasm skos:exactMatch DOID:5876 apocrine sweat gland neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003687 endocardium cancer skos:exactMatch DOID:5877 endocardium cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0003688 well differentiated papillary mesothelioma skos:exactMatch DOID:5884 benign intermediate mesothelioma semapv:ManualMappingCuration 2023-03-17 MONDO:0003689 familial hemolytic anemia skos:exactMatch DOID:589 congenital hemolytic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0003690 adult anaplastic ependymoma skos:exactMatch DOID:5890 malignant adult ependymoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003691 childhood malignant mesenchymoma skos:exactMatch DOID:5893 childhood malignant mesenchymoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003692 adult malignant mesenchymoma skos:exactMatch DOID:5894 adult malignant mesenchymoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003697 non-invasive verrucous carcinoma of the penis skos:exactMatch DOID:5907 penis non-invasive verrucous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003698 penis verrucous carcinoma skos:exactMatch DOID:5908 penis verrucous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003700 brachial plexus neoplasm skos:exactMatch DOID:5913 brachial plexus neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003704 uterine corpus diffuse leiomyomatosis skos:exactMatch DOID:5916 uterine corpus leiomyomatosis semapv:ManualMappingCuration 2024-04-21 MONDO:0003704 uterine corpus diffuse leiomyomatosis skos:exactMatch DOID:5917 uterine corpus diffuse leiomyomatosis semapv:ManualMappingCuration 2024-04-21 MONDO:0003710 ovarian mixed germ cell neoplasm skos:exactMatch DOID:5936 ovarian mixed germ cell neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003714 bladder urachal squamous cell carcinoma skos:exactMatch DOID:5957 bladder urachal squamous cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003715 bladder urachal carcinoma skos:exactMatch DOID:5958 bladder urachal carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003716 renal pelvis papillary urothelial carcinoma skos:exactMatch DOID:5973 kidney pelvis papillary carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003717 renal pelvis papillary tumor skos:exactMatch DOID:5975 renal pelvis papillary tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003719 renal pelvis neoplasm skos:exactMatch DOID:5977 renal pelvis benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003720 kidney fibrosarcoma skos:exactMatch DOID:5982 kidney fibrosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003721 kidney osteogenic sarcoma skos:exactMatch DOID:5983 kidney osteogenic sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003724 non-proliferative fibrocystic change of the breast skos:exactMatch DOID:5997 non-proliferative fibrocystic change of the breast semapv:ManualMappingCuration 2023-03-17 MONDO:0003728 breast fibrosarcoma skos:exactMatch DOID:6001 breast fibrosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003731 adult central nervous system teratoma skos:exactMatch DOID:6015 adult central nervous system teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003734 adult central nervous system immature teratoma skos:exactMatch DOID:6018 adult central nervous system immature teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003735 central nervous system immature teratoma skos:exactMatch DOID:6019 central nervous system immature teratoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003739 selective immunoglobulin deficiency disease skos:exactMatch DOID:6025 selective immunoglobulin deficiency disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003741 juvenile type testicular granulosa cell tumor skos:exactMatch DOID:6032 juvenile type testicular granulosa cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003742 heart fibrosarcoma skos:exactMatch DOID:6033 heart fibrosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003743 heart malignant hemangiopericytoma skos:exactMatch DOID:6034 heart malignant hemangiopericytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003744 spindle cell intraocular melanoma skos:exactMatch DOID:6037 spindle cell intraocular melanoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003745 choroid spindle cell melanoma skos:exactMatch DOID:6041 choroid spindle cell melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003746 ciliary body spindle cell melanoma skos:exactMatch DOID:6043 ciliary body spindle cell melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003750 childhood central nervous system germ cell tumor skos:exactMatch DOID:6052 central nervous system childhood germ cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003751 childhood germ cell tumor skos:exactMatch DOID:6053 childhood germ cell cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003755 urinary tract non-invasive transitional cell neoplasm skos:exactMatch DOID:6065 urinary tract non-invasive transitional cell neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003756 ovarian mucinous neoplasm skos:exactMatch DOID:6067 ovarian mucinous neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003758 childhood testicular germ cell tumor skos:exactMatch DOID:6082 childhood testicular germ cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003759 childhood ovarian yolk sac tumor skos:exactMatch DOID:6083 childhood ovarian endodermal sinus tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003760 pediatric ovarian germ cell tumor skos:exactMatch DOID:6084 childhood ovarian germ cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003761 leptomeningeal melanoma skos:exactMatch DOID:6085 meningeal melanoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003762 malignant leptomeningeal tumor skos:exactMatch DOID:6086 malignant leptomeningeal neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003764 pediatric leptomeningeal melanoma skos:exactMatch DOID:6089 childhood leptomeningeal melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003766 thalamic cancer skos:exactMatch DOID:6098 thalamic neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0003769 herpetic gastritis skos:exactMatch DOID:6102 herpetic gastritis semapv:ManualMappingCuration 2024-04-21 MONDO:0003772 cerebral meningioma skos:exactMatch DOID:6112 cerebral meningioma semapv:ManualMappingCuration 2024-04-21 MONDO:0003776 renal pelvis inverted papilloma skos:exactMatch DOID:6118 renal pelvis inverted papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0003777 renal pelvis urothelial papilloma skos:exactMatch DOID:6119 renal pelvis urothelial papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0003778 inborn error of immunity skos:exactMatch DOID:612 primary immunodeficiency disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003783 lymphopenia skos:exactMatch DOID:614 lymphopenia semapv:ManualMappingCuration 2023-03-17 MONDO:0003784 nasal cavity carcinoma in situ skos:exactMatch DOID:6148 nasal cavity carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0003786 childhood testicular choriocarcinoma skos:exactMatch DOID:6160 childhood choriocarcinoma of the testis semapv:ManualMappingCuration 2024-04-21 MONDO:0003787 childhood testicular mixed germ cell cancer skos:exactMatch DOID:6161 childhood testicular mixed germ cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0003788 childhood embryonal testis carcinoma skos:exactMatch DOID:6162 childhood embryonal testis carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003789 hereditary papillary renal cell carcinoma skos:exactMatch DOID:6163 familial renal papillary carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003796 rectum Kaposi sarcoma skos:exactMatch DOID:6190 rectum Kaposi's sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003801 corneal intraepithelial neoplasm skos:exactMatch DOID:6198 corneal intraepithelial neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003802 cornea cancer skos:exactMatch DOID:6199 cornea cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0003805 malignant pericardial mesothelioma skos:exactMatch DOID:6201 pericardial mesothelioma semapv:ManualMappingCuration 2023-03-17 MONDO:0003808 mediastinal extraskeletal osteosarcoma skos:exactMatch DOID:6208 mediastinal osteogenic sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003809 malignant mediastinum hemangiopericytoma skos:exactMatch DOID:6209 malignant mediastinum hemangiopericytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003812 ovarian endometrial cancer skos:exactMatch DOID:6212 ovarian endometrial cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0003813 ovarian papillary tumor skos:exactMatch DOID:6214 ovarian papillary neoplasm semapv:ManualMappingCuration 2023-11-19 MONDO:0003816 articular cartilage disorder skos:exactMatch DOID:6227 articular cartilage disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003819 childhood teratoma of the ovary skos:exactMatch DOID:6230 childhood teratoma of the ovary semapv:ManualMappingCuration 2024-04-21 MONDO:0003821 ovarian biphasic or triphasic teratoma skos:exactMatch DOID:6232 ovarian biphasic or triphasic teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003822 non-invasive bladder papillary urothelial neoplasm skos:exactMatch DOID:6239 non-invasive bladder papillary urothelial neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003824 hereditary kidney oncocytoma skos:exactMatch DOID:6244 familial renal oncocytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003825 kidney oncocytoma skos:exactMatch DOID:6245 renal oncocytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003826 mediastinum seminoma skos:exactMatch DOID:6249 mediastinum seminoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003827 transient hypogammaglobulinemia skos:exactMatch DOID:625 transient hypogammaglobulinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0003828 growth hormone-producing pituitary gland carcinoma skos:exactMatch DOID:6256 malignant growth hormone secreting neoplasm of pituitary semapv:ManualMappingCuration 2024-04-21 MONDO:0003832 complement deficiency skos:exactMatch DOID:626 complement deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0003835 gastric cardia adenocarcinoma skos:exactMatch DOID:6271 gastric cardia adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003837 TSH producing pituitary tumor skos:exactMatch DOID:6275 TSH producing pituitary tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0003840 epicardium lipoma skos:exactMatch DOID:6284 epicardium lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003841 heart lipoma skos:exactMatch DOID:6285 heart lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003842 childhood cerebellar astrocytic neoplasm skos:exactMatch DOID:6286 childhood cerebellar astrocytic neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0003843 cerebral hemisphere lipoma skos:exactMatch DOID:6291 cerebral hemisphere lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003844 central nervous system lipoma skos:exactMatch DOID:6293 central nervous system lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003846 viral esophagitis skos:exactMatch DOID:6297 viral esophagitis semapv:ManualMappingCuration 2024-04-21 MONDO:0003853 Bartholin gland adenocarcinoma skos:exactMatch DOID:6316 Bartholin's gland adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003856 adult malignant hemangiopericytoma skos:exactMatch DOID:6332 adult malignant hemangiopericytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003861 vulvar eccrine adenocarcinoma skos:exactMatch DOID:6339 vulvar eccrine adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003865 acral lentiginous melanoma skos:exactMatch DOID:6367 acral lentiginous melanoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003866 liver extraskeletal osteosarcoma skos:exactMatch DOID:6370 hepatic osteogenic sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003869 childhood brain stem glioma skos:exactMatch DOID:6383 childhood brain stem glioma semapv:ManualMappingCuration 2023-03-17 MONDO:0003870 childhood brainstem astrocytoma skos:exactMatch DOID:6386 childhood brainstem astrocytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003874 ovarian serous surface papillary adenocarcinoma skos:exactMatch DOID:6408 ovary papillary carcinoma semapv:ManualMappingCuration 2023-11-19 MONDO:0003876 eyelid carcinoma skos:exactMatch DOID:6425 eyelid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003878 malignant choroid melanoma skos:exactMatch DOID:6438 malignant choroid melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003881 vulvar apocrine adenocarcinoma skos:exactMatch DOID:6448 vulvar apocrine adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003882 central nervous system fibrosarcoma skos:exactMatch DOID:6451 central nervous system fibrosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003884 lipoma of the rectum skos:exactMatch DOID:6459 rectal lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003885 colorectal lipoma skos:exactMatch DOID:6460 large intestine lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003886 mucinous cystadenofibroma skos:exactMatch DOID:6468 mucinous cystadenofibroma semapv:ManualMappingCuration 2024-04-21 MONDO:0003887 ovarian mucinous adenofibroma skos:exactMatch DOID:6469 ovarian mucinous adenofibroma semapv:ManualMappingCuration 2024-04-21 MONDO:0003890 infiltrating bladder urothelial carcinoma skos:exactMatch DOID:6477 invasive bladder transitional cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003891 bladder signet ring cell adenocarcinoma skos:exactMatch DOID:6481 bladder signet ring cell adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003892 acinar lung adenocarcinoma skos:exactMatch DOID:6482 lung acinar adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003896 breast capillary hemangioma skos:exactMatch DOID:6491 breast capillary hemangioma semapv:ManualMappingCuration 2024-04-21 MONDO:0003897 breast epithelioid hemangioma skos:exactMatch DOID:6492 breast epithelioid hemangioma semapv:ManualMappingCuration 2024-04-21 MONDO:0003898 pediatric myxoid chondrosarcoma skos:exactMatch DOID:6494 childhood myxoid chondrosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003899 adult myxoid chondrosarcoma skos:exactMatch DOID:6495 adult myxoid chondrosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003901 cerebellar hemangioblastoma skos:exactMatch DOID:6500 cerebellar angioblastoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003902 brain stem hemangioblastoma skos:exactMatch DOID:6501 brain stem angioblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003909 Bartholin gland adenomyoma skos:exactMatch DOID:6518 Bartholin's gland adenomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003911 ciliary body mixed cell melanoma skos:exactMatch DOID:6523 ciliary body mixed cell melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003912 malignant ciliary body melanoma skos:exactMatch DOID:6524 malignant ciliary body melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003913 choroid mixed cell melanoma skos:exactMatch DOID:6525 choroid mixed cell melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003915 cortical thymoma skos:exactMatch DOID:6530 thymoma type B2 semapv:ManualMappingCuration 2023-03-17 MONDO:0003916 overnutrition skos:exactMatch DOID:654 overnutrition semapv:ManualMappingCuration 2023-03-17 MONDO:0003917 heart lymphoma skos:exactMatch DOID:6547 heart lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003922 ovarian clear cell malignant adenofibroma skos:exactMatch DOID:6554 ovarian clear cell malignant adenofibroma semapv:ManualMappingCuration 2023-03-17 MONDO:0003923 ethmoid sinus Schneiderian papilloma skos:exactMatch DOID:6559 ethmoid sinus Schneiderian papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0003925 ethmoid sinus inverted papilloma skos:exactMatch DOID:6562 ethmoid sinus inverted papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0003926 neurilemmoma of the pleura skos:exactMatch DOID:6564 neurilemmoma of the pleura semapv:ManualMappingCuration 2024-04-21 MONDO:0003930 non-invasive bladder urothelial carcinoma skos:exactMatch DOID:6571 non-invasive bladder urothelial carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003931 childhood optic tract astrocytoma skos:exactMatch DOID:6575 childhood optic tract astrocytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003932 childhood optic nerve glioma skos:exactMatch DOID:6576 childhood optic nerve glioma semapv:ManualMappingCuration 2024-04-21 MONDO:0003934 breast apocrine carcinoma skos:exactMatch DOID:6581 breast apocrine carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003936 invasive tubular breast carcinoma skos:exactMatch DOID:6587 breast tubular carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003937 spondylitis skos:exactMatch DOID:6590 spondylitis semapv:ManualMappingCuration 2023-03-17 MONDO:0003939 muscle tissue disorder skos:exactMatch DOID:0080000 muscular disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003939 muscle tissue disorder skos:exactMatch DOID:66 muscle tissue disease semapv:ManualMappingCuration 2023-03-17 MONDO:0003944 endobronchial leiomyoma skos:exactMatch DOID:6608 endobronchial leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003945 bone epithelioid hemangioma skos:exactMatch DOID:6610 bone epithelioid hemangioma semapv:ManualMappingCuration 2024-04-21 MONDO:0003946 vaginal villous adenoma skos:exactMatch DOID:6613 vaginal villous adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003947 hyper-IgM syndrome skos:exactMatch DOID:0080544 hyper IgM syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0003948 cerebral hemangioma skos:exactMatch DOID:6621 cerebral angioma semapv:ManualMappingCuration 2023-11-19 MONDO:0003950 nipple carcinoma skos:exactMatch DOID:6629 nipple carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003951 scrotal hemangioma skos:exactMatch DOID:663 scrotal angioma semapv:ManualMappingCuration 2024-04-21 MONDO:0003952 adult central nervous system choriocarcinoma skos:exactMatch DOID:6634 adult central nervous system choriocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003953 pediatric CNS choriocarcinoma skos:exactMatch DOID:6639 childhood CNS choriocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003954 angiokeratoma of Fordyce skos:exactMatch DOID:664 angiokeratoma of Fordyce semapv:ManualMappingCuration 2024-04-21 MONDO:0003957 adult pineoblastoma skos:exactMatch DOID:6648 adult pineoblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003958 childhood central nervous system immature teratoma skos:exactMatch DOID:6654 childhood central nervous system immature teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003959 breast large cell neuroendocrine carcinoma skos:exactMatch DOID:6657 breast large cell neuroendocrine carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003960 pulmonary large cell neuroendocrine carcinoma skos:exactMatch DOID:6658 pulmonary large cell neuroendocrine carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003976 malignant type AB thymoma skos:exactMatch DOID:6723 malignant type AB thymoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003978 colon small cell neuroendocrine carcinoma skos:exactMatch DOID:6727 colon small cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003979 intrahepatic bile duct cystadenoma skos:exactMatch DOID:6733 intrahepatic bile duct cystadenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003982 bilateral breast carcinoma skos:exactMatch DOID:6741 bilateral breast cancer semapv:ManualMappingCuration 2023-11-19 MONDO:0003987 lung lymphoma skos:exactMatch DOID:6760 lung lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0003990 malignant breast myoepithelioma skos:exactMatch DOID:6776 breast myoepithelial carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0003997 colon Kaposi sarcoma skos:exactMatch DOID:6804 colon Kaposi sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004000 childhood pilocytic astrocytoma skos:exactMatch DOID:6812 childhood pilocytic astrocytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004001 compartment syndrome skos:exactMatch DOID:682 compartment syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0004004 motor nerve neuritis skos:exactMatch DOID:683 motor neuritis semapv:ManualMappingCuration 2024-04-21 MONDO:0004007 breast intraductal proliferative lesion skos:exactMatch DOID:6839 breast intraductal proliferative lesion semapv:ManualMappingCuration 2023-03-17 MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma skos:exactMatch DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004015 pineal region teratoma skos:exactMatch DOID:6856 pineal region teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004021 mediastinal malignant lymphoma skos:exactMatch DOID:6868 mediastinal malignant lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004024 spinal cord neuroblastoma skos:exactMatch DOID:6871 spinal cord neuroblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004028 small intestinal fibrosarcoma skos:exactMatch DOID:6880 small bowel fibrosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004030 ureter transitional cell carcinoma skos:exactMatch DOID:6888 ureter transitional cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004034 eye lymphoma skos:exactMatch DOID:6903 eye lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004037 retinal edema skos:exactMatch DOID:6929 retinal edema semapv:ManualMappingCuration 2023-03-17 MONDO:0004040 urinary bladder inverted papilloma skos:exactMatch DOID:6932 urinary bladder inverted papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0004041 urothelial papilloma skos:exactMatch DOID:6933 bladder transitional cell papilloma semapv:ManualMappingCuration 2023-03-17 MONDO:0004042 urethra inverted papilloma skos:exactMatch DOID:6934 urethra inverted papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0004043 ureter inverted papilloma skos:exactMatch DOID:6935 ureter inverted papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0004044 ureter urothelial papilloma skos:exactMatch DOID:6936 ureter urothelial papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0004046 childhood brain meningioma skos:exactMatch DOID:6939 childhood brain meningioma semapv:ManualMappingCuration 2024-04-21 MONDO:0004048 immature gastric teratoma skos:exactMatch DOID:6948 malignant gastric teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004050 telangiectatic osteogenic sarcoma skos:exactMatch DOID:6951 telangiectatic osteogenic sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004056 bladder papillary urothelial carcinoma skos:exactMatch DOID:6975 bladder urothelial papillary carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004064 iris melanoma skos:exactMatch DOID:6994 malignant iris melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004067 gallbladder mucinous adenocarcinoma skos:exactMatch DOID:6998 gallbladder mucinous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004069 inborn mitochondrial metabolism disorder skos:exactMatch DOID:700 mitochondrial metabolism disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004071 childhood cerebral astrocytoma skos:exactMatch DOID:7007 childhood cerebral astrocytoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004075 infiltrating lipoma skos:exactMatch DOID:7014 infiltrating lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004076 tendon sheath lipoma skos:exactMatch DOID:7016 tendon sheath lipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004080 glottis squamous cell carcinoma skos:exactMatch DOID:7031 glottis squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma skos:exactMatch DOID:7032 bile duct clear cell adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004082 childhood immature teratoma of ovary skos:exactMatch DOID:7037 childhood immature teratoma of ovary semapv:ManualMappingCuration 2024-04-21 MONDO:0004085 choroid epithelioid cell melanoma skos:exactMatch DOID:7041 choroid epithelioid cell melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004086 ciliary body epithelioid cell melanoma skos:exactMatch DOID:7042 ciliary body epithelioid cell melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004087 basaloid large cell lung carcinoma skos:exactMatch DOID:7045 basaloid lung carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004088 cervical basaloid carcinoma skos:exactMatch DOID:7046 cervical basaloid squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004089 basaloid carcinoma of the penis skos:exactMatch DOID:7047 penis basaloid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004090 vulvar basaloid squamous cell carcinoma skos:exactMatch DOID:7048 vulvar basaloid squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004091 skin basaloid carcinoma skos:exactMatch DOID:7049 basaloid squamous cell skin carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004092 thymic basaloid carcinoma skos:exactMatch DOID:7050 thymus basaloid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004093 esophageal basaloid carcinoma skos:exactMatch DOID:7051 esophageal basaloid squamous cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004095 B-cell neoplasm skos:exactMatch DOID:707 B-cell lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004099 adult cystic teratoma skos:exactMatch DOID:7079 adult cystic teratoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004104 splenic manifestation of hairy cell leukemia skos:exactMatch DOID:709 splenic manifestation of hairy cell leukemia semapv:ManualMappingCuration 2024-04-21 MONDO:0004105 childhood epithelioid sarcoma skos:exactMatch DOID:7095 childhood epithelioid sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004107 splenic manifestation of leukemia skos:exactMatch DOID:710 splenic manifestation of leukemia semapv:ManualMappingCuration 2024-04-21 MONDO:0004110 refractory hairy cell leukemia skos:exactMatch DOID:711 refractory hairy cell leukemia semapv:ManualMappingCuration 2024-04-21 MONDO:0004111 refractory hematologic cancer skos:exactMatch DOID:712 refractory hematologic cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0004116 esophageal small cell neuroendocrine carcinoma skos:exactMatch DOID:7134 esophagus small cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004117 ampulla of vater small cell neuroendocrine carcinoma skos:exactMatch DOID:7136 ampulla of Vater small cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004120 Bartholin gland small cell carcinoma skos:exactMatch DOID:7140 Bartholin's gland small cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004125 rectum leiomyoma skos:exactMatch DOID:7160 rectal leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004126 thyroiditis skos:exactMatch DOID:7166 thyroiditis semapv:ManualMappingCuration 2023-03-17 MONDO:0004130 anus basaloid carcinoma skos:exactMatch DOID:7174 anus basaloid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004131 anal verrucous carcinoma skos:exactMatch DOID:7175 anal Buschke-Lowenstein tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0004132 anal canal squamous cell carcinoma skos:exactMatch DOID:7177 anal canal squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004139 normocytic anemia skos:exactMatch DOID:720 normocytic anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma skos:exactMatch DOID:7221 gallbladder papillary carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004151 spinal meninges cancer skos:exactMatch DOID:7224 spinal meninges cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0004153 childhood central nervous system embryonal carcinoma skos:exactMatch DOID:7231 childhood CNS embryonal cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004155 adult central nervous system embryonal carcinoma skos:exactMatch DOID:7233 adult central nervous system embryonal carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch DOID:7234 mucinous cystadenocarcinoma of pancreas semapv:ManualMappingCuration 2024-04-21 MONDO:0004163 bladder urachal urothelial carcinoma skos:exactMatch DOID:7244 bladder urachal urothelial carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004166 hereditary fallopian tube carcinoma skos:exactMatch DOID:7266 familiar fallopian tube carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004168 cribriform variant testicular seminoma skos:exactMatch DOID:7269 cribriform variant testicular seminoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004169 premenstrual tension skos:exactMatch DOID:727 premenstrual tension semapv:ManualMappingCuration 2023-03-17 MONDO:0004176 childhood extraosseous osteosarcoma skos:exactMatch DOID:7297 childhood extraosseous osteosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004177 benign urethral neoplasm skos:exactMatch DOID:730 urethral benign neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0004180 benign urinary system neoplasm skos:exactMatch DOID:731 urinary system benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0004183 axonal neuropathy skos:exactMatch DOID:7319 axonal neuropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0004185 ovarian serous cystadenofibroma skos:exactMatch DOID:7320 ovarian serous cystadenofibroma semapv:ManualMappingCuration 2024-04-21 MONDO:0004187 nodular fasciitis skos:exactMatch DOID:7327 pseudosarcomatous fibromatosis semapv:ManualMappingCuration 2023-03-17 MONDO:0004188 iris spindle cell melanoma skos:exactMatch DOID:7328 iris spindle cell melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004189 esophageal tuberculosis skos:exactMatch DOID:7332 esophageal tuberculosis semapv:ManualMappingCuration 2024-04-21 MONDO:0004192 urethra cancer skos:exactMatch DOID:734 urethra cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0004193 pediatric ovarian dysgerminoma skos:exactMatch DOID:7340 childhood ovarian dysgerminoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004196 rectal sarcomatoid carcinoma skos:exactMatch DOID:7356 rectum sarcomatoid carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004197 male urethral cancer skos:exactMatch DOID:736 male urethral cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0004199 vulvar keratinizing squamous cell carcinoma skos:exactMatch DOID:7363 vulvar keratinizing squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004202 adrenal medulla carcinoma skos:exactMatch DOID:7379 adrenal medulla carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004204 squamous cell skin papilloma skos:exactMatch DOID:7380 squamous cell papilloma of skin semapv:ManualMappingCuration 2024-04-21 MONDO:0004207 pulmonary artery leiomyosarcoma skos:exactMatch DOID:7389 pulmonary artery leiomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004215 cutaneous anthrax skos:exactMatch DOID:7426 cutaneous anthrax semapv:ManualMappingCuration 2024-04-21 MONDO:0004216 pineal region germinoma skos:exactMatch DOID:7428 pineal region germinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004217 childhood brain germinoma skos:exactMatch DOID:7429 childhood brain germinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004221 uterine corpus perivascular epithelioid cell tumor skos:exactMatch DOID:7437 uterus perivascular epithelioid cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0004222 ovarian clear cell cystadenocarcinoma skos:exactMatch DOID:7438 ovarian clear cell cystadenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004223 polyp of middle ear skos:exactMatch DOID:7439 polyp of middle ear semapv:ManualMappingCuration 2024-04-21 MONDO:0004231 spindle cell variant squamous cell breast carcinoma skos:exactMatch DOID:7460 spindle cell variant squamous cell breast carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004233 childhood pleomorphic rhabdomyosarcoma skos:exactMatch DOID:7463 childhood pleomorphic rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004235 diverticulitis skos:exactMatch DOID:7475 diverticulitis semapv:ManualMappingCuration 2024-02-18 MONDO:0004239 cervical keratinizing squamous cell carcinoma skos:exactMatch DOID:7483 cervical keratinizing squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004245 ependymal tumor of brain skos:exactMatch DOID:7497 brain ependymoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004247 peptic ulcer disease skos:exactMatch DOID:750 peptic ulcer disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004250 extrahepatic bile duct papillary adenoma skos:exactMatch DOID:7503 extrahepatic bile duct papillary adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004251 small intestine neoplasm skos:exactMatch DOID:7505 small intestine benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0004255 Wolffian adnexal tumor skos:exactMatch DOID:7514 Wolffian adnexal neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0004257 childhood central nervous system mixed germ cell tumor skos:exactMatch DOID:7516 childhood central nervous system mixed germ cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0004259 endocervical carcinoma skos:exactMatch DOID:7519 endocervical carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004263 pediatric infratentorial ependymoblastoma skos:exactMatch DOID:7522 childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered semapv:ManualMappingCuration 2023-03-17 MONDO:0004265 acute endometritis skos:exactMatch DOID:7528 acute endometritis semapv:ManualMappingCuration 2024-04-21 MONDO:0004270 breast ductal adenoma skos:exactMatch DOID:7538 breast ductal adenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004272 urinary bladder tuberculosis skos:exactMatch DOID:754 bladder tuberculosis semapv:ManualMappingCuration 2024-04-21 MONDO:0004281 vulvar eccrine porocarcinoma skos:exactMatch DOID:7565 vulvar eccrine porocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004289 glottis verrucous carcinoma skos:exactMatch DOID:7583 glottis verrucous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004292 supraglottis verrucous carcinoma skos:exactMatch DOID:7586 supraglottis verrucous carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004293 supraglottis squamous cell carcinoma skos:exactMatch DOID:7587 supraglottis squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004294 gestational ovarian choriocarcinoma skos:exactMatch DOID:7591 gestational ovarian choriocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004295 asbestos-related lung carcinoma skos:exactMatch DOID:7596 asbestos-related lung carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004301 fibrosarcomatous osteosarcoma skos:exactMatch DOID:7603 fibrosarcomatous osteosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004305 parathyroid oncocytic adenoma skos:exactMatch DOID:7611 parathyroid oncocytic adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004308 meningeal sarcoma skos:exactMatch DOID:7614 meninges sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered skos:exactMatch DOID:7631 adult embryonal tumor with multilayered rosettes, C19MC-altered semapv:ManualMappingCuration 2024-04-21 MONDO:0004312 suprasellar meningioma skos:exactMatch DOID:7634 suprasellar meningioma semapv:ManualMappingCuration 2024-04-21 MONDO:0004314 malignant cutaneous granular cell skin tumor skos:exactMatch DOID:7639 malignant granular cell skin tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0004320 adult infiltrating astrocytic neoplasm skos:exactMatch DOID:7656 adult infiltrating astrocytic neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0004321 endometrial mixed adenocarcinoma skos:exactMatch DOID:7664 endometrial mixed adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004322 non-gestational ovarian choriocarcinoma skos:exactMatch DOID:7665 non-gestational ovarian choriocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004323 muscular atrophy skos:exactMatch DOID:767 muscular atrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0004324 testicular fibroma skos:exactMatch DOID:7675 testicular fibroma semapv:ManualMappingCuration 2024-04-21 MONDO:0004328 maxillary sinus adenocarcinoma skos:exactMatch DOID:7684 maxillary sinus adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004330 leptomeningeal sarcoma skos:exactMatch DOID:7689 leptomeninges sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004331 bladder urachal adenocarcinoma skos:exactMatch DOID:7694 bladder urachal adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor skos:exactMatch DOID:7697 pancreatic ACTH hormone producing tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:exactMatch DOID:7698 non-functioning pancreatic endocrine tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0004336 rectal signet ring cell adenocarcinoma skos:exactMatch DOID:7707 rectum signet ring adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004338 retinal cell cancer skos:exactMatch DOID:771 retinal cell cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0004343 pancreatic acinar cell cystadenocarcinoma skos:exactMatch DOID:7729 acinar cell cystadenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma skos:exactMatch DOID:7733 signet ring cell intrahepatic cholangiocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004348 retinal telangiectasia skos:exactMatch DOID:7736 retinal telangiectasia semapv:ManualMappingCuration 2023-03-17 MONDO:0004349 retina lymphoma skos:exactMatch DOID:774 retina lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004355 childhood leukemia skos:exactMatch DOID:7757 childhood leukemia semapv:ManualMappingCuration 2023-03-17 MONDO:0004357 carcinoma of supraglottis skos:exactMatch DOID:7763 carcinoma of supraglottis semapv:ManualMappingCuration 2023-03-17 MONDO:0004359 delusional disorder skos:exactMatch DOID:778 delusional disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0004360 breast extraskeletal osteosarcoma skos:exactMatch DOID:7787 breast osteosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004361 adult spinal cord ependymoma skos:exactMatch DOID:7788 adult spinal cord ependymoma semapv:ManualMappingCuration 2023-11-19 MONDO:0004363 adult spinal cord glioblastoma skos:exactMatch DOID:7806 adult spinal cord glioblastoma multiforme semapv:ManualMappingCuration 2024-04-21 MONDO:0004374 adult extraskeletal osteosarcoma skos:exactMatch DOID:7827 adult extraosseous osteosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004378 pediatric cerebral ependymoblastoma skos:exactMatch DOID:7841 childhood embryonal tumor with multilayered rosettes, C19MC-altered semapv:ManualMappingCuration 2024-04-21 MONDO:0004379 female breast carcinoma skos:exactMatch DOID:0050671 female breast cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0004379 female breast carcinoma skos:exactMatch DOID:7843 female breast carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004380 dendritic cell sarcoma skos:exactMatch DOID:7849 dendritic cell sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004383 adult central nervous system germinoma skos:exactMatch DOID:7867 adult central nervous system germinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004384 maxillary sinus inverted papilloma skos:exactMatch DOID:7868 maxillary sinus inverted papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0004386 uterine corpus atypical polypoid adenomyoma skos:exactMatch DOID:7878 uterine corpus atypical polypoid adenomyoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004389 mite infestation skos:exactMatch DOID:7894 mite infestation semapv:ManualMappingCuration 2023-03-17 MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma skos:exactMatch DOID:7903 intracranial chondrosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004394 maxillary sinus squamous cell carcinoma skos:exactMatch DOID:7910 maxillary sinus squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004398 mediastinal schwannoma skos:exactMatch DOID:6175 mediastinal neurilemmoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004398 mediastinal schwannoma skos:exactMatch DOID:7922 benign mediastinal neurilemmoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004401 testis refractory cancer skos:exactMatch DOID:7928 testis refractory cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0004404 refractory precursor T-lymphoblastic lymphoma/leukemia skos:exactMatch DOID:7936 refractory T lymphoblastic leukemia/lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004406 adult central nervous system mixed germ cell tumor skos:exactMatch DOID:7945 adult central nervous system mixed germ cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0004410 sarcomatoid penile squamous cell carcinoma skos:exactMatch DOID:7958 sarcomatoid penile squamous cell carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor skos:exactMatch DOID:7959 duodenal gastrinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004423 central nervous system extraskeletal osteosarcoma skos:exactMatch DOID:7994 central nervous system osteosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004427 supraglottis neoplasm skos:exactMatch DOID:8002 supraglottis neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0004429 skin meningioma skos:exactMatch DOID:8006 skin meningioma semapv:ManualMappingCuration 2024-04-21 MONDO:0004433 papillary carcinoma of the penis skos:exactMatch DOID:8013 penis papillary carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004435 liver fibrosarcoma skos:exactMatch DOID:8022 liver fibrosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004436 ovarian myxoid liposarcoma skos:exactMatch DOID:8023 myxoid liposarcoma of the ovary semapv:ManualMappingCuration 2024-04-21 MONDO:0004440 pineal region meningioma skos:exactMatch DOID:8031 pineal region meningioma semapv:ManualMappingCuration 2024-04-21 MONDO:0004441 childhood ovarian embryonal carcinoma skos:exactMatch DOID:8036 childhood ovarian embryonal carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004450 carotid artery occlusion skos:exactMatch DOID:807 carotid artery occlusion semapv:ManualMappingCuration 2023-11-19 MONDO:0004452 childhood central nervous system germinoma skos:exactMatch DOID:8078 childhood central nervous system germinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004456 cocaine abuse skos:exactMatch DOID:809 cocaine abuse semapv:ManualMappingCuration 2024-04-21 MONDO:0004457 maxillary sinus Schneiderian papilloma skos:exactMatch DOID:8093 maxillary sinus Schneiderian papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0004458 bladder mixed adenocarcinoma skos:exactMatch DOID:8096 bladder mixed adenocarcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004459 bladder hepatoid adenocarcinoma skos:exactMatch DOID:8097 bladder hepatoid adenocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004461 vaginal tubulovillous adenoma skos:exactMatch DOID:8104 vaginal tubulovillous adenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004462 extrahepatic bile duct cystadenoma skos:exactMatch DOID:8105 extrahepatic bile duct cystadenoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004468 anal canal Paget disease skos:exactMatch DOID:8119 anal canal Paget's disease semapv:ManualMappingCuration 2024-04-21 MONDO:0004474 gallbladder lymphoma skos:exactMatch DOID:8135 gallbladder lymphoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004477 adrenal gland ganglioneuroblastoma skos:exactMatch DOID:8140 adrenal gland ganglioneuroblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004479 malignant childhood germ cell neoplasm skos:exactMatch DOID:8149 malignant childhood germ cell neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0004483 thyroid gland oncocytic adenoma skos:exactMatch DOID:8162 thyroid Hurthle cell adenoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004484 gallbladder melanoma skos:exactMatch DOID:8167 gallbladder melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004489 fallopian tube gestational choriocarcinoma skos:exactMatch DOID:8186 fallopian tube gestational choriocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004491 uterine corpus choriocarcinoma skos:exactMatch DOID:8187 gestational uterine corpus choriocarcinoma semapv:ManualMappingCuration 2024-05-19 MONDO:0004491 uterine corpus choriocarcinoma skos:exactMatch DOID:8188 uterine corpus choriocarcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004492 mediastinitis skos:exactMatch DOID:819 mediastinitis semapv:ManualMappingCuration 2024-04-21 MONDO:0004497 tertiary syphilis skos:exactMatch DOID:8200 tertiary syphilis semapv:ManualMappingCuration 2023-03-17 MONDO:0004501 fallopian tube cystadenofibroma skos:exactMatch DOID:8211 fallopian tube cystadenofibroma semapv:ManualMappingCuration 2024-04-21 MONDO:0004504 penile urethral cancer skos:exactMatch DOID:8223 penile urethral cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0004513 adult pleomorphic rhabdomyosarcoma skos:exactMatch DOID:8251 adult pleomorphic rhabdomyosarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004514 chronic rhinitis skos:exactMatch DOID:8252 chronic rhinitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004517 ureter tuberculosis skos:exactMatch DOID:827 ureter tuberculosis semapv:ManualMappingCuration 2024-04-21 MONDO:0004519 synovial angioma skos:exactMatch DOID:8274 synovial angioma semapv:ManualMappingCuration 2024-04-21 MONDO:0004521 adult epithelioid sarcoma skos:exactMatch DOID:8282 adult epithelioid sarcoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch DOID:8302 mixed endometrial stromal and smooth muscle tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0004528 lymph node palisaded myofibroblastoma skos:exactMatch DOID:8304 lymph node palisaded myofibroblastoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004532 auditory system cancer skos:exactMatch DOID:833 auditory system cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0004534 microglandular adenosis of breast skos:exactMatch DOID:8335 microglandular adenosis of breast semapv:ManualMappingCuration 2024-04-21 MONDO:0004535 childhood choriocarcinoma of the ovary skos:exactMatch DOID:8336 childhood choriocarcinoma of the ovary semapv:ManualMappingCuration 2024-04-21 MONDO:0004539 aortic malignant tumor skos:exactMatch DOID:8352 aortic malignant tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0004545 adult malignant schwannoma skos:exactMatch DOID:8369 adult malignant schwannoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004548 adult type testicular granulosa cell tumor skos:exactMatch DOID:8394 adult type testicular granulosa cell tumor semapv:ManualMappingCuration 2024-04-21 MONDO:0004550 malignant cornea melanoma skos:exactMatch DOID:8400 malignant cornea melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004554 childhood kidney angiomyolipoma skos:exactMatch DOID:8410 childhood kidney angiomyolipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004555 kidney angiomyolipoma skos:exactMatch DOID:8411 kidney angiomyolipoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004557 congenital fibrosarcoma skos:exactMatch DOID:8418 congenital fibrosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004561 retinal melanoma skos:exactMatch DOID:8427 retinal melanoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004565 intestinal obstruction skos:exactMatch DOID:8437 intestinal obstruction semapv:ManualMappingCuration 2023-03-17 MONDO:0004566 postgastrectomy syndrome skos:exactMatch DOID:8439 postgastrectomy syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0004567 ileus skos:exactMatch DOID:8440 ileus semapv:ManualMappingCuration 2023-03-17 MONDO:0004569 brachial plexus neuropathy from injury skos:exactMatch DOID:8443 brachial plexus lesion semapv:ManualMappingCuration 2023-03-17 MONDO:0004571 intestinal impaction skos:exactMatch DOID:8448 intestinal impaction semapv:ManualMappingCuration 2023-03-17 MONDO:0004573 ariboflavinosis skos:exactMatch DOID:8454 riboflavin deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0004577 corneal ulcer skos:exactMatch DOID:8463 corneal ulcer semapv:ManualMappingCuration 2024-04-21 MONDO:0004579 retinoschisis skos:exactMatch DOID:8465 retinoschisis semapv:ManualMappingCuration 2023-03-17 MONDO:0004580 retinal degeneration skos:exactMatch DOID:8466 retinal degeneration semapv:ManualMappingCuration 2023-03-17 MONDO:0004582 rheumatic myocarditis skos:exactMatch DOID:8481 rheumatic myocarditis semapv:ManualMappingCuration 2023-03-17 MONDO:0004583 transient retinal arterial occlusion skos:exactMatch DOID:8482 transient retinal arterial occlusion semapv:ManualMappingCuration 2024-04-21 MONDO:0004586 rheumatoid lung disease skos:exactMatch DOID:849 rheumatoid arthritis interstitial lung disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004588 night blindness skos:exactMatch DOID:8499 night blindness semapv:ManualMappingCuration 2023-03-17 MONDO:0004593 Bartholin duct cyst skos:exactMatch DOID:851 Bartholin's duct cyst semapv:ManualMappingCuration 2023-03-17 MONDO:0004596 cor pulmonale skos:exactMatch DOID:8515 Cor pulmonale semapv:ManualMappingCuration 2023-03-17 MONDO:0004598 acute cor pulmonale skos:exactMatch DOID:8514 acute pulmonary heart disease semapv:ManualMappingCuration 2024-04-21 MONDO:0004598 acute cor pulmonale skos:exactMatch DOID:8517 acute cor pulmonale semapv:ManualMappingCuration 2024-04-21 MONDO:0004600 monocytic leukemia skos:exactMatch DOID:8527 monocytic leukemia semapv:ManualMappingCuration 2023-03-17 MONDO:0004614 chronic monocytic leukemia skos:exactMatch DOID:8593 chronic monocytic leukemia semapv:ManualMappingCuration 2024-04-21 MONDO:0004616 herpetic whitlow skos:exactMatch DOID:8607 herpetic whitlow semapv:ManualMappingCuration 2024-04-21 MONDO:0004617 recurrent hypersomnia skos:exactMatch DOID:8619 recurrent hypersomnia semapv:ManualMappingCuration 2023-03-17 MONDO:0004618 diplegia of upper limb skos:exactMatch DOID:862 diplegia of upper limb semapv:ManualMappingCuration 2023-03-17 MONDO:0004622 chronic intestinal vascular insufficiency skos:exactMatch DOID:8633 chronic intestinal vascular insufficiency semapv:ManualMappingCuration 2024-04-21 MONDO:0004627 duodenitis skos:exactMatch DOID:8643 duodenitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004628 gastroduodenitis skos:exactMatch DOID:8644 gastroduodenitis semapv:ManualMappingCuration 2024-04-21 MONDO:0004630 substance-induced psychosis skos:exactMatch DOID:8646 substance-induced psychosis semapv:ManualMappingCuration 2023-03-17 MONDO:0004631 tongue cancer skos:exactMatch DOID:8649 tongue cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0004634 vein disorder skos:exactMatch DOID:866 vein disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004636 lip carcinoma in situ skos:exactMatch DOID:8661 lip carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0004640 alcoholic gastritis skos:exactMatch DOID:8680 alcoholic gastritis semapv:ManualMappingCuration 2023-03-17 MONDO:0004641 skin carcinoma in situ skos:exactMatch DOID:8687 skin carcinoma in situ semapv:ManualMappingCuration 2023-03-17 MONDO:0004643 myeloid leukemia skos:exactMatch DOID:8692 myeloid leukemia semapv:ManualMappingCuration 2023-03-17 MONDO:0004647 in situ carcinoma skos:exactMatch DOID:8719 in situ carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004649 anaerobic pneumonia skos:exactMatch DOID:873 anaerobic pneumonia semapv:ManualMappingCuration 2023-03-17 MONDO:0004650 malignant carotid body paraganglioma skos:exactMatch DOID:8731 carotid body cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0004651 smallpox skos:exactMatch DOID:8736 smallpox semapv:ManualMappingCuration 2023-03-17 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative semapv:ManualMappingCuration 2023-11-19 MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:exactMatch DOID:8747 subacute myeloid leukemia semapv:ManualMappingCuration 2023-11-19 MONDO:0004657 disseminated chorioretinitis skos:exactMatch DOID:8787 disseminated chorioretinitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004658 breast carcinoma in situ skos:exactMatch DOID:8791 breast carcinoma in situ semapv:ManualMappingCuration 2023-03-17 MONDO:0004659 eye carcinoma in situ skos:exactMatch DOID:8792 eye carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0004660 lung carcinoma in situ skos:exactMatch DOID:8800 lung carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0004661 trachea carcinoma in situ skos:exactMatch DOID:8802 trachea carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0004663 colon carcinoma in situ skos:exactMatch DOID:8826 colon carcinoma in situ semapv:ManualMappingCuration 2023-03-17 MONDO:0004667 sublingual gland cancer skos:exactMatch DOID:8849 sublingual gland cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0004669 salivary gland cancer skos:exactMatch DOID:8850 salivary gland cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0004670 lupus erythematosus skos:exactMatch DOID:8857 lupus erythematosus semapv:ManualMappingCuration 2023-03-17 MONDO:0004671 penis carcinoma in situ skos:exactMatch DOID:8872 penis carcinoma in situ semapv:ManualMappingCuration 2023-03-17 MONDO:0004674 chorioretinitis skos:exactMatch DOID:8886 chorioretinitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004675 mitochondrial encephalomyopathy skos:exactMatch DOID:890 mitochondrial encephalomyopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0004678 dermatophytosis skos:exactMatch DOID:8913 dermatophytosis semapv:ManualMappingCuration 2023-03-17 MONDO:0004679 leukoplakia of vagina skos:exactMatch DOID:8920 leukoplakia of vagina semapv:ManualMappingCuration 2024-04-21 MONDO:0004680 primary thrombocytopenia skos:exactMatch DOID:8925 primary thrombocytopenia semapv:ManualMappingCuration 2023-03-17 MONDO:0004681 learning disability skos:exactMatch DOID:8927 learning disability semapv:ManualMappingCuration 2023-03-17 MONDO:0004685 Waldeyer's ring cancer skos:exactMatch DOID:8937 Waldeyer's ring cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0004686 lattice corneal dystrophy skos:exactMatch DOID:8943 lattice corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0004689 inborn metal metabolism disorder skos:exactMatch DOID:896 metal metabolism disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0004695 liver lymphoma skos:exactMatch DOID:901 liver lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004696 larynx carcinoma in situ skos:exactMatch DOID:9011 larynx carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0004697 esophageal leukoplakia skos:exactMatch DOID:9021 esophageal leukoplakia semapv:ManualMappingCuration 2023-03-17 MONDO:0004698 intestine carcinoma in situ skos:exactMatch DOID:9024 intestine carcinoma in situ semapv:ManualMappingCuration 2023-03-17 MONDO:0004699 gastrointestinal lymphoma skos:exactMatch DOID:903 gastrointestinal lymphoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004700 parotid gland cancer skos:exactMatch DOID:9036 parotid gland cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0004702 uterine cervix leukoplakia skos:exactMatch DOID:9043 uterine cervix leukoplakia semapv:ManualMappingCuration 2024-04-21 MONDO:0004703 bladder carcinoma in situ skos:exactMatch DOID:9053 bladder carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0004705 liver solitary fibrous tumor skos:exactMatch DOID:907 liver fibroma semapv:ManualMappingCuration 2023-03-17 MONDO:0004707 anal canal carcinoma in situ skos:exactMatch DOID:9087 anal carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0004708 esophagus carcinoma in situ skos:exactMatch DOID:9095 esophagus carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0004710 uterus carcinoma in situ skos:exactMatch DOID:9108 uterus carcinoma in situ semapv:ManualMappingCuration 2023-03-17 MONDO:0004712 herpes simplex dermatitis skos:exactMatch DOID:9123 eczema herpeticum semapv:ManualMappingCuration 2024-04-21 MONDO:0004715 liver carcinoma in situ skos:exactMatch DOID:9132 liver carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0004716 stomach carcinoma in situ skos:exactMatch DOID:9138 stomach carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0004723 liver leiomyoma skos:exactMatch DOID:917 liver leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004724 submandibular gland cancer skos:exactMatch DOID:9173 submandibular gland cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0004725 rectum carcinoma in situ skos:exactMatch DOID:9174 rectum carcinoma in situ semapv:ManualMappingCuration 2023-03-17 MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch DOID:918 liver inflammatory pseudotumor semapv:ManualMappingCuration 2024-04-21 MONDO:0004727 vestibule of mouth cancer skos:exactMatch DOID:9188 vestibule of mouth cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0004730 speech disorder skos:exactMatch DOID:92 speech disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0004731 central sleep apnea syndrome skos:exactMatch DOID:9220 central sleep apnea semapv:ManualMappingCuration 2023-03-17 MONDO:0004732 kidney carcinoma in situ skos:exactMatch DOID:9234 kidney carcinoma in situ semapv:ManualMappingCuration 2024-04-21 MONDO:0004736 inborn disorder of amino acid metabolism skos:exactMatch DOID:9252 amino acid metabolic disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0004737 homocystinuria skos:exactMatch DOID:9263 homocystinuria semapv:ManualMappingCuration 2023-03-17 MONDO:0004739 urea cycle disorder skos:exactMatch DOID:9267 urea cycle disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0004741 tyrosinemia skos:exactMatch DOID:9275 tyrosinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0004743 hyperhomocysteinemia skos:exactMatch DOID:9279 hyperhomocysteinemia semapv:ManualMappingCuration 2023-11-19 MONDO:0004746 myopathy of extraocular muscle skos:exactMatch DOID:929 myopathy of extraocular muscle semapv:ManualMappingCuration 2023-03-17 MONDO:0004748 lip disorder skos:exactMatch DOID:9297 lip disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004749 myocardium cancer skos:exactMatch DOID:9299 myocardium cancer semapv:ManualMappingCuration 2024-04-21 MONDO:0004750 language disorder skos:exactMatch DOID:93 language disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0004751 disease of orbital part of eye adnexa skos:exactMatch DOID:930 orbital disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004756 nasal cavity neoplasm skos:exactMatch DOID:9310 nasal cavity benign neoplasm semapv:ManualMappingCuration 2023-03-17 MONDO:0004757 chronic ethmoidal sinusitis skos:exactMatch DOID:9312 chronic ethmoiditis semapv:ManualMappingCuration 2024-04-21 MONDO:0004763 carotid artery dissection skos:exactMatch DOID:9348 carotid artery dissection semapv:ManualMappingCuration 2023-11-19 MONDO:0004768 keratoconjunctivitis skos:exactMatch DOID:9368 keratoconjunctivitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004773 iridocyclitis skos:exactMatch DOID:9383 iridocyclitis semapv:ManualMappingCuration 2024-04-21 MONDO:0004774 gonococcal iridocyclitis skos:exactMatch DOID:9384 gonococcal iridocyclitis semapv:ManualMappingCuration 2024-04-21 MONDO:0004777 acute laryngitis skos:exactMatch DOID:9396 acute laryngitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004782 diabetes insipidus skos:exactMatch DOID:9409 diabetes insipidus semapv:ManualMappingCuration 2023-03-17 MONDO:0004784 allergic asthma skos:exactMatch DOID:9415 allergic asthma semapv:ManualMappingCuration 2023-03-17 MONDO:0004786 chronic cholangitis skos:exactMatch DOID:9439 chronic cholangitis semapv:ManualMappingCuration 2024-04-21 MONDO:0004788 cervix squamous papilloma skos:exactMatch DOID:9445 cervix squamous papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0004789 cholangitis skos:exactMatch DOID:9446 cholangitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004790 fatty liver disease skos:exactMatch DOID:9452 steatotic liver disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004800 chronic dacryoadenitis skos:exactMatch DOID:949 chronic dacryoadenitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004804 dacryoadenitis skos:exactMatch DOID:950 dacryoadenitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004805 leukocyte disorder skos:exactMatch DOID:9500 leukocyte disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch DOID:9502 chronic eosinophilic pneumonia semapv:ManualMappingCuration 2024-04-21 MONDO:0004810 acute ethmoiditis skos:exactMatch DOID:9506 acute ethmoiditis semapv:ManualMappingCuration 2024-04-21 MONDO:0004812 acute dacryoadenitis skos:exactMatch DOID:952 acute dacryoadenitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004816 refractory plasma cell neoplasm skos:exactMatch DOID:9544 refractory plasma cell neoplasm semapv:ManualMappingCuration 2024-04-21 MONDO:0004820 peripheral nerve schwannoma skos:exactMatch DOID:956 peripheral nerve schwannoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004821 nasopharyngeal disorder skos:exactMatch DOID:9561 nasopharyngeal disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004822 bronchiectasis skos:exactMatch DOID:9563 bronchiectasis semapv:ManualMappingCuration 2023-03-17 MONDO:0004826 urethral calculus skos:exactMatch DOID:9589 urethral calculus semapv:ManualMappingCuration 2024-04-21 MONDO:0004827 esophagus squamous cell papilloma skos:exactMatch DOID:959 esophagus squamous cell papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0004828 lower urinary tract calculus skos:exactMatch DOID:9590 lower urinary tract calculus semapv:ManualMappingCuration 2023-03-17 MONDO:0004830 fasciitis skos:exactMatch DOID:9598 fasciitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004832 esophagus leiomyoma skos:exactMatch DOID:960 esophagus leiomyoma semapv:ManualMappingCuration 2024-04-21 MONDO:0004843 pathologic nystagmus skos:exactMatch DOID:9650 pathologic nystagmus semapv:ManualMappingCuration 2023-03-17 MONDO:0004844 oral mucosa leukoplakia skos:exactMatch DOID:9655 oral mucosa leukoplakia semapv:ManualMappingCuration 2024-04-21 MONDO:0004847 senile cataract skos:exactMatch DOID:9669 senile cataract semapv:ManualMappingCuration 2023-03-17 MONDO:0004848 ulcerative stomatitis skos:exactMatch DOID:9673 ulcerative stomatitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004852 gonococcal keratitis skos:exactMatch DOID:9697 gonococcal keratitis semapv:ManualMappingCuration 2024-04-21 MONDO:0004853 gonococcal endophthalmia skos:exactMatch DOID:9698 gonococcal endophthalmia semapv:ManualMappingCuration 2024-04-21 MONDO:0004857 tendinitis skos:exactMatch DOID:971 tendinitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004860 vitreous disorder skos:exactMatch DOID:9720 vitreous disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004863 purulent endophthalmitis skos:exactMatch DOID:9724 purulent endophthalmitis semapv:ManualMappingCuration 2023-03-17 MONDO:0004867 upper respiratory tract disorder skos:exactMatch DOID:974 upper respiratory tract disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004869 pelvic varices skos:exactMatch DOID:9742 pelvic varices semapv:ManualMappingCuration 2023-03-17 MONDO:0004874 ganglion or cyst of synovium/tendon/bursa skos:exactMatch DOID:9754 ganglion or cyst of synovium/tendon/bursa semapv:ManualMappingCuration 2023-03-17 MONDO:0004880 bowel dysfunction skos:exactMatch DOID:9779 bowel dysfunction semapv:ManualMappingCuration 2023-03-17 MONDO:0004882 angioid streaks of choroid skos:exactMatch DOID:979 angioid streaks of choroid semapv:ManualMappingCuration 2024-04-21 MONDO:0004884 eye degenerative disorder skos:exactMatch DOID:9799 eye degenerative disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004885 choroidal sclerosis skos:exactMatch DOID:980 choroidal sclerosis semapv:ManualMappingCuration 2023-03-17 MONDO:0004891 hyperopia skos:exactMatch DOID:9834 hyperopia semapv:ManualMappingCuration 2023-03-17 MONDO:0004892 refractive error skos:exactMatch DOID:9835 refractive error semapv:ManualMappingCuration 2023-03-17 MONDO:0004897 hypotropia skos:exactMatch DOID:9841 hypotropia semapv:ManualMappingCuration 2023-03-17 MONDO:0004900 peripheral vertigo skos:exactMatch DOID:9847 peripheral vertigo semapv:ManualMappingCuration 2023-03-17 MONDO:0004907 alopecia skos:exactMatch DOID:987 alopecia semapv:ManualMappingCuration 2023-03-17 MONDO:0004910 mitral valve prolapse skos:exactMatch DOID:988 mitral valve prolapse semapv:ManualMappingCuration 2023-11-19 MONDO:0004917 internal hordeolum skos:exactMatch DOID:9908 internal hordeolum semapv:ManualMappingCuration 2023-03-17 MONDO:0004923 chronic inflammation of lacrimal passage skos:exactMatch DOID:9935 chronic inflammation of lacrimal passage semapv:ManualMappingCuration 2024-04-21 MONDO:0004924 chronic canaliculitis skos:exactMatch DOID:9936 chronic canaliculitis semapv:ManualMappingCuration 2024-04-21 MONDO:0004928 lymph node disorder skos:exactMatch DOID:9942 lymph node disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004933 hypoplastic left heart syndrome skos:exactMatch DOID:9955 hypoplastic left heart syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0004934 periostitis skos:exactMatch DOID:9957 periostitis semapv:ManualMappingCuration 2024-04-21 MONDO:0004938 substance dependence skos:exactMatch DOID:9973 substance dependence semapv:ManualMappingCuration 2023-03-17 MONDO:0004943 orbit sarcoma skos:exactMatch DOID:9987 orbit sarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004944 neurosyphilis skos:exactMatch DOID:9988 tertiary neurosyphilis semapv:ManualMappingCuration 2023-03-17 MONDO:0004975 Alzheimer disease skos:exactMatch DOID:10652 Alzheimer's disease semapv:ManualMappingCuration 2023-03-17 MONDO:0004976 amyotrophic lateral sclerosis skos:exactMatch DOID:332 amyotrophic lateral sclerosis semapv:ManualMappingCuration 2023-03-17 MONDO:0004979 asthma skos:exactMatch DOID:2841 asthma semapv:ManualMappingCuration 2023-03-17 MONDO:0004985 bipolar disorder skos:exactMatch DOID:3312 bipolar disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0004986 urinary bladder carcinoma skos:exactMatch DOID:4007 bladder carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0004992 cancer skos:exactMatch DOID:0050686 organ system cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0004992 cancer skos:exactMatch DOID:0050687 cell type cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0004992 cancer skos:exactMatch DOID:162 cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0005041 glaucoma skos:exactMatch DOID:1686 glaucoma semapv:ManualMappingCuration 2023-03-17 MONDO:0005053 ischemic disease skos:exactMatch DOID:326 ischemia semapv:ManualMappingCuration 2023-03-17 MONDO:0005090 schizophrenia skos:exactMatch DOID:5419 schizophrenia semapv:ManualMappingCuration 2023-03-17 MONDO:0005094 hemangiopericytoma skos:exactMatch DOID:264 hemangiopericytoma semapv:ManualMappingCuration 2023-03-17 MONDO:0005129 cataract skos:exactMatch DOID:83 cataract semapv:ManualMappingCuration 2023-03-17 MONDO:0005147 type 1 diabetes mellitus skos:exactMatch DOID:9744 type 1 diabetes mellitus semapv:ManualMappingCuration 2023-03-17 MONDO:0005148 type 2 diabetes mellitus skos:exactMatch DOID:9352 type 2 diabetes mellitus semapv:ManualMappingCuration 2023-03-17 MONDO:0005149 pulmonary hypertension skos:exactMatch DOID:6432 pulmonary hypertension semapv:ManualMappingCuration 2023-03-17 MONDO:0005178 osteoarthritis skos:exactMatch DOID:8398 osteoarthritis semapv:ManualMappingCuration 2023-03-17 MONDO:0005180 Parkinson disease skos:exactMatch DOID:14330 Parkinson's disease semapv:ManualMappingCuration 2023-03-17 MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch DOID:3498 pancreatic ductal adenocarcinoma semapv:ManualMappingCuration 2023-12-24 MONDO:0005184 pancreatic ductal adenocarcinoma skos:exactMatch DOID:3587 pancreatic ductal carcinoma semapv:ManualMappingCuration 2023-12-24 MONDO:0005232 large cell carcinoma skos:exactMatch DOID:4552 large cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0005271 allergic disease skos:exactMatch DOID:1205 allergic disease semapv:ManualMappingCuration 2023-03-17 MONDO:0005277 migraine disorder skos:exactMatch DOID:6364 migraine semapv:ManualMappingCuration 2023-03-17 MONDO:0005299 brain ischemia skos:exactMatch DOID:2316 brain ischemia semapv:ManualMappingCuration 2023-03-17 MONDO:0005301 multiple sclerosis skos:exactMatch DOID:2377 multiple sclerosis semapv:ManualMappingCuration 2023-03-17 MONDO:0005321 Fuchs' endothelial dystrophy skos:exactMatch DOID:11555 Fuchs' endothelial dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0005341 skin basal cell carcinoma skos:exactMatch DOID:2513 basal cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0005351 anorexia nervosa skos:exactMatch DOID:8689 anorexia nervosa semapv:ManualMappingCuration 2023-03-17 MONDO:0005374 bone marrow neoplasm skos:exactMatch DOID:4960 bone marrow cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0005405 childhood onset asthma skos:exactMatch DOID:0080815 childhood-onset asthma semapv:ManualMappingCuration 2023-04-17 MONDO:0005411 gallbladder cancer skos:exactMatch DOID:3121 gallbladder cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0005475 migraine with aura skos:exactMatch DOID:10024 migraine with aura semapv:ManualMappingCuration 2023-03-17 MONDO:0005499 brain glioma skos:exactMatch DOID:0060108 brain glioma semapv:ManualMappingCuration 2023-03-17 MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch DOID:206 hereditary multiple exostoses semapv:ManualMappingCuration 2023-03-17 MONDO:0005514 nanophthalmia skos:exactMatch DOID:0080634 nanophthalmos semapv:ManualMappingCuration 2023-03-17 MONDO:0005575 colorectal cancer skos:exactMatch DOID:5672 large intestine cancer semapv:ManualMappingCuration 2023-08-20 MONDO:0005575 colorectal cancer skos:exactMatch DOID:9256 colorectal cancer semapv:ManualMappingCuration 2023-08-20 MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome skos:exactMatch DOID:11266 Hantavirus hemorrhagic fever with renal syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0005835 Lynch syndrome skos:exactMatch DOID:3883 Lynch syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0006037 hydrolethalus syndrome skos:exactMatch DOID:0050779 hydrolethalus syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0006507 hereditary hemochromatosis skos:exactMatch DOID:2352 hemochromatosis semapv:ManualMappingCuration 2023-03-17 MONDO:0006596 photoallergic dermatitis skos:exactMatch DOID:3818 photoallergic dermatitis semapv:ManualMappingCuration 2023-03-17 MONDO:0006715 coronary stenosis skos:exactMatch DOID:4248 coronary stenosis semapv:ManualMappingCuration 2023-03-17 MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch DOID:14702 branchiootorenal syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007032 prune belly syndrome skos:exactMatch DOID:0060889 prune belly syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007033 abducens nerve palsy skos:exactMatch DOID:10865 abducens nerve palsy semapv:ManualMappingCuration 2024-04-21 MONDO:0007034 Adams-Oliver syndrome skos:exactMatch DOID:0060227 Adams-Oliver syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007037 Achondroplasia skos:exactMatch DOID:4480 achondroplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0007039 neurofibromatosis type 2 skos:exactMatch DOID:0111252 vestibular schwannomatosis semapv:ManualMappingCuration 2023-03-17 MONDO:0007040 Sakati-Nyhan syndrome skos:exactMatch DOID:0060359 Sakati-Nyhan syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007042 Saethre-Chotzen syndrome skos:exactMatch DOID:14768 Saethre-Chotzen syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007043 Pfeiffer syndrome skos:exactMatch DOID:14705 Pfeiffer syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007045 acrofacial dysostosis, Catania type skos:exactMatch DOID:0060384 acrofacial dysostosis, Catania type semapv:ManualMappingCuration 2023-03-17 MONDO:0007055 Acromicric dysplasia skos:exactMatch DOID:0111243 acromicric dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0007057 Acroosteolysis dominant type skos:exactMatch DOID:2736 Hajdu-Cheney syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007059 acrorenal syndrome skos:exactMatch DOID:0060347 acrorenal syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:exactMatch DOID:5810 adenosine deaminase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0007068 adenylosuccinate lyase deficiency skos:exactMatch DOID:0050762 adenylosuccinase lyase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0007072 ADULT syndrome skos:exactMatch DOID:0050601 ADULT syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007077 Tietz syndrome skos:exactMatch DOID:0090002 Tietz syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch DOID:0080053 Albright's hereditary osteodystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0007079 alcohol dependence skos:exactMatch DOID:0050741 alcohol dependence semapv:ManualMappingCuration 2023-03-17 MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch DOID:14080 glucocorticoid-remediable aldosteronism semapv:ManualMappingCuration 2023-03-17 MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0007086 autosomal dominant Alport syndrome skos:exactMatch DOID:0110032 autosomal dominant Alport syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007088 Alzheimer disease type 1 skos:exactMatch DOID:0080348 Alzheimer's disease 1 semapv:ManualMappingCuration 2023-11-19 MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:exactMatch DOID:0110053 amelogenesis imperfecta type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0007097 Finnish type amyloidosis skos:exactMatch DOID:0050637 Finnish type amyloidosis semapv:ManualMappingCuration 2023-03-17 MONDO:0007098 ACys amyloidosis skos:exactMatch DOID:0070027 CST3-related cerebral amyloid angiopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0007099 familial visceral amyloidosis skos:exactMatch DOID:0050636 familial visceral amyloidosis semapv:ManualMappingCuration 2023-03-17 MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:ManualMappingCuration 2023-11-19 MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch DOID:0060213 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007108 anal canal carcinoma skos:exactMatch DOID:6126 anal canal carcinoma semapv:ManualMappingCuration 2024-04-21 MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:exactMatch DOID:0111399 congenital dyserythropoietic anemia type III semapv:ManualMappingCuration 2023-03-17 MONDO:0007113 Angelman syndrome skos:exactMatch DOID:1932 Angelman syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007118 isolated anhidrosis with normal sweat glands skos:exactMatch DOID:0060603 isolated anhidrosis with normal sweat glands semapv:ManualMappingCuration 2023-11-19 MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:exactMatch DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007125 ankyloglossia skos:exactMatch DOID:0060604 ankyloglossia semapv:ManualMappingCuration 2023-11-19 MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:exactMatch DOID:0080603 ankylosing spondylitis 1 semapv:ManualMappingCuration 2023-11-19 MONDO:0007142 Townes-Brocks syndrome skos:exactMatch DOID:0050887 Townes-Brocks syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007145 aplasia cutis congenita skos:exactMatch DOID:0080661 nonsyndromic aplasia cutis congenita semapv:ManualMappingCuration 2023-06-18 MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:exactMatch DOID:0110070 arrhythmogenic right ventricular dysplasia 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007154 arteriovenous malformations of the brain skos:exactMatch DOID:0060688 arteriovenous malformations of the brain semapv:ManualMappingCuration 2023-03-17 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:exactMatch DOID:0111608 distal arthrogryposis type 5 semapv:ManualMappingCuration 2023-04-17 MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch DOID:0111609 distal arthrogryposis type 6 semapv:ManualMappingCuration 2023-04-17 MONDO:0007160 Stickler syndrome type 1 skos:exactMatch DOID:0080676 Stickler syndrome 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0007161 spermatogenic failure 2 skos:exactMatch DOID:0070164 spermatogenic failure 2 semapv:ManualMappingCuration 2023-11-19 MONDO:0007163 episodic ataxia type 2 skos:exactMatch DOID:0050990 episodic ataxia type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0007164 spastic ataxia 1 skos:exactMatch DOID:0050772 spastic ataxia 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007165 spastic ataxia 7 skos:exactMatch DOID:0050945 spastic ataxia 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0007172 atrial septal defect 1 skos:exactMatch DOID:0110106 atrial heart septal defect 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007173 atrial septal defect 7 skos:exactMatch DOID:0110112 atrial heart septal defect 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0007174 Lown-Ganong-Levine syndrome skos:exactMatch DOID:13087 Lown-Ganong-Levine syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:exactMatch DOID:0111228 Sveinsson chorioretinal atrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0007182 Machado-Joseph disease skos:exactMatch DOID:1440 Machado-Joseph disease semapv:ManualMappingCuration 2023-03-17 MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch DOID:0070365 nevoid basal cell carcinoma syndrome 1 semapv:ManualMappingCuration 2023-07-09 MONDO:0007187 nevoid basal cell carcinoma syndrome skos:exactMatch DOID:2512 nevoid basal cell carcinoma syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007194 familial bicuspid aortic valve skos:exactMatch DOID:0080332 bicuspid aortic valve disease semapv:ManualMappingCuration 2023-03-17 MONDO:0007197 bladder diverticulum skos:exactMatch DOID:11353 bladder diverticulum semapv:ManualMappingCuration 2023-03-17 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:exactMatch DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:exactMatch DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:ManualMappingCuration 2023-04-17 MONDO:0007208 Boomerang dysplasia skos:exactMatch DOID:0050680 Boomerang dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:exactMatch DOID:0111247 hypertension and brachydactyly syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007213 Ballard syndrome skos:exactMatch DOID:0110963 Ballard syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:exactMatch DOID:0110962 brachydactyly-preaxial hallux varus syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007215 brachydactyly type A1 skos:exactMatch DOID:0110964 brachydactyly type A1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007216 brachydactyly type A2 skos:exactMatch DOID:0110965 brachydactyly type A2 semapv:ManualMappingCuration 2023-03-17 MONDO:0007218 brachydactyly type A4 skos:exactMatch DOID:0110967 brachydactyly type A4 semapv:ManualMappingCuration 2023-03-17 MONDO:0007219 Osebold-Remondini syndrome skos:exactMatch DOID:0110968 brachydactyly type A6 semapv:ManualMappingCuration 2023-03-17 MONDO:0007220 brachydactyly type B1 skos:exactMatch DOID:0110969 brachydactyly type B1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007221 brachydactyly type C skos:exactMatch DOID:0110970 brachydactyly type C semapv:ManualMappingCuration 2023-03-17 MONDO:0007223 brachydactyly type E1 skos:exactMatch DOID:0110972 brachydactyly type E1 semapv:ManualMappingCuration 2024-04-21 MONDO:0007235 branchiooculofacial syndrome skos:exactMatch DOID:0050691 branchiooculofacial syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007239 epidermolytic ichthyosis skos:exactMatch DOID:4603 epidermolytic hyperkeratosis semapv:ManualMappingCuration 2023-03-17 MONDO:0007240 progressive familial heart block, type 1A skos:exactMatch DOID:0111074 progressive familial heart block type IA semapv:ManualMappingCuration 2024-04-21 MONDO:0007244 Caffey disease skos:exactMatch DOID:4257 Caffey disease semapv:ManualMappingCuration 2023-03-17 MONDO:0007251 campomelic dysplasia skos:exactMatch DOID:0050463 campomelic dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:ManualMappingCuration 2023-04-17 MONDO:0007254 breast cancer skos:exactMatch DOID:1612 breast cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0007266 hypertrophic cardiomyopathy 2 skos:exactMatch DOID:0110308 hypertrophic cardiomyopathy 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0007268 hypertrophic cardiomyopathy 4 skos:exactMatch DOID:0110310 hypertrophic cardiomyopathy 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0007269 dilated cardiomyopathy 1A skos:exactMatch DOID:0110425 dilated cardiomyopathy 1A semapv:ManualMappingCuration 2023-03-17 MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:exactMatch DOID:0111425 restrictive cardiomyopathy 1 semapv:ManualMappingCuration 2024-02-18 MONDO:0007280 cataract 8 multiple types skos:exactMatch DOID:0110228 cataract 8 multiple types semapv:ManualMappingCuration 2023-03-17 MONDO:0007289 cataract 13 with adult I phenotype skos:exactMatch DOID:0110242 cataract 13 with adult i phenotype semapv:ManualMappingCuration 2023-03-17 MONDO:0007290 cataract 5 multiple types skos:exactMatch DOID:0110255 cataract 5 multiple types semapv:ManualMappingCuration 2023-03-17 MONDO:0007293 leukocyte adhesion deficiency 1 skos:exactMatch DOID:0110910 leukocyte adhesion deficiency 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch DOID:3329 benign epilepsy with centrotemporal spikes semapv:ManualMappingCuration 2023-03-17 MONDO:0007296 spinocerebellar ataxia type 31 skos:exactMatch DOID:0050980 spinocerebellar ataxia type 31 semapv:ManualMappingCuration 2023-03-17 MONDO:0007297 ADan amyloidosis skos:exactMatch DOID:0070030 ITM2B-related cerebral amyloid angiopathy 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0007298 spinocerebellar ataxia type 29 skos:exactMatch DOID:0050978 spinocerebellar ataxia type 29 semapv:ManualMappingCuration 2023-03-17 MONDO:0007301 cerebrocostomandibular syndrome skos:exactMatch DOID:0111248 cerebrocostomandibular syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:exactMatch DOID:0080589 Klippel-Feil syndrome 1 semapv:ManualMappingCuration 2024-02-18 MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:exactMatch DOID:0110152 Charcot-Marie-Tooth disease type 1B semapv:ManualMappingCuration 2023-03-17 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:exactMatch DOID:0110154 Charcot-Marie-Tooth disease type 2A1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:exactMatch DOID:0110148 Charcot-Marie-Tooth disease type 1A semapv:ManualMappingCuration 2023-03-17 MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch DOID:0110153 Charcot-Marie-Tooth disease type 1E semapv:ManualMappingCuration 2023-03-17 MONDO:0007315 cherubism skos:exactMatch DOID:1856 cherubism semapv:ManualMappingCuration 2023-03-17 MONDO:0007318 Alagille syndrome skos:exactMatch DOID:9245 Alagille syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:exactMatch DOID:0060293 autosomal dominant chondrodysplasia punctata semapv:ManualMappingCuration 2023-03-17 MONDO:0007335 orofacial cleft 1 skos:exactMatch DOID:0080395 orofacial cleft 1 semapv:ManualMappingCuration 2024-08-18 MONDO:0007336 isolated cleft palate skos:exactMatch DOID:0110213 isolated cleft palate semapv:ManualMappingCuration 2023-03-17 MONDO:0007337 cleft palate-lateral synechia syndrome skos:exactMatch DOID:0080313 cleft palate-lateral synechia syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch DOID:0080344 blepharocheilodontic syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007340 cleidocranial dysplasia 1 skos:exactMatch DOID:13994 cleidocranial dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0007342 clubfoot skos:exactMatch DOID:11836 clubfoot semapv:ManualMappingCuration 2023-03-17 MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:exactMatch DOID:0090062 familial cold autoinflammatory syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007352 renal coloboma syndrome skos:exactMatch DOID:0090006 renal coloboma syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007354 coloboma of optic nerve skos:exactMatch DOID:11975 coloboma of optic nerve semapv:ManualMappingCuration 2023-03-17 MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:exactMatch DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability semapv:ManualMappingCuration 2023-03-17 MONDO:0007361 C1 inhibitor deficiency skos:exactMatch DOID:0060002 C1 inhibitor deficiency semapv:ManualMappingCuration 2023-11-19 MONDO:0007363 congenital contractural arachnodactyly skos:exactMatch DOID:0111595 congenital contractural arachnodactyly semapv:ManualMappingCuration 2023-03-17 MONDO:0007367 febrile seizures, familial, 1 skos:exactMatch DOID:0111307 familial febrile seizures 1 semapv:ManualMappingCuration 2023-11-19 MONDO:0007369 hereditary coproporphyria skos:exactMatch DOID:13269 hereditary coproporphyria semapv:ManualMappingCuration 2023-03-17 MONDO:0007374 Schnyder corneal dystrophy skos:exactMatch DOID:0060456 Schnyder corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0007375 epithelial basement membrane dystrophy skos:exactMatch DOID:0060447 epithelial basement membrane dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0007376 fleck corneal dystrophy skos:exactMatch DOID:0060448 Fleck corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0007377 granular corneal dystrophy type I skos:exactMatch DOID:0080530 granular corneal dystrophy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch DOID:0060451 Meesmann corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0007381 epithelial recurrent erosion dystrophy skos:exactMatch DOID:0070337 epithelial recurrent erosion dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0007395 craniofacial-deafness-hand syndrome skos:exactMatch DOID:0111336 craniofacial-deafness-hand syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007400 Jackson-Weiss syndrome skos:exactMatch DOID:0111337 Jackson-Weiss syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007404 Cri-du-chat syndrome skos:exactMatch DOID:12580 Cri-du-Chat syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007405 Crouzon syndrome skos:exactMatch DOID:2339 Crouzon syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007410 isolated cryptophthalmia skos:exactMatch DOID:0111717 isolated cryptophthalmia semapv:ManualMappingCuration 2023-03-17 MONDO:0007411 cutis laxa, autosomal dominant 1 skos:exactMatch DOID:0070130 autosomal dominant cutis laxa 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:exactMatch DOID:0050660 Beare-Stevenson cutis gyrata syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:exactMatch DOID:0080111 mitochondrial complex III deficiency nuclear type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007417 Darier disease skos:exactMatch DOID:2734 keratosis follicularis semapv:ManualMappingCuration 2023-03-17 MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:exactMatch DOID:0080720 autosomal dominant congenital deafness with onychodystrophy semapv:ManualMappingCuration 2023-04-17 MONDO:0007422 keratoderma hereditarium mutilans skos:exactMatch DOID:0111339 Vohwinkel syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:exactMatch DOID:0110541 autosomal dominant nonsyndromic deafness 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch DOID:13945 CADASIL semapv:ManualMappingCuration 2023-03-17 MONDO:0007434 primary failure of tooth eruption skos:exactMatch DOID:0111341 primary failure of tooth eruption semapv:ManualMappingCuration 2023-03-17 MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:exactMatch DOID:0060162 dentatorubral-pallidoluysian atrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0007445 dermatopathia pigmentosa reticularis skos:exactMatch DOID:0111342 dermatopathia pigmentosa reticularis semapv:ManualMappingCuration 2023-03-17 MONDO:0007450 neurohypophyseal diabetes insipidus skos:exactMatch DOID:12388 neurohypophyseal diabetes insipidus semapv:ManualMappingCuration 2023-03-17 MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:exactMatch DOID:0081061 nephrogenic diabetes insipidus type 2 semapv:ManualMappingCuration 2023-06-18 MONDO:0007453 maturity-onset diabetes of the young type 2 skos:exactMatch DOID:0111100 maturity-onset diabetes of the young type 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0007454 type 1 diabetes mellitus 2 skos:exactMatch DOID:0110741 type 1 diabetes mellitus 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:exactMatch DOID:0080721 calvarial doughnut lesions with bone fragility semapv:ManualMappingCuration 2023-06-18 MONDO:0007471 Doyne honeycomb retinal dystrophy skos:exactMatch DOID:0060745 Doyne honeycomb retinal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0007473 Duane retraction syndrome skos:exactMatch DOID:12557 Duane retraction syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007477 3-M syndrome skos:exactMatch DOID:0060241 3-M syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch DOID:0080723 Kenny-Caffey syndrome type 2 semapv:ManualMappingCuration 2023-04-17 MONDO:0007481 Leri-Weill dyschondrosteosis skos:exactMatch DOID:0060847 Leri-Weill dyschondrosteosis semapv:ManualMappingCuration 2023-03-17 MONDO:0007483 dyschromatosis symmetrica hereditaria skos:exactMatch DOID:0060257 dyschromatosis symmetrica hereditaria semapv:ManualMappingCuration 2023-03-17 MONDO:0007492 early-onset generalized limb-onset dystonia skos:exactMatch DOID:0060730 torsion dystonia 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007493 torsion dystonia 4 skos:exactMatch DOID:0090041 torsion dystonia 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0007495 dystonia 5 skos:exactMatch DOID:0090043 DOPA-responsive dystonia semapv:ManualMappingCuration 2023-03-17 MONDO:0007496 dystonia 12 skos:exactMatch DOID:0090056 dystonia 12 semapv:ManualMappingCuration 2023-03-17 MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:exactMatch DOID:0080725 BASAN syndrome semapv:ManualMappingCuration 2023-06-18 MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:exactMatch DOID:0111663 ectodermal dysplasia 10A semapv:ManualMappingCuration 2023-03-17 MONDO:0007510 Clouston syndrome skos:exactMatch DOID:14693 Clouston syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:exactMatch DOID:0111150 autosomal dominant isolated ectopia lentis 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:exactMatch DOID:14757 Ehlers-Danlos syndrome hypermobility type semapv:ManualMappingCuration 2023-03-17 MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:exactMatch DOID:14756 vascular type Ehlers-Danlos syndrome semapv:ManualMappingCuration 2024-04-21 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasia type skos:exactMatch DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 semapv:ManualMappingCuration 2023-06-18 MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:exactMatch DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0007534 Beckwith-Wiedemann syndrome skos:exactMatch DOID:5572 Beckwith-Wiedemann syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007537 lateral meningocele syndrome skos:exactMatch DOID:0111343 lateral meningocele syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch DOID:0110055 amelogenesis imperfecta type 3A semapv:ManualMappingCuration 2023-03-17 MONDO:0007540 multiple endocrine neoplasia type 1 skos:exactMatch DOID:10017 multiple endocrine neoplasia type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007542 Camurati-Engelmann disease skos:exactMatch DOID:4997 Camurati-Engelmann disease semapv:ManualMappingCuration 2023-03-17 MONDO:0007548 transient bullous dermolysis of the newborn skos:exactMatch DOID:0111345 transient bullous dermolysis of the newborn semapv:ManualMappingCuration 2023-03-17 MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:exactMatch DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa semapv:ManualMappingCuration 2023-03-17 MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:exactMatch DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type semapv:ManualMappingCuration 2023-03-17 MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:exactMatch DOID:0080510 epidermolysis bullosa simplex localized type semapv:ManualMappingCuration 2023-03-17 MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:exactMatch DOID:0080988 pretibial dystrophic epidermolysis bullosa semapv:ManualMappingCuration 2023-03-17 MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:exactMatch DOID:0080511 epidermolysis bullosa simplex generalized type semapv:ManualMappingCuration 2023-06-18 MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:exactMatch DOID:0060736 epidermolysis bullosa simplex Ogna type semapv:ManualMappingCuration 2023-03-17 MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:exactMatch DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation semapv:ManualMappingCuration 2023-03-17 MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:exactMatch DOID:0070303 multiple epiphyseal dysplasia 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:exactMatch DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness semapv:ManualMappingCuration 2023-03-17 MONDO:0007566 multiple self-healing squamous epithelioma skos:exactMatch DOID:5585 Ferguson-Smith tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:exactMatch DOID:0060652 familial erythrocytosis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007574 spinocerebellar ataxia type 34 skos:exactMatch DOID:0050981 spinocerebellar ataxia type 34 semapv:ManualMappingCuration 2023-03-17 MONDO:0007576 esophageal cancer skos:exactMatch DOID:5041 esophageal cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0007606 fibrodysplasia ossificans progressiva skos:exactMatch DOID:13374 fibrodysplasia ossificans progressiva semapv:ManualMappingCuration 2023-03-17 MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch DOID:0080143 congenital fibrosis of the extraocular muscles semapv:ManualMappingCuration 2023-03-17 MONDO:0007615 laurin-Sandrow syndrome skos:exactMatch DOID:0111350 Laurin-Sandrow syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007617 Coffin-Siris syndrome 1 skos:exactMatch DOID:0070042 Coffin-Siris syndrome 1 semapv:ManualMappingCuration 2024-08-18 MONDO:0007619 isolated congenital adermatoglyphia skos:exactMatch DOID:0111357 adermatoglyphia semapv:ManualMappingCuration 2023-03-17 MONDO:0007621 Floating-Harbor syndrome skos:exactMatch DOID:0111358 Floating-Harbor syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007628 foveal hypoplasia 1 skos:exactMatch DOID:0070530 foveal hypoplasia 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0007630 North Carolina macular dystrophy skos:exactMatch DOID:0070439 North Carolina macular dystrophy semapv:ManualMappingCuration 2024-04-21 MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:exactMatch DOID:0060399 chromosome 16p12.1 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007635 Frasier syndrome skos:exactMatch DOID:0050438 Frasier syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0007639 fundus albipunctatus skos:exactMatch DOID:11105 fundus albipunctatus semapv:ManualMappingCuration 2023-03-17 MONDO:0007640 Sorsby fundus dystrophy skos:exactMatch DOID:0090114 Sorsby's fundus dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0007646 Gamstorp-Wohlfart syndrome skos:exactMatch DOID:0050526 Gamstorp-Wohlfart syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch DOID:0080764 hereditary diffuse gastric cancer semapv:ManualMappingCuration 2023-04-17 MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:exactMatch DOID:4249 Gerstmann-Straussler-Scheinker syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007662 anterior segment dysgenesis 4 skos:exactMatch DOID:0080609 anterior segment dysgenesis 4 semapv:ManualMappingCuration 2024-04-21 MONDO:0007669 renal cysts and diabetes syndrome skos:exactMatch DOID:0111101 maturity-onset diabetes of the young type 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0007672 glomuvenous malformation skos:exactMatch DOID:7996 familial glomangioma semapv:ManualMappingCuration 2023-03-17 MONDO:0007686 gray platelet syndrome skos:exactMatch DOID:0111044 gray platelet syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007690 aromatase excess syndrome skos:exactMatch DOID:0090122 aromatase excess syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007698 hand-foot-genital syndrome skos:exactMatch DOID:0060739 hand-foot-genital syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007700 hawkinsinuria skos:exactMatch DOID:0111362 hawkinsinuria semapv:ManualMappingCuration 2023-03-17 MONDO:0007705 Heinz body anemia skos:exactMatch DOID:0111363 Heinz body anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:exactMatch DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007726 hip dysplasia, Beukes type skos:exactMatch DOID:0111367 Beukes hip dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0007727 autosomal dominant familial periodic fever skos:exactMatch DOID:0090018 autosomal dominant familial periodic fever semapv:ManualMappingCuration 2023-03-17 MONDO:0007732 Holt-Oram syndrome skos:exactMatch DOID:0060468 Holt-Oram syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007733 holoprosencephaly 3 skos:exactMatch DOID:0110875 holoprosencephaly 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0007737 humeroradial synostosis skos:exactMatch DOID:0060467 humeroradial synostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:exactMatch DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:ManualMappingCuration 2023-03-17 MONDO:0007739 Huntington disease skos:exactMatch DOID:12858 Huntington's disease semapv:ManualMappingCuration 2023-03-17 MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch DOID:0111369 hyperalphalipoproteinemia 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0007747 isolated hyperchlorhidrosis skos:exactMatch DOID:0111371 isolated hyperchlorhidrosis semapv:ManualMappingCuration 2023-03-17 MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:exactMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:ManualMappingCuration 2024-10-20 MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:ManualMappingCuration 2023-04-17 MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:1171 hyperlipoproteinemia type V semapv:ManualMappingCuration 2023-03-17 MONDO:0007763 nonpapillary renal cell carcinoma skos:exactMatch DOID:0050387 nonpapillary renal cell carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:exactMatch DOID:0080037 Worth syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation semapv:ManualMappingCuration 2023-03-17 MONDO:0007784 selective pituitary resistance to thyroid hormone skos:exactMatch DOID:0111374 selective pituitary thyroid hormone resistance semapv:ManualMappingCuration 2023-03-17 MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:exactMatch DOID:0111060 Ambras type hypertrichosis universalis congenita semapv:ManualMappingCuration 2023-03-17 MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:exactMatch DOID:0050540 Charcot-Marie-Tooth disease type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:exactMatch DOID:0060700 familial hypocalciuric hypercalcemia 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:exactMatch DOID:0060701 familial hypocalciuric hypercalcemia 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0007793 hypochondroplasia skos:exactMatch DOID:0080041 hypochondroplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:exactMatch DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007800 chromosome 18p deletion syndrome skos:exactMatch DOID:0060406 chromosome 18p deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007804 Pallister-Hall syndrome skos:exactMatch DOID:9248 Pallister-Hall syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007805 hypotrichosis 2 skos:exactMatch DOID:0110699 hypotrichosis 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:exactMatch DOID:1702 ichthyosis vulgaris semapv:ManualMappingCuration 2023-11-19 MONDO:0007813 superficial epidermolytic ichthyosis skos:exactMatch DOID:0060877 bullous congenital ichthyosiform erythroderma semapv:ManualMappingCuration 2023-03-17 MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant skos:exactMatch DOID:3261 hyper IgE recurrent infection syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:exactMatch DOID:0081075 Marsili syndrome semapv:ManualMappingCuration 2024-02-18 MONDO:0007836 IVIC syndrome skos:exactMatch DOID:0111381 IVIC syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007838 Jacobsen syndrome skos:exactMatch DOID:0111723 Jacobsen Syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007841 coxopodopatellar syndrome skos:exactMatch DOID:0111382 ischiocoxopodopatellar syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:exactMatch DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia semapv:ManualMappingCuration 2023-03-17 MONDO:0007846 KBG syndrome skos:exactMatch DOID:14780 KBG syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007848 autosomal dominant keratitis skos:exactMatch DOID:0111383 autosomal dominant keratitis semapv:ManualMappingCuration 2023-03-17 MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:exactMatch DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome semapv:ManualMappingCuration 2024-04-21 MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:exactMatch DOID:0111505 palmoplantar keratoderma-deafness syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:exactMatch DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:exactMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:ManualMappingCuration 2023-06-18 MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:ManualMappingCuration 2024-10-20 MONDO:0007862 Waardenburg syndrome type 3 skos:exactMatch DOID:0110949 Waardenburg syndrome type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0007864 angioosteohypertrophic syndrome skos:exactMatch DOID:2926 Klippel-Trenaunay syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007866 Bart-Pumphrey syndrome skos:exactMatch DOID:0050658 Bart-Pumphrey syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007872 LADD syndrome skos:exactMatch DOID:0050331 lacrimoauriculodentodigital syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0007872 LADD syndrome skos:exactMatch DOID:0081370 LADD syndrome semapv:ManualMappingCuration 2024-04-21 MONDO:0007874 trichorhinophalangeal syndrome type II skos:exactMatch DOID:4998 trichorhinophalangeal syndrome type II semapv:ManualMappingCuration 2023-03-17 MONDO:0007875 Larsen syndrome skos:exactMatch DOID:14764 Larsen syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007878 congenital laryngomalacia skos:exactMatch DOID:0080833 laryngomalacia semapv:ManualMappingCuration 2023-04-17 MONDO:0007885 Legg-Calve-Perthes disease skos:exactMatch DOID:14415 Legg-Calve-Perthes disease semapv:ManualMappingCuration 2023-03-17 MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:exactMatch DOID:0111507 Lenz-Majewski hyperostotic dwarfism semapv:ManualMappingCuration 2023-03-17 MONDO:0007893 Noonan syndrome with multiple lentigines skos:exactMatch DOID:14291 Noonan syndrome with multiple lentigines semapv:ManualMappingCuration 2023-03-17 MONDO:0007895 platyspondylic dysplasia, Torrance type skos:exactMatch DOID:0111508 Torrance type platyspondylic dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:exactMatch DOID:0080081 nonsyndromic congenital nail disorder 3 semapv:ManualMappingCuration 2023-11-19 MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch DOID:0070202 familial partial lipodystrophy type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0007909 familial multiple lipomatosis skos:exactMatch DOID:0070518 familial multiple lipomatosis semapv:ManualMappingCuration 2024-04-21 MONDO:0007915 systemic lupus erythematosus skos:exactMatch DOID:9074 systemic lupus erythematosus semapv:ManualMappingCuration 2023-03-17 MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:exactMatch DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation semapv:ManualMappingCuration 2023-03-17 MONDO:0007920 lymphatic malformation 5 skos:exactMatch DOID:0070213 hereditary lymphedema II semapv:ManualMappingCuration 2023-03-17 MONDO:0007922 lymphedema-distichiasis syndrome skos:exactMatch DOID:0111509 lymphedema-distichiasis syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:exactMatch DOID:0090016 chromosome 5q deletion syndrome semapv:ManualMappingCuration 2024-06-23 MONDO:0007935 cystoid macular edema skos:exactMatch DOID:4447 cystoid macular edema semapv:ManualMappingCuration 2023-03-17 MONDO:0007937 renal hypomagnesemia 2 skos:exactMatch DOID:0060885 renal hypomagnesemia 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0007938 46,XY sex reversal 4 skos:exactMatch DOID:0111771 46,XY sex reversal 4 semapv:ManualMappingCuration 2023-11-19 MONDO:0007943 Nager acrofacial dysostosis skos:exactMatch DOID:5768 Nager acrofacial dysostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0007946 jaw-winking syndrome skos:exactMatch DOID:560 jaw-winking syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007947 Marfan syndrome skos:exactMatch DOID:14323 Marfan syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007949 Marshall syndrome skos:exactMatch DOID:0111510 Marshall syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007953 Binder syndrome skos:exactMatch DOID:14683 Binder syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch DOID:0050547 familial medullary thyroid carcinoma semapv:ManualMappingCuration 2023-03-17 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch DOID:10041 dysplastic nevus syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007970 melorheostosis skos:exactMatch DOID:4253 melorheostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0007979 metachondromatosis skos:exactMatch DOID:0111512 metachondromatosis semapv:ManualMappingCuration 2023-03-17 MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:exactMatch DOID:0080020 Jansen's metaphyseal chondrodysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:exactMatch DOID:0080021 Schmid metaphyseal chondrodysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:exactMatch DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0007986 metatropic dysplasia skos:exactMatch DOID:0111514 metatropic dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0007987 Kniest dysplasia skos:exactMatch DOID:0080045 Kniest dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0007988 autosomal dominant primary microcephaly skos:exactMatch DOID:14725 autosomal dominant microcephaly semapv:ManualMappingCuration 2023-03-17 MONDO:0007990 multiple benign circumferential skin creases on limbs skos:exactMatch DOID:0112241 multiple benign circumferential skin creases on limbs semapv:ManualMappingCuration 2023-03-17 MONDO:0008006 Mobius syndrome skos:exactMatch DOID:13501 Moebius syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008007 tooth ankylosis skos:exactMatch DOID:12661 tooth ankylosis semapv:ManualMappingCuration 2023-03-17 MONDO:0008009 monilethrix skos:exactMatch DOID:0050472 monilethrix semapv:ManualMappingCuration 2023-03-17 MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch DOID:0060732 chromosome 9p deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:exactMatch DOID:0111603 distal arthrogryposis type 7 semapv:ManualMappingCuration 2023-04-17 MONDO:0008018 Muir-Torre syndrome skos:exactMatch DOID:0050465 Muir-Torre syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008019 mullerian aplasia and hyperandrogenism skos:exactMatch DOID:0111526 Mullerian aplasia and hyperandrogenism semapv:ManualMappingCuration 2023-03-17 MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:exactMatch DOID:0111208 distal hereditary motor neuronopathy type 2A semapv:ManualMappingCuration 2024-04-21 MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:exactMatch DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 semapv:ManualMappingCuration 2023-06-18 MONDO:0008029 Bethlem myopathy skos:exactMatch DOID:0050663 Bethlem myopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:exactMatch DOID:0111193 facioscapulohumeral muscular dystrophy 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0008040 transient myeloproliferative syndrome skos:exactMatch DOID:0060888 transient myeloproliferative syndrome semapv:ManualMappingCuration 2023-11-19 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:exactMatch DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy semapv:ManualMappingCuration 2023-03-17 MONDO:0008047 episodic ataxia type 1 skos:exactMatch DOID:0050989 episodic ataxia type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch DOID:0111217 autosomal dominant centronuclear myopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch DOID:0111223 centronuclear myopathy 1 semapv:ManualMappingCuration 2023-06-18 MONDO:0008050 MYH7-related skeletal myopathy skos:exactMatch DOID:0070197 distal myopathy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008051 tubular aggregate myopathy skos:exactMatch DOID:0080089 tubular aggregate myopathy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008056 myotonic dystrophy type 1 skos:exactMatch DOID:11722 myotonic dystrophy type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008058 cylindrical spirals myopathy skos:exactMatch DOID:0080103 cylindrical spirals myopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:exactMatch DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:exactMatch DOID:0080079 nonsyndromic congenital nail disorder 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008061 nail-patella syndrome skos:exactMatch DOID:9467 nail-patella syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008070 nemaline myopathy 3 skos:exactMatch DOID:0110927 nemaline myopathy 3 semapv:ManualMappingCuration 2023-11-19 MONDO:0008075 schwannomatosis skos:exactMatch DOID:3204 schwannomatosis semapv:ManualMappingCuration 2023-03-17 MONDO:0008082 multiple endocrine neoplasia type 2B skos:exactMatch DOID:10016 multiple endocrine neoplasia type 2B semapv:ManualMappingCuration 2023-03-17 MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:exactMatch DOID:0110720 neuronal ceroid lipofuscinosis 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch DOID:0060843 hereditary neuropathy with liability to pressure palsies semapv:ManualMappingCuration 2023-03-17 MONDO:0008090 cyclic hematopoiesis skos:exactMatch DOID:5339 cyclic hematopoiesis semapv:ManualMappingCuration 2023-03-17 MONDO:0008092 hereditary neutrophilia skos:exactMatch DOID:0090120 hereditary neutrophilia semapv:ManualMappingCuration 2023-03-17 MONDO:0008093 nevus, epidermal skos:exactMatch DOID:0111162 epidermal nevus semapv:ManualMappingCuration 2023-03-17 MONDO:0008094 familial multiple nevi flammei skos:exactMatch DOID:0111529 familial multiple nevi flammei semapv:ManualMappingCuration 2023-03-17 MONDO:0008097 linear nevus sebaceous syndrome skos:exactMatch DOID:0111530 linear nevus sebaceous syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008111 oculodentodigital dysplasia skos:exactMatch DOID:0060291 oculodentodigital dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0008116 oculopharyngeal muscular dystrophy skos:exactMatch DOID:11719 oculopharyngeal muscular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0008119 spinocerebellar ataxia type 1 skos:exactMatch DOID:0050954 spinocerebellar ataxia type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008123 autosomal dominant omodysplasia skos:exactMatch DOID:0080845 omodysplasia 2 semapv:ManualMappingCuration 2023-06-18 MONDO:0008133 optic atrophy 3 skos:exactMatch DOID:0111433 optic atrophy 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch DOID:0111441 optic atrophy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008136 isolated optic nerve hypoplasia skos:exactMatch DOID:0111531 bilateral optic nerve hypoplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0008137 orofaciodigital syndrome X skos:exactMatch DOID:0060380 orofaciodigital syndrome X semapv:ManualMappingCuration 2023-03-17 MONDO:0008145 Ollier disease skos:exactMatch DOID:4624 Ollier disease semapv:ManualMappingCuration 2023-03-17 MONDO:0008146 osteogenesis imperfecta type 1 skos:exactMatch DOID:0110334 osteogenesis imperfecta type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008147 osteogenesis imperfecta type 2 skos:exactMatch DOID:0110341 osteogenesis imperfecta type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0008148 osteogenesis imperfecta type 4 skos:exactMatch DOID:0110340 osteogenesis imperfecta type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0008150 osteoglophonic dwarfism skos:exactMatch DOID:0111532 osteoglophonic dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0008151 gnathodiaphyseal dysplasia skos:exactMatch DOID:0111533 gnathodiaphyseal dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:exactMatch DOID:0111534 multicentric carpotarsal osteolysis syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008153 progressive osseous heteroplasia skos:exactMatch DOID:0111535 progressive osseous heteroplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0008156 autosomal dominant osteopetrosis 2 skos:exactMatch DOID:0110938 autosomal dominant osteopetrosis 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0008157 Buschke-Ollendorff syndrome skos:exactMatch DOID:0111536 Buschke-Ollendorff syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008170 ovarian cancer skos:exactMatch DOID:2394 ovarian cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:exactMatch DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008179 paroxysmal extreme pain disorder skos:exactMatch DOID:0111537 paroxysmal extreme pain disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0008183 annular pancreas skos:exactMatch DOID:0060850 annular pancreas semapv:ManualMappingCuration 2023-03-17 MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:exactMatch DOID:0111538 paramyotonia congenita of Von Eulenburg semapv:ManualMappingCuration 2023-03-17 MONDO:0008196 parastremmatic dwarfism skos:exactMatch DOID:0111539 parastremmatic dwarfism semapv:ManualMappingCuration 2023-03-17 MONDO:0008199 late-onset Parkinson disease skos:exactMatch DOID:0060892 late onset Parkinson's disease semapv:ManualMappingCuration 2023-03-17 MONDO:0008201 Perry syndrome skos:exactMatch DOID:0060486 Perry syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008207 chondromalacia patellae skos:exactMatch DOID:13357 chondromalacia patellae semapv:ManualMappingCuration 2023-03-17 MONDO:0008209 Char syndrome skos:exactMatch DOID:0060563 Char syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008210 patterned macular dystrophy 1 skos:exactMatch DOID:0060866 patterned macular dystrophy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:exactMatch DOID:0060785 adult-onset autosomal dominant demyelinating leukodystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0008218 Hailey-Hailey disease skos:exactMatch DOID:0050429 Hailey-Hailey disease semapv:ManualMappingCuration 2023-03-17 MONDO:0008221 prolidase deficiency skos:exactMatch DOID:0111540 prolidase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0008222 Andersen-Tawil syndrome skos:exactMatch DOID:0050434 Andersen-Tawil syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch DOID:14452 hypokalemic periodic paralysis semapv:ManualMappingCuration 2023-03-17 MONDO:0008224 hyperkalemic periodic paralysis skos:exactMatch DOID:14451 hyperkalemic periodic paralysis semapv:ManualMappingCuration 2023-03-17 MONDO:0008231 Peyronie disease skos:exactMatch DOID:8616 Peyronie's disease semapv:ManualMappingCuration 2024-04-21 MONDO:0008233 pheochromocytoma skos:exactMatch DOID:0050771 pheochromocytoma semapv:ManualMappingCuration 2024-08-18 MONDO:0008234 multiple endocrine neoplasia type 2A skos:exactMatch DOID:0050430 multiple endocrine neoplasia type 2A semapv:ManualMappingCuration 2023-03-17 MONDO:0008244 piebaldism skos:exactMatch DOID:3263 piebaldism semapv:ManualMappingCuration 2023-03-17 MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:exactMatch DOID:0111541 pigmented paravenous chorioretinal atrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0008250 isolated growth hormone deficiency type II skos:exactMatch DOID:0060872 isolated growth hormone deficiency type II semapv:ManualMappingCuration 2023-03-17 MONDO:0008259 familial spontaneous pneumothorax skos:exactMatch DOID:0080218 primary spontaneous pneumothorax semapv:ManualMappingCuration 2023-03-17 MONDO:0008260 Kindler syndrome skos:exactMatch DOID:0060472 Kindler syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008262 Poland syndrome skos:exactMatch DOID:12961 Poland syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008265 polycystic liver disease 1 skos:exactMatch DOID:0060980 polycystic liver disease 1 semapv:ManualMappingCuration 2024-10-20 MONDO:0008267 orofaciodigital syndrome V skos:exactMatch DOID:0060375 orofaciodigital syndrome V semapv:ManualMappingCuration 2023-03-17 MONDO:0008275 familial expansile osteolysis skos:exactMatch DOID:0111542 familial expansile osteolysis semapv:ManualMappingCuration 2023-03-17 MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:exactMatch DOID:0050787 juvenile polyposis syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:exactMatch DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008280 Peutz-Jeghers syndrome skos:exactMatch DOID:3852 Peutz-Jeghers syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008283 Cronkhite-Canada syndrome skos:exactMatch DOID:6225 Cronkhite-Canada syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:exactMatch DOID:14761 Greig cephalopolysyndactyly syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch DOID:0090125 brain small vessel disease 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:exactMatch DOID:0080213 punctate palmoplantar keratoderma type II semapv:ManualMappingCuration 2023-03-17 MONDO:0008294 acute intermittent porphyria skos:exactMatch DOID:3890 acute intermittent porphyria semapv:ManualMappingCuration 2023-03-17 MONDO:0008297 variegate porphyria skos:exactMatch DOID:4346 variegate porphyria semapv:ManualMappingCuration 2023-03-17 MONDO:0008300 Prader-Willi syndrome skos:exactMatch DOID:11983 Prader-Willi syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008301 Guttmacher syndrome skos:exactMatch DOID:0111544 Guttmacher syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008303 familial male-limited precocious puberty skos:exactMatch DOID:0111545 familial male-limited precocious puberty semapv:ManualMappingCuration 2024-04-21 MONDO:0008305 Currarino triad skos:exactMatch DOID:0111546 Currarino syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008306 ABri amyloidosis skos:exactMatch DOID:0070029 ITM2B-related cerebral amyloid angiopathy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:exactMatch DOID:3911 progeria semapv:ManualMappingCuration 2023-03-17 MONDO:0008315 prostate cancer skos:exactMatch DOID:10283 prostate cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0008318 Proteus syndrome skos:exactMatch DOID:13482 Proteus syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008322 pseudoachondroplasia skos:exactMatch DOID:0080047 pseudoachondroplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0008323 Liddle syndrome skos:exactMatch DOID:0050477 Liddle syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:exactMatch DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008332 platelet-type von Willebrand disease skos:exactMatch DOID:0111056 platelet-type bleeding disorder 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A semapv:ManualMappingCuration 2023-04-17 MONDO:0008340 ptosis, hereditary congenital, 1 skos:exactMatch DOID:0060261 congenital ptosis semapv:ManualMappingCuration 2023-03-17 MONDO:0008371 Dowling-Degos disease skos:exactMatch DOID:0060256 Dowling-Degos disease semapv:ManualMappingCuration 2023-03-17 MONDO:0008373 retinal arterial tortuosity skos:exactMatch DOID:0111547 retinal arterial tortuosity semapv:ManualMappingCuration 2023-03-17 MONDO:0008380 retinoblastoma skos:exactMatch DOID:768 retinoblastoma semapv:ManualMappingCuration 2023-03-17 MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:exactMatch DOID:0110120 Axenfeld-Rieger syndrome type 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0008387 ring dermoid of cornea skos:exactMatch DOID:0111548 ring dermoid of cornea semapv:ManualMappingCuration 2023-03-17 MONDO:0008394 Silver-Russell syndrome skos:exactMatch DOID:14681 Silver-Russell syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008397 aplasia of lacrimal and salivary glands skos:exactMatch DOID:0111549 aplasia of lacrimal and salivary glands semapv:ManualMappingCuration 2023-03-17 MONDO:0008404 scalp-ear-nipple syndrome skos:exactMatch DOID:0111550 scalp-ear-nipple syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:exactMatch DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type semapv:ManualMappingCuration 2023-03-17 MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant skos:exactMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:ManualMappingCuration 2023-08-20 MONDO:0008410 Scheuermann disease skos:exactMatch DOID:13300 Scheuermann's disease semapv:ManualMappingCuration 2023-03-17 MONDO:0008411 ulnar-mammary syndrome skos:exactMatch DOID:0060614 ulnar-mammary syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008412 intestinal schistosomiasis skos:exactMatch DOID:0050597 intestinal schistosomiasis semapv:ManualMappingCuration 2024-04-21 MONDO:0008422 autosomal dominant sideroblastic anemia skos:exactMatch DOID:0060335 autosomal dominant sideroblastic anemia 4 semapv:ManualMappingCuration 2024-04-21 MONDO:0008428 septooptic dysplasia skos:exactMatch DOID:0060857 septooptic dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0008434 Smith-Magenis syndrome skos:exactMatch DOID:0060768 Smith-Magenis syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008437 hereditary spastic paraplegia 3A skos:exactMatch DOID:0110791 hereditary spastic paraplegia 3A semapv:ManualMappingCuration 2023-03-17 MONDO:0008438 hereditary spastic paraplegia 4 skos:exactMatch DOID:0110792 hereditary spastic paraplegia 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 skos:exactMatch DOID:0111200 autosomal dominant distal hereditary motor neuronopathy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant skos:exactMatch DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0008457 spinocerebellar ataxia type 6 skos:exactMatch DOID:0050956 spinocerebellar ataxia type 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch DOID:0050955 spinocerebellar ataxia type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0008458 spinocerebellar ataxia type 2 skos:exactMatch DOID:0060204 amyotrophic lateral sclerosis type 13 semapv:ManualMappingCuration 2023-03-17 MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:exactMatch DOID:14789 spondyloepiphyseal dysplasia congenita semapv:ManualMappingCuration 2023-03-17 MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:exactMatch DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type semapv:ManualMappingCuration 2023-03-17 MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda semapv:ManualMappingCuration 2024-04-21 MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type semapv:ManualMappingCuration 2023-03-17 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:exactMatch DOID:0111554 spondylometaphyseal dysplasia Kozlowski type semapv:ManualMappingCuration 2023-03-17 MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:ManualMappingCuration 2023-04-17 MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:exactMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:ManualMappingCuration 2023-06-18 MONDO:0008485 sebocystomatosis skos:exactMatch DOID:0111556 steatocystoma multiplex semapv:ManualMappingCuration 2023-03-17 MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:ManualMappingCuration 2023-03-17 MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:exactMatch DOID:4258 Weissenbacher-Zweymuller syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008492 stiff skin syndrome skos:exactMatch DOID:0111561 stiff skin syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008493 overhydrated hereditary stomatocytosis skos:exactMatch DOID:0111562 overhydrated hereditary stomatocytosis semapv:ManualMappingCuration 2023-03-17 MONDO:0008497 Stormorken syndrome skos:exactMatch DOID:0060354 Stormorken syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008501 Sturge-Weber syndrome skos:exactMatch DOID:0111563 Sturge-Weber syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008504 supravalvular aortic stenosis skos:exactMatch DOID:1929 supravalvular aortic stenosis semapv:ManualMappingCuration 2023-03-17 MONDO:0008511 proximal symphalangism skos:exactMatch DOID:0050788 proximal symphalangism semapv:ManualMappingCuration 2023-03-17 MONDO:0008512 syndactyly type 1 skos:exactMatch DOID:0111816 syndactyly type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008514 syndactyly type 3 skos:exactMatch DOID:0111817 syndactyly type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0008515 syndactyly type 4 skos:exactMatch DOID:0111818 syndactyly type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0008516 syndactyly type 5 skos:exactMatch DOID:0111819 syndactyly type 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0008519 multiple synostoses syndrome 1 skos:exactMatch DOID:0081317 multiple synostoses syndrome 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0008521 tarsal-carpal coalition syndrome skos:exactMatch DOID:0050789 tarsal-carpal coalition syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008523 Blau syndrome skos:exactMatch DOID:0050678 Blau syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008553 platelet-type bleeding disorder 17 skos:exactMatch DOID:0111049 platelet-type bleeding disorder 17 semapv:ManualMappingCuration 2023-03-17 MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch DOID:0080701 prothrombin thrombophilia semapv:ManualMappingCuration 2023-04-17 MONDO:0008559 thrombophilia due to thrombin defect skos:exactMatch DOID:0111907 thrombophilia due to thrombin defect semapv:ManualMappingCuration 2023-03-17 MONDO:0008560 thrombophilia due to activated protein C resistance skos:exactMatch DOID:0111902 thrombophilia due to activated protein C resistance semapv:ManualMappingCuration 2023-03-17 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:exactMatch DOID:0111564 hypoplastic or aplastic tibia with polydactyly semapv:ManualMappingCuration 2023-11-19 MONDO:0008582 tooth and nail syndrome skos:exactMatch DOID:6678 tooth and nail syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008592 tricho-dento-osseous syndrome skos:exactMatch DOID:0111565 trichodontoosseous syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008597 trichorhinophalangeal syndrome, type III skos:exactMatch DOID:0080376 trichorhinophalangeal syndrome type III semapv:ManualMappingCuration 2023-03-17 MONDO:0008610 blue color blindness skos:exactMatch DOID:11661 blue color blindness semapv:ManualMappingCuration 2023-03-17 MONDO:0008627 ureter cancer skos:exactMatch DOID:11819 ureter cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0008633 Muckle-Wells syndrome skos:exactMatch DOID:0050854 Muckle-Wells syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008638 varicose disease skos:exactMatch DOID:799 varicose veins semapv:ManualMappingCuration 2023-03-17 MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:exactMatch DOID:0111567 retinal vasculopathy with cerebral leukodystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0008642 VACTERL/vater association skos:exactMatch DOID:14679 VACTERL association semapv:ManualMappingCuration 2023-03-17 MONDO:0008647 hypertrophic cardiomyopathy 1 skos:exactMatch DOID:0110307 hypertrophic cardiomyopathy 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0008652 congenital vertical talus skos:exactMatch DOID:0111568 congenital vertical talus semapv:ManualMappingCuration 2023-03-17 MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:exactMatch DOID:0050948 autosomal dominant hypophosphatemic rickets semapv:ManualMappingCuration 2023-03-17 MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:exactMatch DOID:0111569 autosomal dominant vitreoretinochoroidopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0008663 snowflake vitreoretinal degeneration skos:exactMatch DOID:0111570 snowflake vitreoretinal degeneration semapv:ManualMappingCuration 2023-03-17 MONDO:0008667 von Hippel-Lindau disease skos:exactMatch DOID:14175 von Hippel-Lindau disease semapv:ManualMappingCuration 2023-03-17 MONDO:0008668 von Willebrand disease 1 skos:exactMatch DOID:0060573 von Willebrand's disease 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008670 Waardenburg syndrome type 1 skos:exactMatch DOID:0110948 Waardenburg syndrome type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008671 Waardenburg syndrome type 2A skos:exactMatch DOID:0110950 Waardenburg syndrome type 2A semapv:ManualMappingCuration 2024-04-21 MONDO:0008672 Watson syndrome skos:exactMatch DOID:0070483 Watson syndrome semapv:ManualMappingCuration 2024-04-21 MONDO:0008673 acrofacial dysostosis, Weyers type skos:exactMatch DOID:0111571 Weyers acrofacial dysostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0008676 white sponge nevus 1 skos:exactMatch DOID:0081287 white sponge nevus 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0008678 Williams syndrome skos:exactMatch DOID:1928 Williams-Beuren syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008681 WAGR syndrome skos:exactMatch DOID:14515 WAGR syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008682 Denys-Drash syndrome skos:exactMatch DOID:3764 Denys-Drash syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008684 Wolf-Hirschhorn syndrome skos:exactMatch DOID:0050460 Wolf-Hirschhorn syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008686 isolated familial wooly hair disorder skos:exactMatch DOID:0111572 familial woolly hair syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:exactMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:ManualMappingCuration 2023-06-18 MONDO:0008692 abetalipoproteinemia skos:exactMatch DOID:1386 abetalipoproteinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0008693 ablepharon macrostomia syndrome skos:exactMatch DOID:0060550 ablepharon macrostomia syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008695 chorea-acanthocytosis skos:exactMatch DOID:0050766 choreaacanthocytosis semapv:ManualMappingCuration 2023-03-17 MONDO:0008699 achalasia microcephaly syndrome skos:exactMatch DOID:0050796 achalasia microcephaly syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008700 acheiropody skos:exactMatch DOID:0050603 acheiropody semapv:ManualMappingCuration 2023-03-17 MONDO:0008701 achondrogenesis type IA skos:exactMatch DOID:0080054 achondrogenesis type IA semapv:ManualMappingCuration 2023-03-17 MONDO:0008702 achondrogenesis type II skos:exactMatch DOID:0080056 achondrogenesis type II semapv:ManualMappingCuration 2023-03-17 MONDO:0008703 acromesomelic dysplasia 2A skos:exactMatch DOID:0080052 acromesomelic dysplasia, Grebe type semapv:ManualMappingCuration 2023-03-17 MONDO:0008708 acrocallosal syndrome skos:exactMatch DOID:9250 acrocallosal syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008713 acrodermatitis enteropathica skos:exactMatch DOID:0050605 acrodermatitis enteropathica semapv:ManualMappingCuration 2023-03-17 MONDO:0008714 acrofacial dysostosis Rodriguez type skos:exactMatch DOID:0060383 acrofacial dysostosis Rodriguez type semapv:ManualMappingCuration 2023-03-17 MONDO:0008715 acrofrontofacionasal dysostosis skos:exactMatch DOID:0060226 acrofrontofacionasal dysostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:exactMatch DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type semapv:ManualMappingCuration 2023-03-17 MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0080154 short chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0008733 familial glucocorticoid deficiency skos:exactMatch DOID:0080620 familial glucocorticoid deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0008737 congenital afibrinogenemia skos:exactMatch DOID:2236 congenital afibrinogenemia semapv:ManualMappingCuration 2023-03-17 MONDO:0008740 agnathia-otocephaly complex skos:exactMatch DOID:0060341 agnathia-otocephaly complex semapv:ManualMappingCuration 2023-03-17 MONDO:0008742 autosomal dominant severe congenital neutropenia skos:exactMatch DOID:0112130 autosomal dominant severe congenital neutropenia semapv:ManualMappingCuration 2023-03-17 MONDO:0008745 oculocutaneous albinism type 1A skos:exactMatch DOID:0070094 oculocutaneous albinism type IA semapv:ManualMappingCuration 2023-03-17 MONDO:0008746 oculocutaneous albinism type 2 skos:exactMatch DOID:0070096 oculocutaneous albinism type II semapv:ManualMappingCuration 2023-03-17 MONDO:0008747 oculocutaneous albinism type 3 skos:exactMatch DOID:0070097 oculocutaneous albinism type III semapv:ManualMappingCuration 2023-03-17 MONDO:0008752 Alexander disease skos:exactMatch DOID:4252 Alexander disease semapv:ManualMappingCuration 2023-03-17 MONDO:0008753 alkaptonuria skos:exactMatch DOID:9270 alkaptonuria semapv:ManualMappingCuration 2023-03-17 MONDO:0008756 alopecia - intellectual disability syndrome skos:exactMatch DOID:0080627 alopecia-mental retardation syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008757 alopecia universalis congenita skos:exactMatch DOID:0050634 alopecia universalis semapv:ManualMappingCuration 2023-03-17 MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:exactMatch DOID:0080122 Alpers-Huttenlocher syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008759 oxoglutaricaciduria skos:exactMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:ManualMappingCuration 2023-04-17 MONDO:0008760 beta-ketothiolase deficiency skos:exactMatch DOID:14723 beta-ketothiolase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0008762 autosomal recessive Alport syndrome skos:exactMatch DOID:0110033 autosomal recessive Alport syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008763 Alstrom syndrome skos:exactMatch DOID:0050473 Alstrom syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008764 Leber congenital amaurosis 1 skos:exactMatch DOID:0110078 Leber congenital amaurosis 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0008765 Leber congenital amaurosis 2 skos:exactMatch DOID:0110016 Leber congenital amaurosis 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:exactMatch DOID:0110731 neuronal ceroid lipofuscinosis 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:exactMatch DOID:0110730 neuronal ceroid lipofuscinosis 6B semapv:ManualMappingCuration 2023-03-17 MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:exactMatch DOID:0110726 neuronal ceroid lipofuscinosis 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0008771 amelogenesis imperfecta type 1G skos:exactMatch DOID:0110066 amelogenesis imperfecta type 1G semapv:ManualMappingCuration 2023-03-17 MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:exactMatch DOID:0111453 2-aminoadipic 2-oxoadipic aciduria semapv:ManualMappingCuration 2023-03-17 MONDO:0008777 gelatinous drop-like corneal dystrophy skos:exactMatch DOID:0060449 gelatinous drop-like corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:exactMatch DOID:0060194 juvenile amyotrophic lateral sclerosis 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0008783 Tangier disease skos:exactMatch DOID:1388 Tangier disease semapv:ManualMappingCuration 2023-03-17 MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:exactMatch DOID:0111578 Gillespie syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008797 anodontia skos:exactMatch DOID:13714 anodontia semapv:ManualMappingCuration 2023-03-17 MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:exactMatch DOID:0080082 nonsyndromic congenital nail disorder 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:exactMatch DOID:0111801 syndromic microphthalmia 3 semapv:ManualMappingCuration 2023-04-17 MONDO:0008800 microphthalmia with limb anomalies skos:exactMatch DOID:0060861 microphthalmia with limb anomalies semapv:ManualMappingCuration 2023-03-17 MONDO:0008803 Antley-Bixler syndrome skos:exactMatch DOID:0050462 Antley-Bixler syndrome with disordered steroidogenesis semapv:ManualMappingCuration 2023-03-17 MONDO:0008803 Antley-Bixler syndrome skos:exactMatch DOID:0081289 Antley-Bixler syndrome semapv:ManualMappingCuration 2023-04-17 MONDO:0008810 familial apolipoprotein C-II deficiency skos:exactMatch DOID:0111418 familial apolipoprotein C-II deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0008814 hyperargininemia skos:exactMatch DOID:9278 hyperargininemia semapv:ManualMappingCuration 2023-03-17 MONDO:0008815 argininosuccinic aciduria skos:exactMatch DOID:14755 argininosuccinic aciduria semapv:ManualMappingCuration 2023-03-17 MONDO:0008818 arterial tortuosity syndrome skos:exactMatch DOID:0050645 arterial tortuosity syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:exactMatch DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 semapv:ManualMappingCuration 2023-03-17 MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch DOID:0111375 fetal akinesia deformation sequence syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:exactMatch DOID:0090004 progressive pseudorheumatoid arthropathy of childhood semapv:ManualMappingCuration 2023-03-17 MONDO:0008830 aspartylglucosaminuria skos:exactMatch DOID:0050461 aspartylglucosaminuria semapv:ManualMappingCuration 2023-03-17 MONDO:0008832 right atrial isomerism skos:exactMatch DOID:0060856 right atrial isomerism semapv:ManualMappingCuration 2023-03-17 MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:exactMatch DOID:0111579 asthma, nasal polyps, and aspirin intolerance semapv:ManualMappingCuration 2023-11-19 MONDO:0008840 ataxia telangiectasia skos:exactMatch DOID:12704 ataxia telangiectasia semapv:ManualMappingCuration 2023-03-17 MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:exactMatch DOID:0050754 ataxia with oculomotor apraxia type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008846 atransferrinemia skos:exactMatch DOID:0050649 atransferrinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0008847 atrichia with papular lesions skos:exactMatch DOID:0060689 atrichia with papular lesions semapv:ManualMappingCuration 2023-03-17 MONDO:0008849 atrophoderma vermiculata skos:exactMatch DOID:0080756 atrophoderma vermiculata semapv:ManualMappingCuration 2023-03-17 MONDO:0008853 Barber-Say syndrome skos:exactMatch DOID:0060549 Barber-Say syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008855 MHC class II deficiency skos:exactMatch DOID:5812 MHC class II deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0008856 immunodeficiency 27A skos:exactMatch DOID:0111955 immunodeficiency 27A semapv:ManualMappingCuration 2023-03-17 MONDO:0008858 Behr syndrome skos:exactMatch DOID:0111580 Behr syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0008863 sitosterolemia skos:exactMatch DOID:0090019 sitosterolemia semapv:ManualMappingCuration 2023-03-17 MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:exactMatch DOID:0050664 Bietti crystalline corneoretinal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0008867 biliary atresia skos:exactMatch DOID:13608 biliary atresia semapv:ManualMappingCuration 2023-03-17 MONDO:0008869 Seckel syndrome 1 skos:exactMatch DOID:0070007 Seckel syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:exactMatch DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I semapv:ManualMappingCuration 2024-04-21 MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:exactMatch DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II semapv:ManualMappingCuration 2023-03-17 MONDO:0008876 Bloom syndrome skos:exactMatch DOID:2717 Bloom syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008879 Bowen-Conradi syndrome skos:exactMatch DOID:0050684 Bowen-Conradi syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008885 Elsahy-Waters syndrome skos:exactMatch DOID:0080631 Elsahy-Waters syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:exactMatch DOID:0080526 bronchiectasis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008891 riboflavin transporter deficiency skos:exactMatch DOID:0050694 Brown-Vialetto-Van Laere syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:exactMatch DOID:0070226 progressive familial intrahepatic cholestasis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008893 C syndrome skos:exactMatch DOID:0111581 C syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:exactMatch DOID:0111582 hereditary arterial and articular multiple calcification syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008903 lung cancer skos:exactMatch DOID:1324 lung cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0008907 PMM2-congenital disorder of glycosylation skos:exactMatch DOID:0080552 congenital disorder of glycosylation Ia semapv:ManualMappingCuration 2023-03-17 MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:exactMatch DOID:0070253 congenital disorder of glycosylation type IIa semapv:ManualMappingCuration 2023-03-17 MONDO:0008913 cardiac valvular defect, developmental skos:exactMatch DOID:0080633 developmental cardiac valvular defect semapv:ManualMappingCuration 2023-03-17 MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:exactMatch DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:exactMatch DOID:0111585 carnitine-acylcarnitine translocase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0008919 systemic primary carnitine deficiency disease skos:exactMatch DOID:14365 systemic primary carnitine deficiency disease semapv:ManualMappingCuration 2023-03-17 MONDO:0008922 Sengers syndrome skos:exactMatch DOID:0080132 Sengers syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0008925 cataract 46 juvenile-onset skos:exactMatch DOID:0110243 cataract 46 juvenile-onset semapv:ManualMappingCuration 2023-03-17 MONDO:0008926 COFS syndrome skos:exactMatch DOID:0080910 cerebrooculofacioskeletal syndrome semapv:ManualMappingCuration 2023-04-17 MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:exactMatch DOID:0090015 Cenani-Lenz syndactyly syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:exactMatch DOID:0111587 Gordon Holmes syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:exactMatch DOID:0070338 cerebellar hypoplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:exactMatch DOID:0080061 autosomal recessive spinocerebellar ataxia 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0008944 Joubert syndrome 1 skos:exactMatch DOID:0110980 Joubert syndrome 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch DOID:0060230 basal ganglia calcification semapv:ManualMappingCuration 2023-03-17 MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch DOID:4810 cerebrotendinous xanthomatosis semapv:ManualMappingCuration 2023-03-17 MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:exactMatch DOID:0080476 peroxisome biogenesis disorder 1A semapv:ManualMappingCuration 2023-04-17 MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:exactMatch DOID:0080477 peroxisome biogenesis disorder 2A semapv:ManualMappingCuration 2023-04-17 MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:exactMatch DOID:0080911 cerebrooculofacioskeletal syndrome 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:exactMatch DOID:0080590 Klippel-Feil syndrome 2 semapv:ManualMappingCuration 2024-02-18 MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:exactMatch DOID:0110185 Charcot-Marie-Tooth disease type 4A semapv:ManualMappingCuration 2023-03-17 MONDO:0008962 Griscelli syndrome type 1 skos:exactMatch DOID:0060832 Griscelli syndrome type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008963 Chediak-Higashi syndrome skos:exactMatch DOID:2935 Chediak-Higashi syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008964 congenital secretory chloride diarrhea 1 skos:exactMatch DOID:0060296 congenital secretory chloride diarrhea 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008965 CHARGE syndrome skos:exactMatch DOID:0050834 CHARGE syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008966 Aagenaes syndrome skos:exactMatch DOID:6691 Aagenaes syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008967 congenital bile acid synthesis defect 4 skos:exactMatch DOID:0111068 congenital bile acid synthesis defect 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch DOID:0060387 chondrodysplasia Blomstrand type semapv:ManualMappingCuration 2023-03-17 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:exactMatch DOID:0110851 rhizomelic chondrodysplasia punctata type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0008974 Greenberg dysplasia skos:exactMatch DOID:0111588 Greenberg dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:ManualMappingCuration 2023-03-17 MONDO:0008978 chordoma skos:exactMatch DOID:3302 chordoma semapv:ManualMappingCuration 2023-03-17 MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:exactMatch DOID:0111265 Boucher-Neuhauser syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008988 citrullinemia type I skos:exactMatch DOID:0070340 classic citrullinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0008995 Yunis-Varon syndrome skos:exactMatch DOID:0060589 Yunis-Varon syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0008999 Cohen syndrome skos:exactMatch DOID:0111590 Cohen syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009007 Jalili syndrome skos:exactMatch DOID:0111404 Jalili syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:exactMatch DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:ManualMappingCuration 2023-03-17 MONDO:0009009 hypoplasminogenemia skos:exactMatch DOID:0111592 plasminogen deficiency type I semapv:ManualMappingCuration 2023-04-17 MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:exactMatch DOID:0111620 corneal dystrophy-perceptive deafness syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:exactMatch DOID:0060649 congenital hereditary endothelial dystrophy of cornea semapv:ManualMappingCuration 2023-03-17 MONDO:0009020 macular corneal dystrophy skos:exactMatch DOID:2565 macular corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch DOID:4367 apparent mineralocorticoid excess syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009026 Costello syndrome skos:exactMatch DOID:0050469 Costello syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009031 craniodiaphyseal dysplasia skos:exactMatch DOID:0080032 craniodiaphyseal dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0009032 cranioectodermal dysplasia skos:exactMatch DOID:0050577 cranioectodermal dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0009033 temtamy syndrome skos:exactMatch DOID:0111621 Temtamy syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch DOID:0080802 autosomal recessive craniometaphyseal dysplasia semapv:ManualMappingCuration 2024-04-21 MONDO:0009039 Baller-Gerold syndrome skos:exactMatch DOID:0050654 Baller-Gerold syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch DOID:3803 Crigler-Najjar syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009046 Fraser syndrome skos:exactMatch DOID:0090001 Fraser syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:exactMatch DOID:0070135 autosomal recessive cutis laxa type IA semapv:ManualMappingCuration 2024-04-21 MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:exactMatch DOID:0070132 autosomal recessive cutis laxa type IIIA semapv:ManualMappingCuration 2023-03-17 MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:exactMatch DOID:0070141 autosomal recessive cutis laxa type II classic type semapv:ManualMappingCuration 2023-03-17 MONDO:0009058 cystathioninuria skos:exactMatch DOID:0090142 cystathioninuria semapv:ManualMappingCuration 2023-03-17 MONDO:0009061 cystic fibrosis skos:exactMatch DOID:1485 cystic fibrosis semapv:ManualMappingCuration 2023-03-17 MONDO:0009063 ventriculomegaly-cystic kidney disease skos:exactMatch DOID:0111625 ventriculomegaly - cystic kidney disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009067 cystinuria skos:exactMatch DOID:9266 cystinuria semapv:ManualMappingCuration 2023-03-17 MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch DOID:3762 cytochrome-c oxidase deficiency disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:exactMatch DOID:0111180 French Canadian Leigh disease semapv:ManualMappingCuration 2023-06-18 MONDO:0009070 D-glyceric aciduria skos:exactMatch DOID:0111626 D-glyceric aciduria semapv:ManualMappingCuration 2023-03-17 MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:exactMatch DOID:0060571 Ritscher-Schinzel syndrome 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0009079 DOORS syndrome skos:exactMatch DOID:0111627 DOORS syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:exactMatch DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss semapv:ManualMappingCuration 2023-03-17 MONDO:0009082 high myopia-sensorineural deafness syndrome skos:exactMatch DOID:0111628 high myopia-sensorineural deafness syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:exactMatch DOID:0111752 autosomal-mitochondrial sensorineural deafness semapv:ManualMappingCuration 2024-02-18 MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch DOID:0090112 Nasu-Hakola disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009104 Donnai-Barrow syndrome skos:exactMatch DOID:0090144 Donnai-Barrow syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch DOID:0111414 trichohepatoenteric syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009107 diastrophic dysplasia skos:exactMatch DOID:14687 diastrophic dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0009109 lysinuric protein intolerance skos:exactMatch DOID:0060439 lysinuric protein intolerance semapv:ManualMappingCuration 2023-03-17 MONDO:0009110 dicarboxylic aminoaciduria skos:exactMatch DOID:0060650 dicarboxylic aminoaciduria semapv:ManualMappingCuration 2023-03-17 MONDO:0009111 dihydropyrimidinuria skos:exactMatch DOID:0111629 dihydropyrimidinase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:exactMatch DOID:0110852 rhizomelic chondrodysplasia punctata type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:exactMatch DOID:0111630 familial erythrocytosis 8 semapv:ManualMappingCuration 2023-03-17 MONDO:0009114 congenital sucrase-isomaltase deficiency skos:exactMatch DOID:0111633 congenital sucrase-isomaltase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009115 congenital lactase deficiency skos:exactMatch DOID:0111646 congenital lactase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009123 orthostatic hypotension 1 skos:exactMatch DOID:0090145 dopamine beta-hydroxylase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009124 Dubowitz syndrome skos:exactMatch DOID:14796 Dubowitz syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009126 duodenal atresia skos:exactMatch DOID:0080216 duodenal atresia semapv:ManualMappingCuration 2023-03-17 MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch DOID:0111167 Dyggve-Melchior-Clausen disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009131 Riley-Day syndrome skos:exactMatch DOID:11589 Riley-Day syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch DOID:0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:exactMatch DOID:0111401 congenital dyserythropoietic anemia type II semapv:ManualMappingCuration 2023-03-17 MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:exactMatch DOID:0070015 autosomal recessive dyskeratosis congenita 1 semapv:ManualMappingCuration 2024-08-18 MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:exactMatch DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0009141 torsion dystonia 2 skos:exactMatch DOID:0090038 torsion dystonia 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:exactMatch DOID:0111647 Schopf-Schulz-Passarge syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:exactMatch DOID:0060773 cleft lip-palate-ectodermal dysplasia syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:exactMatch DOID:0070125 congenital nongoitrous hypothyroidism 5 semapv:ManualMappingCuration 2024-04-21 MONDO:0009155 EEM syndrome skos:exactMatch DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:exactMatch DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type semapv:ManualMappingCuration 2023-06-18 MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:exactMatch DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type semapv:ManualMappingCuration 2023-06-18 MONDO:0009162 Ellis-van Creveld syndrome skos:exactMatch DOID:12714 Ellis-Van Creveld syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009166 pontocerebellar hypoplasia type 4 skos:exactMatch DOID:0060273 pontocerebellar hypoplasia type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0009168 Fowler syndrome skos:exactMatch DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:exactMatch DOID:0111667 enterokinase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch DOID:13777 epidermodysplasia verruciformis semapv:ManualMappingCuration 2023-03-17 MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:exactMatch DOID:0060642 recessive dystrophic epidermolysis bullosa semapv:ManualMappingCuration 2023-03-17 MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:exactMatch DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:exactMatch DOID:0060737 junctional epidermolysis bullosa Herlitz type semapv:ManualMappingCuration 2023-03-17 MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:exactMatch DOID:0060733 junctional epidermolysis bullosa with pyloric atresia semapv:ManualMappingCuration 2023-03-17 MONDO:0009185 amelocerebrohypohidrotic syndrome skos:exactMatch DOID:0111668 Kohlschutter-Tonz syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:exactMatch DOID:0070300 multiple epiphyseal dysplasia 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0009192 Wolcott-Rallison syndrome skos:exactMatch DOID:0090060 Wolcott-Rallison syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009210 congenital factor V deficiency skos:exactMatch DOID:2216 factor V deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009211 congenital factor VII deficiency skos:exactMatch DOID:2215 factor VII deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009212 congenital factor X deficiency skos:exactMatch DOID:2222 factor X deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009213 Fanconi anemia complementation group C skos:exactMatch DOID:0111087 Fanconi anemia complementation group C semapv:ManualMappingCuration 2023-03-17 MONDO:0009214 Fanconi anemia complementation group D2 skos:exactMatch DOID:0111083 Fanconi anemia complementation group D2 semapv:ManualMappingCuration 2023-03-17 MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:exactMatch DOID:0070562 Fanconi-Bickel syndrome semapv:ManualMappingCuration 2024-10-20 MONDO:0009218 Farber lipogranulomatosis skos:exactMatch DOID:0050464 Farber lipogranulomatosis semapv:ManualMappingCuration 2023-03-17 MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:exactMatch DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia semapv:ManualMappingCuration 2023-03-17 MONDO:0009226 fibrochondrogenesis 1 skos:exactMatch DOID:0080672 fibrochondrogenesis 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0009229 hyaline fibromatosis syndrome skos:exactMatch DOID:0111669 hyaline fibromatosis syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009231 acromesomelic dysplasia 2B skos:exactMatch DOID:0050790 fibular hypoplasia and complex brachydactyly semapv:ManualMappingCuration 2023-03-17 MONDO:0009232 Fuhrmann syndrome skos:exactMatch DOID:0090067 Fuhrmann syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:exactMatch DOID:0111676 high molecular weight kininogen deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009235 familial benign flecked retina skos:exactMatch DOID:0111677 familial benign fleck retina semapv:ManualMappingCuration 2023-03-17 MONDO:0009238 hereditary folate malabsorption skos:exactMatch DOID:0111678 hereditary folate malabsorption semapv:ManualMappingCuration 2023-03-17 MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:exactMatch DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia semapv:ManualMappingCuration 2023-03-17 MONDO:0009240 formiminoglutamic aciduria skos:exactMatch DOID:0111679 glutamate formiminotransferase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009242 brittle cornea syndrome skos:exactMatch DOID:14775 brittle cornea syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009249 hereditary fructose intolerance skos:exactMatch DOID:9869 hereditary fructose intolerance syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:exactMatch DOID:5204 fructose-1,6-bisphosphatase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009252 essential fructosuria skos:exactMatch DOID:0111680 essential fructosuria semapv:ManualMappingCuration 2023-03-17 MONDO:0009254 fucosidosis skos:exactMatch DOID:14500 fucosidosis semapv:ManualMappingCuration 2023-03-17 MONDO:0009255 galactokinase deficiency skos:exactMatch DOID:14695 galactokinase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009257 galactose epimerase deficiency skos:exactMatch DOID:0111458 galactose epimerase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009258 classic galactosemia skos:exactMatch DOID:0111459 classic galactosemia semapv:ManualMappingCuration 2023-03-17 MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch DOID:0111681 glutamate-cysteine ligase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009260 GM1 gangliosidosis type 1 skos:exactMatch DOID:0080502 GM1 gangliosidosis type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch DOID:0080501 GM1 gangliosidosis type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch DOID:0080489 GM1 gangliosidosis type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0009263 GAPO syndrome skos:exactMatch DOID:0112249 GAPO syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009265 Gaucher disease type I skos:exactMatch DOID:0110957 Gaucher's disease type I semapv:ManualMappingCuration 2023-03-17 MONDO:0009266 Gaucher disease type II skos:exactMatch DOID:0110958 Gaucher's disease type II semapv:ManualMappingCuration 2023-03-17 MONDO:0009267 Gaucher disease type III skos:exactMatch DOID:0110959 Gaucher's disease type III semapv:ManualMappingCuration 2023-03-17 MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:ManualMappingCuration 2023-04-17 MONDO:0009271 geroderma osteodysplastica skos:exactMatch DOID:0111266 geroderma osteodysplasticum semapv:ManualMappingCuration 2023-03-17 MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:exactMatch DOID:0112251 Ghosal hematodiaphyseal syndrome semapv:ManualMappingCuration 2023-04-17 MONDO:0009276 Bernard-Soulier syndrome skos:exactMatch DOID:2217 Bernard-Soulier syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009279 triple-A syndrome skos:exactMatch DOID:0050602 triple-A syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:exactMatch DOID:0111254 glutaric acidemia I semapv:ManualMappingCuration 2023-03-17 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:exactMatch DOID:0060358 multiple acyl-CoA dehydrogenase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009283 glutaric acidemia type 3 skos:exactMatch DOID:0112246 glutaric acidemia type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch DOID:0112252 glutathione synthetase deficiency of erythrocytes semapv:ManualMappingCuration 2023-04-17 MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:exactMatch DOID:0111257 gamma-glutamyl transpeptidase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch DOID:2749 glycogen storage disease Ia semapv:ManualMappingCuration 2023-08-20 MONDO:0009288 glycogen storage disease Ib skos:exactMatch DOID:0081330 glycogen storage disease Ib semapv:ManualMappingCuration 2023-05-21 MONDO:0009288 glycogen storage disease Ib skos:exactMatch DOID:0081331 glycogen storage disease Ic semapv:ManualMappingCuration 2023-06-18 MONDO:0009290 glycogen storage disease II skos:exactMatch DOID:2752 glycogen storage disease II semapv:ManualMappingCuration 2023-03-17 MONDO:0009291 glycogen storage disease III skos:exactMatch DOID:2748 glycogen storage disease III semapv:ManualMappingCuration 2023-03-17 MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:exactMatch DOID:2750 glycogen storage disease IV semapv:ManualMappingCuration 2023-03-17 MONDO:0009293 glycogen storage disease V skos:exactMatch DOID:2746 glycogen storage disease V semapv:ManualMappingCuration 2023-03-17 MONDO:0009294 glycogen storage disease VI skos:exactMatch DOID:2754 glycogen storage disease VI semapv:ManualMappingCuration 2023-03-17 MONDO:0009295 glycogen storage disease VII skos:exactMatch DOID:11721 glycogen storage disease VII semapv:ManualMappingCuration 2023-03-17 MONDO:0009297 familial renal glucosuria skos:exactMatch DOID:9432 renal glycosuria semapv:ManualMappingCuration 2023-03-17 MONDO:0009299 46 XX gonadal dysgenesis skos:exactMatch DOID:14450 46 XX gonadal dysgenesis semapv:ManualMappingCuration 2023-03-17 MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch DOID:0111974 immunodeficiency 59 semapv:ManualMappingCuration 2023-04-17 MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:ManualMappingCuration 2023-04-17 MONDO:0009315 congenital factor XII deficiency skos:exactMatch DOID:2231 factor XII deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009318 Hallermann-Streiff syndrome skos:exactMatch DOID:4534 Hallermann-Streiff syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:exactMatch DOID:3981 pantothenate kinase-associated neurodegeneration semapv:ManualMappingCuration 2023-03-17 MONDO:0009324 Hartnup disease skos:exactMatch DOID:1060 Hartnup disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009326 congenital heart block skos:exactMatch DOID:990 congenital heart block semapv:ManualMappingCuration 2023-03-17 MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:ManualMappingCuration 2023-04-17 MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:exactMatch DOID:0112254 hepatic venoocclusive disease with immunodeficiency semapv:ManualMappingCuration 2023-04-17 MONDO:0009339 congenital bile acid synthesis defect 2 skos:exactMatch DOID:0111069 congenital bile acid synthesis defect 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0009341 Mowat-Wilson syndrome skos:exactMatch DOID:0060485 Mowat-Wilson syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009345 histidinemia skos:exactMatch DOID:0060168 histidinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:exactMatch DOID:0060566 Holzgreve-Wagner-Rehder syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009351 homocarnosinosis skos:exactMatch DOID:0060177 homocarnosinosis semapv:ManualMappingCuration 2023-03-17 MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch DOID:0050732 methylmalonic aciduria and homocystinuria type cblE semapv:ManualMappingCuration 2023-03-17 MONDO:0009354 methylcobalamin deficiency type cblE skos:exactMatch DOID:0112255 homocystinuria-megaloblastic anemia cblE type semapv:ManualMappingCuration 2023-04-17 MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:exactMatch DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly semapv:ManualMappingCuration 2023-03-17 MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:exactMatch DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009367 McKusick-Kaufman syndrome skos:exactMatch DOID:0111255 McKusick-Kaufman syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009370 L-2-hydroxyglutaric aciduria skos:exactMatch DOID:0050574 L-2-hydroxyglutaric aciduria semapv:ManualMappingCuration 2023-03-17 MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:exactMatch DOID:0112257 hydroxykynureninuria semapv:ManualMappingCuration 2023-04-17 MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:ManualMappingCuration 2023-04-17 MONDO:0009380 Dubin-Johnson syndrome skos:exactMatch DOID:12308 Dubin-Johnson syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009387 familial lipoprotein lipase deficiency skos:exactMatch DOID:14118 familial lipoprotein lipase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009388 hyperlysinemia skos:exactMatch DOID:9274 hyperlysinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0009393 ornithine translocase deficiency skos:exactMatch DOID:0050720 ornithine translocase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009394 juvenile Paget disease skos:exactMatch DOID:0081368 Paget's disease of bone 5 semapv:ManualMappingCuration 2023-07-09 MONDO:0009395 hyperostosis corticalis generalisata skos:exactMatch DOID:0080036 SOST-related sclerosing bone dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0009400 hyperprolinemia type 1 skos:exactMatch DOID:0080542 hyperprolinemia type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009401 hyperprolinemia type 2 skos:exactMatch DOID:0080543 hyperprolinemia type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:exactMatch DOID:14670 hypertelorism, microtia, facial clefting syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:exactMatch DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type semapv:ManualMappingCuration 2023-03-17 MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:exactMatch DOID:0050167 autoimmune polyendocrine syndrome type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009413 immunodeficiency, common variable, 2 skos:exactMatch DOID:0081145 common variable immunodeficiency 2 semapv:ManualMappingCuration 2023-06-18 MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:ManualMappingCuration 2023-04-17 MONDO:0009419 Woodhouse-Sakati syndrome skos:exactMatch DOID:0112264 Woodhouse-Sakati syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:exactMatch DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:exactMatch DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria semapv:ManualMappingCuration 2023-03-17 MONDO:0009437 Bamforth-Lazarus syndrome skos:exactMatch DOID:0050655 Bamforth-Lazarus syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:exactMatch DOID:0060713 autosomal recessive congenital ichthyosis 4B semapv:ManualMappingCuration 2023-03-17 MONDO:0009448 iminoglycinuria skos:exactMatch DOID:0112265 iminoglycinuria semapv:ManualMappingCuration 2023-03-17 MONDO:0009451 Nezelof syndrome skos:exactMatch DOID:2012 Nezelof syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009452 Vici syndrome skos:exactMatch DOID:0060356 Vici syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009458 Schimke immuno-osseous dysplasia skos:exactMatch DOID:0060490 Schimke immuno-osseous dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0009461 spermatogenic failure 5 skos:exactMatch DOID:0070183 spermatogenic failure 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0009465 multiple intestinal atresia skos:exactMatch DOID:14671 multiple intestinal atresia semapv:ManualMappingCuration 2023-03-17 MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:exactMatch DOID:0070231 benign recurrent intrahepatic cholestasis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009470 Baraitser-Winter syndrome 1 skos:exactMatch DOID:0081112 Baraitser-Winter syndrome 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0009475 isovaleric acidemia skos:exactMatch DOID:14753 isovaleric acidemia semapv:ManualMappingCuration 2023-03-17 MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:exactMatch DOID:0080594 hyper IgE recurrent infection syndrome 2 semapv:ManualMappingCuration 2023-06-18 MONDO:0009479 Johanson-Blizzard syndrome skos:exactMatch DOID:14694 Johanson-Blizzard syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:exactMatch DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia semapv:ManualMappingCuration 2023-11-19 MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:exactMatch DOID:0111456 Kaufman oculocerebrofacial syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch DOID:0080722 Kenny-Caffey syndrome type 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0009490 Papillon-Lefevre disease skos:exactMatch DOID:3389 Papillon-Lefevre disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009499 Krabbe disease skos:exactMatch DOID:10587 Krabbe disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:exactMatch DOID:0080128 mitochondrial DNA depletion syndrome 9 semapv:ManualMappingCuration 2023-03-17 MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:exactMatch DOID:0080575 Larsen-like syndrome B3GAT3 type semapv:ManualMappingCuration 2023-03-17 MONDO:0009514 Laurence-Moon syndrome skos:exactMatch DOID:1930 Laurence-Moon syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009515 Norum disease skos:exactMatch DOID:1391 Norum disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009517 Donohue syndrome skos:exactMatch DOID:0050470 Donohue syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:ManualMappingCuration 2024-07-21 MONDO:0009525 split hand-foot malformation 3 skos:exactMatch DOID:0090025 split hand-foot malformation 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0009528 chylomicron retention disease skos:exactMatch DOID:0060357 chylomicron retention disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009530 lipoid proteinosis skos:exactMatch DOID:14498 lipoid proteinosis semapv:ManualMappingCuration 2023-03-17 MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:exactMatch DOID:0060469 Miller-Dieker lissencephaly syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:exactMatch DOID:0060881 renal hypomagnesemia 5 with ocular involvement semapv:ManualMappingCuration 2023-03-17 MONDO:0009550 renal hypomagnesemia 3 skos:exactMatch DOID:0060880 renal hypomagnesemia 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0009552 mal de Meleda skos:exactMatch DOID:0060862 mal de Meleda semapv:ManualMappingCuration 2023-03-17 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:exactMatch DOID:0081128 mandibuloacral dysplasia type A lipodystrophy semapv:ManualMappingCuration 2023-06-18 MONDO:0009561 alpha-mannosidosis skos:exactMatch DOID:3413 alpha-mannosidosis semapv:ManualMappingCuration 2023-03-17 MONDO:0009562 beta-mannosidosis skos:exactMatch DOID:3633 beta-mannosidosis semapv:ManualMappingCuration 2023-03-17 MONDO:0009563 maple syrup urine disease skos:exactMatch DOID:9269 maple syrup urine disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009567 Marinesco-Sjogren syndrome skos:exactMatch DOID:0080195 Marinesco-Sjogren syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009568 mast syndrome skos:exactMatch DOID:0060245 MAST syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:exactMatch DOID:0090117 thiamine-responsive megaloblastic anemia syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009576 megalocornea skos:exactMatch DOID:0060305 megalocornea semapv:ManualMappingCuration 2023-03-17 MONDO:0009579 Frank-Ter Haar syndrome skos:exactMatch DOID:0111789 Frank-Ter Haar syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009580 intellectual disability, autosomal recessive 1 skos:exactMatch DOID:0081177 autosomal recessive intellectual developmental disorder 1 semapv:ManualMappingCuration 2023-06-18 MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:exactMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:ManualMappingCuration 2023-06-18 MONDO:0009595 cartilage-hair hypoplasia skos:exactMatch DOID:14773 cartilage-hair hypoplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:ManualMappingCuration 2024-07-21 MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch DOID:0050733 methylmalonic aciduria and homocystinuria type cblG semapv:ManualMappingCuration 2023-03-17 MONDO:0009609 methylcobalamin deficiency type cblG skos:exactMatch DOID:0112256 homocystinuria-megaloblastic anemia cblG type semapv:ManualMappingCuration 2023-04-17 MONDO:0009610 3-methylglutaconic aciduria type 1 skos:exactMatch DOID:0110002 3-methylglutaconic aciduria type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009611 3-methylglutaconic aciduria type 4 skos:exactMatch DOID:0110006 3-methylglutaconic aciduria type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:exactMatch DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009613 methylmalonic aciduria, cblA type skos:exactMatch DOID:0060742 methylmalonic acidemia cblA type semapv:ManualMappingCuration 2023-03-17 MONDO:0009614 methylmalonic aciduria, cblB type skos:exactMatch DOID:0060743 methylmalonic acidemia cblB type semapv:ManualMappingCuration 2023-03-17 MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:exactMatch DOID:0070285 primary autosomal recessive microcephaly 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009619 microcephaly-micromelia syndrome skos:exactMatch DOID:0081432 microcephaly-micromelia syndrome semapv:ManualMappingCuration 2024-05-19 MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch DOID:7400 Nijmegen breakage syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch DOID:0080105 microcephaly and chorioretinopathy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch DOID:0050656 pseudo-TORCH syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch DOID:0080694 Galloway-Mowat syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009635 microvillus inclusion disease skos:exactMatch DOID:0060775 microvillus inclusion disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) skos:exactMatch DOID:0080121 mitochondrial DNA depletion syndrome 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch DOID:699 mitochondrial myopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch DOID:0060959 orofaciodigital syndrome II semapv:ManualMappingCuration 2024-07-21 MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:exactMatch DOID:0111164 molybdenum cofactor deficiency type A semapv:ManualMappingCuration 2023-03-17 MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:exactMatch DOID:0111163 molybdenum cofactor deficiency type B semapv:ManualMappingCuration 2023-03-17 MONDO:0009650 mucolipidosis type II skos:exactMatch DOID:0080070 mucolipidosis II alpha/beta semapv:ManualMappingCuration 2023-03-17 MONDO:0009652 GNPTG-mucolipidosis skos:exactMatch DOID:0080678 mucolipidosis III gamma semapv:ManualMappingCuration 2023-06-18 MONDO:0009653 mucolipidosis type IV skos:exactMatch DOID:0080490 mucolipidosis type IV semapv:ManualMappingCuration 2023-03-17 MONDO:0009655 mucopolysaccharidosis type 3A skos:exactMatch DOID:0111395 mucopolysaccharidosis type IIIA semapv:ManualMappingCuration 2023-03-17 MONDO:0009656 mucopolysaccharidosis type 3B skos:exactMatch DOID:0111394 mucopolysaccharidosis type IIIB semapv:ManualMappingCuration 2023-03-17 MONDO:0009657 mucopolysaccharidosis type 3C skos:exactMatch DOID:0111393 mucopolysaccharidosis type IIIC semapv:ManualMappingCuration 2023-03-17 MONDO:0009658 mucopolysaccharidosis type 3D skos:exactMatch DOID:0111402 mucopolysaccharidosis type IIID semapv:ManualMappingCuration 2023-03-17 MONDO:0009659 mucopolysaccharidosis type 4A skos:exactMatch DOID:0111391 mucopolysaccharidosis IVA semapv:ManualMappingCuration 2023-03-17 MONDO:0009660 mucopolysaccharidosis type 4B skos:exactMatch DOID:0111392 mucopolysaccharidosis type IVB semapv:ManualMappingCuration 2023-03-17 MONDO:0009661 mucopolysaccharidosis type 6 skos:exactMatch DOID:12800 mucopolysaccharidosis VI semapv:ManualMappingCuration 2023-03-17 MONDO:0009662 mucopolysaccharidosis type 7 skos:exactMatch DOID:12803 Sly syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009664 mulibrey nanism skos:exactMatch DOID:0050436 mulibrey nanism semapv:ManualMappingCuration 2023-03-17 MONDO:0009665 biotinidase deficiency skos:exactMatch DOID:856 biotinidase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009666 holocarboxylase synthetase deficiency skos:exactMatch DOID:859 holocarboxylase synthetase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:exactMatch DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 semapv:ManualMappingCuration 2023-03-17 MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch DOID:13137 Werdnig-Hoffmann disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009670 lethal congenital contracture syndrome 1 skos:exactMatch DOID:0060559 lethal congenital contracture syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009672 spinal muscular atrophy, type III skos:exactMatch DOID:12376 juvenile spinal muscular atrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0009673 spinal muscular atrophy, type II skos:exactMatch DOID:0050530 intermediate spinal muscular atrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:exactMatch DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A semapv:ManualMappingCuration 2023-03-17 MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:exactMatch DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B semapv:ManualMappingCuration 2023-03-17 MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:exactMatch DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C semapv:ManualMappingCuration 2023-03-17 MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:exactMatch DOID:0050559 Fukuyama congenital muscular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0009679 arthrogryposis due to muscular dystrophy skos:exactMatch DOID:0110631 arthrogryposis due to muscular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0009681 Ullrich congenital muscular dystrophy 1A skos:exactMatch DOID:0060946 Ullrich congenital muscular dystrophy 1A semapv:ManualMappingCuration 2024-08-18 MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:exactMatch DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H semapv:ManualMappingCuration 2023-03-17 MONDO:0009685 Miyoshi myopathy skos:exactMatch DOID:0070198 Miyoshi muscular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0009696 juvenile myoclonic epilepsy skos:exactMatch DOID:4890 juvenile myoclonic epilepsy semapv:ManualMappingCuration 2023-03-17 MONDO:0009697 Lafora disease skos:exactMatch DOID:3534 Lafora disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch DOID:0111452 progressive myoclonus epilepsy 1A semapv:ManualMappingCuration 2023-06-18 MONDO:0009698 Unverricht-Lundborg syndrome skos:exactMatch DOID:3535 Unverricht-Lundborg syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:ManualMappingCuration 2023-04-17 MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:exactMatch DOID:0090129 carnitine palmitoyltransferase I deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009709 myopathy, centronuclear, 2 skos:exactMatch DOID:0111220 centronuclear myopathy 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0009710 Thomsen and Becker disease skos:exactMatch DOID:2106 myotonia congenita semapv:ManualMappingCuration 2023-03-17 MONDO:0009711 congenital fiber-type disproportion myopathy skos:exactMatch DOID:0080102 congenital myopathy 4A semapv:ManualMappingCuration 2023-03-17 MONDO:0009720 Keipert syndrome skos:exactMatch DOID:0111842 Keipert syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009722 Bailey-Bloch congenital myopathy skos:exactMatch DOID:0060346 Native American myopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0009723 Leigh syndrome skos:exactMatch DOID:3652 Leigh disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch DOID:0050553 proteasome-associated autoinflammatory syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch DOID:0060913 proteosome-associated autoinflammatory syndrome semapv:ManualMappingCuration 2024-04-21 MONDO:0009728 nephronophthisis 1 skos:exactMatch DOID:0111112 nephronophthisis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:exactMatch DOID:0080390 nephrotic syndrome type 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0009733 nephrotic syndrome, type 4 skos:exactMatch DOID:0080383 nephrotic syndrome type 4 semapv:ManualMappingCuration 2024-04-21 MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:exactMatch DOID:0070219 familial hyperinsulinemic hypoglycemia 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009735 Netherton syndrome skos:exactMatch DOID:0050474 Netherton syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009736 Neu-Laxova syndrome 1 skos:exactMatch DOID:0080076 Neu-Laxova syndrome 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0009737 galactosialidosis skos:exactMatch DOID:0080540 galactosialidosis semapv:ManualMappingCuration 2023-03-17 MONDO:0009738 sialidosis type 2 skos:exactMatch DOID:3343 glycoproteinosis semapv:ManualMappingCuration 2023-03-17 MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:exactMatch DOID:0110721 neuronal ceroid lipofuscinosis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:exactMatch DOID:0110728 neuronal ceroid lipofuscinosis 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:exactMatch DOID:0070146 hereditary sensory neuropathy type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) skos:exactMatch DOID:0080125 mitochondrial DNA depletion syndrome 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0009756 Niemann-Pick disease type A skos:exactMatch DOID:0070111 Niemann-Pick disease type A semapv:ManualMappingCuration 2023-03-17 MONDO:0009760 Norman-Roberts syndrome skos:exactMatch DOID:0060902 Norman-Roberts syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009762 nystagmus, congenital, autosomal recessive skos:exactMatch DOID:0111797 autosomal recessive congenital nystagmus semapv:ManualMappingCuration 2023-11-19 MONDO:0009764 ocular motor apraxia, Cogan type skos:exactMatch DOID:0080849 ocular motor apraxia, Cogan type semapv:ManualMappingCuration 2023-03-17 MONDO:0009774 cloacal exstrophy skos:exactMatch DOID:0080175 cloacal exstrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0009776 spermatogenic failure 1 skos:exactMatch DOID:0070188 spermatogenic failure 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch DOID:0080844 omodysplasia 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:exactMatch DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0009786 optic atrophy 6 skos:exactMatch DOID:0111435 optic atrophy 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0009787 3-methylglutaconic aciduria type 3 skos:exactMatch DOID:0110004 3-methylglutaconic aciduria type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0009793 orofaciodigital syndrome III skos:exactMatch DOID:0060373 orofaciodigital syndrome III semapv:ManualMappingCuration 2023-03-17 MONDO:0009794 orofaciodigital syndrome IV skos:exactMatch DOID:0060374 orofaciodigital syndrome IV semapv:ManualMappingCuration 2023-03-17 MONDO:0009795 orofaciodigital syndrome IX skos:exactMatch DOID:0060382 orofaciodigital syndrome IX semapv:ManualMappingCuration 2023-03-17 MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch DOID:1415 gyrate atrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0009797 orotic aciduria skos:exactMatch DOID:0050833 orotic aciduria semapv:ManualMappingCuration 2023-03-17 MONDO:0009804 osteogenesis imperfecta type 3 skos:exactMatch DOID:0110339 osteogenesis imperfecta type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:exactMatch DOID:0060645 chronic recurrent multifocal osteomyelitis semapv:ManualMappingCuration 2024-02-18 MONDO:0009815 autosomal recessive osteopetrosis 1 skos:exactMatch DOID:0110942 autosomal recessive osteopetrosis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009816 autosomal recessive osteopetrosis 2 skos:exactMatch DOID:0110943 autosomal recessive osteopetrosis 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch DOID:0110941 autosomal recessive osteopetrosis 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:exactMatch DOID:0060849 osteoporosis-pseudoglioma syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009823 primary hyperoxaluria type 1 skos:exactMatch DOID:0111670 primary hyperoxaluria type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009824 primary hyperoxaluria type 2 skos:exactMatch DOID:0111671 primary hyperoxaluria type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0009830 parkinsonian-pyramidal syndrome skos:exactMatch DOID:0060372 Parkinson's disease 15 semapv:ManualMappingCuration 2023-03-17 MONDO:0009832 pancreatic agenesis skos:exactMatch DOID:0050877 pancreatic agenesis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch DOID:0060479 Shwachman-Diamond syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009837 choroid plexus papilloma skos:exactMatch DOID:2626 choroid plexus papilloma semapv:ManualMappingCuration 2024-04-21 MONDO:0009841 PEHO syndrome skos:exactMatch DOID:0080539 PEHO syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009843 hypomyelinating leukodystrophy 3 skos:exactMatch DOID:0060790 hypomyelinating leukodystrophy 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0009846 pentosuria skos:exactMatch DOID:0111258 pentosuria semapv:ManualMappingCuration 2023-03-17 MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:exactMatch DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome semapv:ManualMappingCuration 2024-05-19 MONDO:0009852 hereditary intrinsic factor deficiency skos:exactMatch DOID:0050734 congenital intrinsic factor deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009855 d-bifunctional protein deficiency skos:exactMatch DOID:0090031 D-bifunctional protein deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009856 Peters plus syndrome skos:exactMatch DOID:0080201 Peters plus syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009857 persistent Mullerian duct syndrome skos:exactMatch DOID:0050791 persistent Mullerian duct syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009861 phenylketonuria skos:exactMatch DOID:9281 phenylketonuria semapv:ManualMappingCuration 2023-03-17 MONDO:0009862 dihydropteridine reductase deficiency skos:exactMatch DOID:0081130 BH4-deficient hyperphenylalaninemia C semapv:ManualMappingCuration 2023-06-18 MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:exactMatch DOID:0090106 BH4-deficient hyperphenylalaninemia A semapv:ManualMappingCuration 2023-03-17 MONDO:0009867 lethal congenital glycogen storage disease of heart skos:exactMatch DOID:0090101 lethal congenital glycogen storage disease of heart semapv:ManualMappingCuration 2023-03-17 MONDO:0009868 glycogen storage disease IXb skos:exactMatch DOID:0111041 glycogen storage disease IXB semapv:ManualMappingCuration 2023-03-17 MONDO:0009872 Bjornstad syndrome skos:exactMatch DOID:0050677 Bjornstad syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009876 isolated growth hormone deficiency type IA skos:exactMatch DOID:0060873 isolated growth hormone deficiency type IA semapv:ManualMappingCuration 2023-03-17 MONDO:0009877 Laron syndrome skos:exactMatch DOID:9521 Laron syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:exactMatch DOID:0060601 alpha-2-plasmin inhibitor deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009885 Scott syndrome skos:exactMatch DOID:0111052 Scott syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch DOID:0110861 autosomal recessive polycystic kidney disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009892 Chuvash polycythemia skos:exactMatch DOID:0060474 familial erythrocytosis 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly semapv:ManualMappingCuration 2023-03-17 MONDO:0009902 cutaneous porphyria skos:exactMatch DOID:13271 cutaneous porphyria semapv:ManualMappingCuration 2023-03-17 MONDO:0009903 postaxial acrofacial dysostosis skos:exactMatch DOID:0111259 postaxial acrofacial dysostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0009904 Gitelman syndrome skos:exactMatch DOID:0050450 Gitelman syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:exactMatch DOID:0081131 BH4-deficient hyperphenylalaninemia D semapv:ManualMappingCuration 2023-06-18 MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch DOID:0081333 Wiedemann-Rautenstrauch syndrome semapv:ManualMappingCuration 2023-05-21 MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:ManualMappingCuration 2023-04-17 MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:exactMatch DOID:0050797 peroxisomal acyl-CoA oxidase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:exactMatch DOID:2738 pseudoxanthoma elasticum semapv:ManualMappingCuration 2023-03-17 MONDO:0009928 pulmonary alveolar microlithiasis skos:exactMatch DOID:12117 pulmonary alveolar microlithiasis semapv:ManualMappingCuration 2023-03-17 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:exactMatch DOID:13042 persistent fetal circulation syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch DOID:5453 pulmonary venoocclusive disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009940 pycnodysostosis skos:exactMatch DOID:0080038 pycnodysostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0009943 Pyle disease skos:exactMatch DOID:0080019 metaphyseal dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch DOID:0080768 pyridoxine-dependent epilepsy semapv:ManualMappingCuration 2023-03-17 MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:exactMatch DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria semapv:ManualMappingCuration 2023-06-18 MONDO:0009950 pyruvate kinase deficiency of red cells skos:exactMatch DOID:0111077 pyruvate kinase deficiency of red cells semapv:ManualMappingCuration 2023-03-17 MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch DOID:0070255 congenital disorder of glycosylation type IIc semapv:ManualMappingCuration 2023-03-17 MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch DOID:0080492 leukocyte adhesion deficiency 2 semapv:ManualMappingCuration 2023-04-17 MONDO:0009955 rapadilino syndrome skos:exactMatch DOID:0050774 rapadilino syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009958 adult Refsum disease skos:exactMatch DOID:10582 Refsum disease semapv:ManualMappingCuration 2023-03-17 MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch DOID:0081241 peroxisome biogenesis disorder 3B semapv:ManualMappingCuration 2023-05-21 MONDO:0009960 inflammatory bowel disease 1 skos:exactMatch DOID:0110892 inflammatory bowel disease 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:exactMatch DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly semapv:ManualMappingCuration 2023-03-17 MONDO:0009965 Perlman syndrome skos:exactMatch DOID:0060476 Perlman syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009966 NPHP3-related Meckel-like syndrome skos:exactMatch DOID:0070121 Meckel syndrome 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0009973 reticular dysgenesis skos:exactMatch DOID:0060020 reticular dysgenesis semapv:ManualMappingCuration 2023-03-17 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch DOID:0110921 familial hemophagocytic lymphohistiocytosis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0009990 Revesz syndrome skos:exactMatch DOID:0070026 Revesz syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0009999 autosomal recessive Robinow syndrome skos:exactMatch DOID:0060764 autosomal recessive Robinow syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch DOID:2732 Rothmund-Thomson syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010004 EEC syndrome skos:exactMatch DOID:0060782 EEC syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010006 Sandhoff disease skos:exactMatch DOID:3323 Sandhoff disease semapv:ManualMappingCuration 2023-03-17 MONDO:0010008 sarcosinemia skos:exactMatch DOID:0112307 sarcosinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0010010 Schinzel-Giedion syndrome skos:exactMatch DOID:0070509 Schinzel Giedion syndrome semapv:ManualMappingCuration 2024-04-21 MONDO:0010013 schneckenbecken dysplasia skos:exactMatch DOID:0050775 schneckenbecken dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0010015 anterior segment dysgenesis 7 skos:exactMatch DOID:0080612 anterior segment dysgenesis 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0010016 sclerosteosis 1 skos:exactMatch DOID:0060756 sclerosteosis 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0010017 sea-blue histiocyte syndrome skos:exactMatch DOID:4423 sea-blue histiocytosis semapv:ManualMappingCuration 2023-03-17 MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch DOID:0111136 congenital generalized lipodystrophy type 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch DOID:0111943 immunodeficiency 48 semapv:ManualMappingCuration 2023-04-17 MONDO:0010024 Beemer-Langer syndrome skos:exactMatch DOID:9249 Beemer-Langer syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010026 SHORT syndrome skos:exactMatch DOID:0111454 SHORT syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010028 sialuria skos:exactMatch DOID:3659 sialuria semapv:ManualMappingCuration 2023-03-17 MONDO:0010029 situs inversus skos:exactMatch DOID:758 situs inversus semapv:ManualMappingCuration 2023-03-17 MONDO:0010031 Sjogren-Larsson syndrome skos:exactMatch DOID:14501 Sjogren-Larsson syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010035 Smith-Lemli-Opitz syndrome skos:exactMatch DOID:14692 Smith-Lemli-Opitz syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:exactMatch DOID:0050946 Charlevoix-Saguenay spastic ataxia semapv:ManualMappingCuration 2023-03-17 MONDO:0010043 hereditary spastic paraplegia 17 skos:exactMatch DOID:0110770 hereditary spastic paraplegia 17 semapv:ManualMappingCuration 2023-03-17 MONDO:0010044 hereditary spastic paraplegia 15 skos:exactMatch DOID:0110768 hereditary spastic paraplegia 15 semapv:ManualMappingCuration 2023-03-17 MONDO:0010046 hereditary spastic paraplegia 23 skos:exactMatch DOID:0110774 hereditary spastic paraplegia 23 semapv:ManualMappingCuration 2023-03-17 MONDO:0010047 hereditary spastic paraplegia 5A skos:exactMatch DOID:0110810 hereditary spastic paraplegia 5A semapv:ManualMappingCuration 2023-03-17 MONDO:0010053 hereditary spherocytosis type 3 skos:exactMatch DOID:0110918 hereditary spherocytosis type 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0010056 spinal muscular atrophy, type IV skos:exactMatch DOID:0050529 adult spinal muscular atrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch DOID:0080126 mitochondrial DNA depletion syndrome 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:exactMatch DOID:0111612 autosomal recessive spinocerebellar ataxia 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:exactMatch DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type semapv:ManualMappingCuration 2023-03-17 MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda semapv:ManualMappingCuration 2024-04-21 MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:exactMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:ManualMappingCuration 2023-06-18 MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:exactMatch DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:ManualMappingCuration 2023-04-17 MONDO:0010078 spondyloperipheral dysplasia skos:exactMatch DOID:0112195 spondyloperipheral dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0010079 Canavan disease skos:exactMatch DOID:3613 Canavan disease semapv:ManualMappingCuration 2023-03-17 MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:exactMatch DOID:0060175 succinic semialdehyde dehydrogenase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0010088 mucosulfatidosis skos:exactMatch DOID:0050441 mucosulfatidosis semapv:ManualMappingCuration 2023-03-17 MONDO:0010089 isolated sulfite oxidase deficiency skos:exactMatch DOID:0111270 isolated sulfite oxidase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0010091 Cold-induced sweating syndrome 1 skos:exactMatch DOID:0080329 cold-induced sweating syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010092 Filippi syndrome skos:exactMatch DOID:0112194 Filippi syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:exactMatch DOID:0090116 spondylocarpotarsal synostosis syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010099 Tay-Sachs disease AB variant skos:exactMatch DOID:4795 GM2 Gangliosidosis, AB variant semapv:ManualMappingCuration 2023-03-17 MONDO:0010100 Tay-Sachs disease skos:exactMatch DOID:3320 Tay-Sachs disease semapv:ManualMappingCuration 2023-03-17 MONDO:0010110 tetraamelia-multiple malformations syndrome skos:exactMatch DOID:0112191 tetraamelia syndrome semapv:ManualMappingCuration 2023-04-17 MONDO:0010121 thrombocytopenia-absent radius syndrome skos:exactMatch DOID:14699 thrombocytopenia-absent radius syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch DOID:14218 dihydropyrimidine dehydrogenase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0010132 familial thyroid dyshormonogenesis skos:exactMatch DOID:0112183 familial thyroid dyshormonogenesis semapv:ManualMappingCuration 2023-03-17 MONDO:0010134 Pendred syndrome skos:exactMatch DOID:0060744 Pendred syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:exactMatch DOID:0070123 congenital nongoitrous hypothyroidism 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:exactMatch DOID:0070126 congenital nongoitrous hypothyroidism 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010149 transcobalamin II deficiency skos:exactMatch DOID:0050818 transcobalamin II deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:exactMatch DOID:0111271 Oliver-McFarlane syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010156 Troyer syndrome skos:exactMatch DOID:0050886 Troyer syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010160 tyrosinemia type II skos:exactMatch DOID:0050725 tyrosinemia type II semapv:ManualMappingCuration 2023-03-17 MONDO:0010161 tyrosinemia type I skos:exactMatch DOID:0050726 tyrosinemia type I semapv:ManualMappingCuration 2023-03-17 MONDO:0010162 tyrosinemia type III skos:exactMatch DOID:0050727 tyrosinemia type III semapv:ManualMappingCuration 2023-03-17 MONDO:0010164 phocomelia, Schinzel type skos:exactMatch DOID:0112181 Schinzel type phocomelia semapv:ManualMappingCuration 2023-04-17 MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:ManualMappingCuration 2023-04-17 MONDO:0010168 Usher syndrome type 1 skos:exactMatch DOID:0110826 Usher syndrome type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010169 Usher syndrome type 2A skos:exactMatch DOID:0110838 Usher syndrome type 2A semapv:ManualMappingCuration 2023-03-17 MONDO:0010170 Usher syndrome type 3A skos:exactMatch DOID:0110841 Usher syndrome type 3A semapv:ManualMappingCuration 2023-11-19 MONDO:0010171 Usher syndrome type 1C skos:exactMatch DOID:0110830 Usher syndrome type 1C semapv:ManualMappingCuration 2023-03-17 MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:exactMatch DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010176 orofaciodigital syndrome type 6 skos:exactMatch DOID:0060376 Joubert syndrome with orofaciodigital defect semapv:ManualMappingCuration 2023-03-17 MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:exactMatch DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens semapv:ManualMappingCuration 2023-06-18 MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:exactMatch DOID:0050717 methylmalonic aciduria and homocystinuria type cblF semapv:ManualMappingCuration 2023-03-17 MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:exactMatch DOID:0050715 methylmalonic aciduria and homocystinuria type cblC semapv:ManualMappingCuration 2023-03-17 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:exactMatch DOID:0050716 methylmalonic aciduria and homocystinuria type cblD semapv:ManualMappingCuration 2023-03-17 MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:exactMatch DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 semapv:ManualMappingCuration 2023-06-18 MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch DOID:0090028 familial isolated deficiency of vitamin E semapv:ManualMappingCuration 2023-03-17 MONDO:0010190 pontocerebellar hypoplasia type 2A skos:exactMatch DOID:0060267 pontocerebellar hypoplasia type 2A semapv:ManualMappingCuration 2024-04-21 MONDO:0010191 von Willebrand disease 3 skos:exactMatch DOID:0111054 von Willebrand's disease 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0010192 Waardenburg syndrome type 4A skos:exactMatch DOID:0110953 Waardenburg syndrome type 4A semapv:ManualMappingCuration 2024-04-21 MONDO:0010193 Weaver syndrome skos:exactMatch DOID:14731 Weaver syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010196 Werner syndrome skos:exactMatch DOID:5688 Werner syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010200 Wilson disease skos:exactMatch DOID:893 Wilson disease semapv:ManualMappingCuration 2023-03-17 MONDO:0010208 wrinkly skin syndrome skos:exactMatch DOID:0112171 wrinkly skin syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010209 xanthinuria type I skos:exactMatch DOID:0070452 xanthinuria type I semapv:ManualMappingCuration 2024-04-21 MONDO:0010210 xeroderma pigmentosum group A skos:exactMatch DOID:0110843 xeroderma pigmentosum group A semapv:ManualMappingCuration 2023-03-17 MONDO:0010211 xeroderma pigmentosum group C skos:exactMatch DOID:0110844 xeroderma pigmentosum group C semapv:ManualMappingCuration 2023-03-17 MONDO:0010212 xeroderma pigmentosum group D skos:exactMatch DOID:0110845 xeroderma pigmentosum group D semapv:ManualMappingCuration 2023-03-17 MONDO:0010213 xeroderma pigmentosum group E skos:exactMatch DOID:0110846 xeroderma pigmentosum group E semapv:ManualMappingCuration 2023-03-17 MONDO:0010214 xeroderma pigmentosum variant type skos:exactMatch DOID:0110847 xeroderma pigmentosum variant type semapv:ManualMappingCuration 2023-03-17 MONDO:0010215 xeroderma pigmentosum group F skos:exactMatch DOID:0110848 xeroderma pigmentosum group F semapv:ManualMappingCuration 2023-03-17 MONDO:0010216 xeroderma pigmentosum group G skos:exactMatch DOID:0110849 xeroderma pigmentosum group G semapv:ManualMappingCuration 2023-03-17 MONDO:0010217 de Sanctis-Cacchione syndrome skos:exactMatch DOID:0112158 De Sanctis-Cacchione syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010221 CHIME syndrome skos:exactMatch DOID:0112152 CHIME syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:exactMatch DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010225 Dent disease type 1 skos:exactMatch DOID:0081453 Dent disease 1 semapv:ManualMappingCuration 2024-07-21 MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:exactMatch DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:exactMatch DOID:0112239 X-linked lissencephaly 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0010241 congenital stationary night blindness 2A skos:exactMatch DOID:0110871 congenital stationary night blindness 2A semapv:ManualMappingCuration 2024-04-21 MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:exactMatch DOID:0060848 developmental and epileptic encephalopathy 9 semapv:ManualMappingCuration 2023-03-17 MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:exactMatch DOID:0112150 X-linked spondyloepimetaphyseal dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0010256 intellectual disability, X-linked 21 skos:exactMatch DOID:0112022 non-syndromic X-linked intellectual disability 21 semapv:ManualMappingCuration 2023-06-18 MONDO:0010258 MEHMO syndrome skos:exactMatch DOID:0060801 MEHMO syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:ManualMappingCuration 2023-04-17 MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:exactMatch DOID:0111860 AMME complex semapv:ManualMappingCuration 2023-04-17 MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch DOID:0080156 X-linked adrenal hypoplasia congenita semapv:ManualMappingCuration 2023-03-17 MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:exactMatch DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0010266 intellectual disability, X-linked 58 skos:exactMatch DOID:0112024 non-syndromic X-linked intellectual disability 58 semapv:ManualMappingCuration 2023-06-18 MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:ManualMappingCuration 2023-04-17 MONDO:0010269 Coats disease skos:exactMatch DOID:7765 Coats disease semapv:ManualMappingCuration 2023-03-17 MONDO:0010270 syndromic X-linked intellectual disability 7 skos:exactMatch DOID:0060808 syndromic X-linked intellectual disability 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:exactMatch DOID:0060826 syndromic X-linked intellectual disability Shashi type semapv:ManualMappingCuration 2023-03-17 MONDO:0010278 Christianson syndrome skos:exactMatch DOID:0060825 Christianson syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:exactMatch DOID:0112149 terminal osseous dysplasia semapv:ManualMappingCuration 2023-04-17 MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:exactMatch DOID:0060799 syndromic X-linked intellectual disability Lubs type semapv:ManualMappingCuration 2023-03-17 MONDO:0010284 Armfield syndrome skos:exactMatch DOID:0050764 Armfield syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:exactMatch DOID:0060818 syndromic X-linked intellectual disability Abidi type semapv:ManualMappingCuration 2023-03-17 MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:exactMatch DOID:0060812 syndromic X-linked intellectual disability Siderius type semapv:ManualMappingCuration 2023-03-17 MONDO:0010287 hereditary spastic paraplegia 16 skos:exactMatch DOID:0110769 hereditary spastic paraplegia 16 semapv:ManualMappingCuration 2023-03-17 MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:exactMatch DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch DOID:0081077 ectodermal dysplasia and immune deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0010294 X-linked severe congenital neutropenia skos:exactMatch DOID:0112128 X-linked severe congenital neutropenia semapv:ManualMappingCuration 2023-03-17 MONDO:0010298 Lesch-Nyhan syndrome skos:exactMatch DOID:1919 Lesch-Nyhan syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:ManualMappingCuration 2023-04-17 MONDO:0010302 Ito hypomelanosis skos:exactMatch DOID:3156 hypomelanosis of Ito semapv:ManualMappingCuration 2023-03-17 MONDO:0010305 creatine transporter deficiency skos:exactMatch DOID:0050800 cerebral creatine deficiency syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010306 X-linked intellectual disability, Cabezas type skos:exactMatch DOID:0060822 syndromic X-linked intellectual disability Cabezas type semapv:ManualMappingCuration 2023-03-17 MONDO:0010310 osteopathia striata with cranial sclerosis skos:exactMatch DOID:0060886 osteopathia striata with cranial sclerosis semapv:ManualMappingCuration 2023-03-17 MONDO:0010311 Becker muscular dystrophy skos:exactMatch DOID:9883 Becker muscular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:exactMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:ManualMappingCuration 2023-06-18 MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:exactMatch DOID:0060806 syndromic X-linked intellectual disability Hedera type semapv:ManualMappingCuration 2023-03-17 MONDO:0010320 retinitis pigmentosa 23 skos:exactMatch DOID:0110412 retinitis pigmentosa 23 semapv:ManualMappingCuration 2024-04-21 MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:exactMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:ManualMappingCuration 2023-06-18 MONDO:0010327 HSD10 mitochondrial disease skos:exactMatch DOID:0060810 syndromic X-linked intellectual disability type 10 semapv:ManualMappingCuration 2023-03-17 MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:exactMatch DOID:0112125 alpha-thalassemia myelodysplasia syndrome semapv:ManualMappingCuration 2023-04-17 MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:exactMatch DOID:0060816 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:exactMatch DOID:0112123 deafness, dystonia, and cerebral hypomyelination semapv:ManualMappingCuration 2023-04-17 MONDO:0010335 X-linked cone-rod dystrophy 3 skos:exactMatch DOID:0111007 X-linked cone-rod dystrophy 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0010336 orofaciodigital syndrome VIII skos:exactMatch DOID:0060378 orofaciodigital syndrome VIII semapv:ManualMappingCuration 2023-03-17 MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:exactMatch DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance semapv:ManualMappingCuration 2023-03-17 MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:exactMatch DOID:0111196 X-linked distal spinal muscular atrophy 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:exactMatch DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders semapv:ManualMappingCuration 2023-04-17 MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:exactMatch DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010354 Allan-Herndon-Dudley syndrome skos:exactMatch DOID:0050631 Allan-Herndon-Dudley syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:exactMatch DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type semapv:ManualMappingCuration 2023-03-17 MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:exactMatch DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis semapv:ManualMappingCuration 2023-03-17 MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:exactMatch DOID:0080353 X-linked recessive hypophosphatemic rickets semapv:ManualMappingCuration 2024-04-21 MONDO:0010359 Dent disease type 2 skos:exactMatch DOID:0081454 Dent disease 2 semapv:ManualMappingCuration 2024-07-21 MONDO:0010362 glycogen storage disease IXd skos:exactMatch DOID:0111040 glycogen storage disease IXD semapv:ManualMappingCuration 2023-03-17 MONDO:0010367 SHOX-related short stature skos:exactMatch DOID:0112120 SHOX-related short stature semapv:ManualMappingCuration 2023-03-17 MONDO:0010371 Aland island eye disease skos:exactMatch DOID:0050630 Aland Island eye disease semapv:ManualMappingCuration 2023-03-17 MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:exactMatch DOID:0080215 developmental and epileptic encephalopathy 8 semapv:ManualMappingCuration 2023-03-17 MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch DOID:0111741 X-linked deafness 5 semapv:ManualMappingCuration 2023-04-17 MONDO:0010379 Brunner syndrome skos:exactMatch DOID:0060693 Brunner syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:exactMatch DOID:0050879 fragile X-associated tremor/ataxia syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010383 fragile X syndrome skos:exactMatch DOID:14261 fragile X syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010386 immunodeficiency 33 skos:exactMatch DOID:0112003 immunodeficiency 33 semapv:ManualMappingCuration 2023-03-17 MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:ManualMappingCuration 2023-04-17 MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:ManualMappingCuration 2023-04-17 MONDO:0010393 intellectual disability, X-linked 93 skos:exactMatch DOID:0112045 non-syndromic X-linked intellectual disability 93 semapv:ManualMappingCuration 2023-06-18 MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:exactMatch DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity semapv:ManualMappingCuration 2023-03-17 MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:exactMatch DOID:0080467 developmental and epileptic encephalopathy 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:ManualMappingCuration 2023-04-17 MONDO:0010399 chromosome Xp21 deletion syndrome skos:exactMatch DOID:0060427 chromosome Xp21 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:exactMatch DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0010402 syndromic X-linked intellectual disability 94 skos:exactMatch DOID:0060823 syndromic X-linked intellectual disability 94 semapv:ManualMappingCuration 2023-11-19 MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:ManualMappingCuration 2023-04-17 MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:exactMatch DOID:0112037 chromosome Xp11.22 duplication syndrome semapv:ManualMappingCuration 2023-11-19 MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:exactMatch DOID:0060811 syndromic X-linked intellectual disability Turner type semapv:ManualMappingCuration 2023-03-17 MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:exactMatch DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:exactMatch DOID:0060813 syndromic X-linked intellectual disability Shrimpton type semapv:ManualMappingCuration 2023-03-17 MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:exactMatch DOID:0060807 syndromic X-linked intellectual disability Najm type semapv:ManualMappingCuration 2023-03-17 MONDO:0010418 hereditary spastic paraplegia 34 skos:exactMatch DOID:0110785 hereditary spastic paraplegia 34 semapv:ManualMappingCuration 2023-03-17 MONDO:0010421 Bruton-type agammaglobulinemia skos:exactMatch DOID:14179 X-linked agammaglobulinemia semapv:ManualMappingCuration 2023-03-17 MONDO:0010425 Lisch epithelial corneal dystrophy skos:exactMatch DOID:0060450 Lisch epithelial corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0010426 X-linked endothelial corneal dystrophy skos:exactMatch DOID:0060446 X-linked endothelial corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:exactMatch DOID:0060824 syndromic X-linked intellectual disability Raymond type semapv:ManualMappingCuration 2023-03-17 MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:exactMatch DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010431 Joubert syndrome 10 skos:exactMatch DOID:0110981 Joubert syndrome 10 semapv:ManualMappingCuration 2024-04-21 MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:exactMatch DOID:0111899 X-linked thrombophilia due to factor IX defect semapv:ManualMappingCuration 2023-04-17 MONDO:0010435 nystagmus 6, congenital, X-linked skos:exactMatch DOID:0111795 congenital nystagmus 6 semapv:ManualMappingCuration 2023-06-18 MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:exactMatch DOID:0111502 combined oxidative phosphorylation deficiency 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0010441 CK syndrome skos:exactMatch DOID:0111898 CK syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:exactMatch DOID:0112156 X-linked dyserythropoietic anemia semapv:ManualMappingCuration 2023-04-17 MONDO:0010447 intellectual disability, X-linked 19 skos:exactMatch DOID:0112019 non-syndromic X-linked intellectual disability 19 semapv:ManualMappingCuration 2024-04-21 MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia skos:exactMatch DOID:0080319 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0010457 Ogden syndrome skos:exactMatch DOID:0050781 Ogden syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:exactMatch DOID:0060206 amyotrophic lateral sclerosis type 15 semapv:ManualMappingCuration 2023-03-17 MONDO:0010460 syndromic X-linked intellectual disability 17 skos:exactMatch DOID:0060803 syndromic X-linked intellectual disability 17 semapv:ManualMappingCuration 2023-03-17 MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:exactMatch DOID:0060820 syndromic X-linked intellectual disability Nascimento type semapv:ManualMappingCuration 2023-03-17 MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:exactMatch DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:ManualMappingCuration 2023-04-17 MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:exactMatch DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch DOID:0080470 developmental and epileptic encephalopathy 36 semapv:ManualMappingCuration 2023-03-17 MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:exactMatch DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:exactMatch DOID:0111140 IGSF1 deficiency syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:exactMatch DOID:0110739 neurodegeneration with brain iron accumulation 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:exactMatch DOID:0070265 congenital disorder of glycosylation type IIm semapv:ManualMappingCuration 2023-03-17 MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:exactMatch DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:exactMatch DOID:0112105 X-linked parkinsonism-spasticity syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:exactMatch DOID:0112044 non-syndromic X-linked intellectual disability 98 semapv:ManualMappingCuration 2023-06-18 MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch DOID:0111811 syndromic microphthalmia 13 semapv:ManualMappingCuration 2023-11-19 MONDO:0010487 intellectual disability, X-linked 99 skos:exactMatch DOID:0112026 non-syndromic X-linked intellectual disability 99 semapv:ManualMappingCuration 2024-04-21 MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch DOID:0080574 congenital disorder of glycosylation Iy semapv:ManualMappingCuration 2023-04-17 MONDO:0010498 MEND syndrome skos:exactMatch DOID:0111865 MEND syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010501 syndromic X-linked intellectual disability 34 skos:exactMatch DOID:0060817 syndromic X-linked intellectual disability 34 semapv:ManualMappingCuration 2023-11-19 MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:exactMatch DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 semapv:ManualMappingCuration 2023-11-19 MONDO:0010504 immunodeficiency 47 skos:exactMatch DOID:0112002 immunodeficiency 47 semapv:ManualMappingCuration 2023-03-17 MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:exactMatch DOID:0070538 syndromic X-linked intellectual developmental disorder Bain type semapv:ManualMappingCuration 2024-04-21 MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:ManualMappingCuration 2023-11-19 MONDO:0010518 Wiskott-Aldrich syndrome skos:exactMatch DOID:9169 Wiskott-Aldrich syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:exactMatch DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010520 X-linked Alport syndrome skos:exactMatch DOID:0110034 X-linked Alport syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010523 X-linked reticulate pigmentary disorder skos:exactMatch DOID:0111834 X-linked reticulate pigmentary disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:exactMatch DOID:0050554 X-linked sideroblastic anemia with ataxia semapv:ManualMappingCuration 2023-03-17 MONDO:0010526 Fabry disease skos:exactMatch DOID:14499 Fabry disease semapv:ManualMappingCuration 2023-03-17 MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:ManualMappingCuration 2023-04-17 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:exactMatch DOID:0111827 X-linked spinal muscular atrophy 2 semapv:ManualMappingCuration 2023-04-17 MONDO:0010533 Arts syndrome skos:exactMatch DOID:0050647 Arts syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:ManualMappingCuration 2023-04-17 MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:exactMatch DOID:0050681 Borjeson-Forssman-Lehmann syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010538 Mononen-Karnes-Senac syndrome skos:exactMatch DOID:0110973 Mononen-Karnes-Senac syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch DOID:0081164 dilated cardiomyopathy 3B semapv:ManualMappingCuration 2024-02-18 MONDO:0010542 dilated cardiomyopathy 3B skos:exactMatch DOID:0110461 X-linked dilated cardiomyopathy semapv:ManualMappingCuration 2024-02-18 MONDO:0010543 Barth syndrome skos:exactMatch DOID:0050476 Barth syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010544 cataract 40 skos:exactMatch DOID:0110272 cataract 40 semapv:ManualMappingCuration 2024-04-21 MONDO:0010545 Nance-Horan syndrome skos:exactMatch DOID:0060599 Nance-Horan syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch DOID:0111829 X-linked spinocerebellar ataxia 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:exactMatch DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:exactMatch DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:exactMatch DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0010554 Abruzzo-Erickson syndrome skos:exactMatch DOID:0111826 Abruzzo-Erickson syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010556 X-linked chondrodysplasia punctata skos:exactMatch DOID:0060292 X-linked chondrodysplasia punctata 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010557 choroideremia skos:exactMatch DOID:9821 Choroideremia semapv:ManualMappingCuration 2023-03-17 MONDO:0010559 MASA syndrome skos:exactMatch DOID:0060246 MASA syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:exactMatch DOID:0060613 X-linked cleft palate with or without ankyloglossia semapv:ManualMappingCuration 2023-03-17 MONDO:0010561 Coffin-Lowry syndrome skos:exactMatch DOID:3783 Coffin-Lowry syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010563 blue cone monochromacy skos:exactMatch DOID:0050679 blue cone monochromacy semapv:ManualMappingCuration 2023-03-17 MONDO:0010566 X-linked cone-rod dystrophy 1 skos:exactMatch DOID:0111008 X-linked cone-rod dystrophy 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0010568 Aicardi syndrome skos:exactMatch DOID:8461 Aicardi syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010570 craniofrontonasal syndrome skos:exactMatch DOID:14737 craniofrontonasal syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010571 otopalatodigital syndrome type 2 skos:exactMatch DOID:0111784 otopalatodigital syndrome type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0010572 occipital horn syndrome skos:exactMatch DOID:0111272 occipital horn syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010574 syndromic X-linked intellectual disability 5 skos:exactMatch DOID:0060800 syndromic X-linked intellectual disability 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:ManualMappingCuration 2023-04-17 MONDO:0010578 deafness dystonia syndrome skos:exactMatch DOID:0050757 deafness-dystonia-optic neuronopathy syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:exactMatch DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010584 dyskeratosis congenita, X-linked skos:exactMatch DOID:0070025 X-linked dyskeratosis congenita semapv:ManualMappingCuration 2023-03-17 MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:exactMatch DOID:0111413 X-linked exudative vitreoretinopathy 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:exactMatch DOID:6683 X-linked Aarskog syndrome semapv:ManualMappingCuration 2023-04-17 MONDO:0010592 focal dermal hypoplasia skos:exactMatch DOID:2120 focal dermal hypoplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch DOID:0111042 glycogen storage disease IXA semapv:ManualMappingCuration 2023-11-19 MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch DOID:2751 glycogen storage disease VIII semapv:ManualMappingCuration 2023-11-19 MONDO:0010602 hemophilia A skos:exactMatch DOID:12134 factor VIII deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0010604 hemophilia B skos:exactMatch DOID:12259 hemophilia B semapv:ManualMappingCuration 2023-03-17 MONDO:0010613 inborn glycerol kinase deficiency skos:exactMatch DOID:0060363 glycerol kinase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0010615 isolated growth hormone deficiency type III skos:exactMatch DOID:0060875 isolated growth hormone deficiency type III semapv:ManualMappingCuration 2023-03-17 MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:exactMatch DOID:0111388 X-linked hypoparathyroidism semapv:ManualMappingCuration 2023-04-17 MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:exactMatch DOID:0050445 X-linked dominant hypophosphatemic rickets semapv:ManualMappingCuration 2023-03-17 MONDO:0010621 CHILD syndrome skos:exactMatch DOID:0111822 CHILD syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010622 recessive X-linked ichthyosis skos:exactMatch DOID:1700 X-linked ichthyosis semapv:ManualMappingCuration 2023-03-17 MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch DOID:0060022 CD40 ligand deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch DOID:6620 X-linked hyper IgM syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch DOID:0060705 X-linked lymphoproliferative syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010631 incontinentia pigmenti skos:exactMatch DOID:12305 Bloch-Sulzberger syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:exactMatch DOID:0080468 developmental and epileptic encephalopathy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia semapv:ManualMappingCuration 2023-03-17 MONDO:0010645 oculocerebrorenal syndrome skos:exactMatch DOID:1056 oculocerebrorenal syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010647 spermatogenic failure, X-linked, 2 skos:exactMatch DOID:0070185 X-linked spermatogenic failure 2 semapv:ManualMappingCuration 2024-02-18 MONDO:0010650 Melnick-Needles syndrome skos:exactMatch DOID:0111788 Melnick-Needles syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010651 Menkes disease skos:exactMatch DOID:1838 Menkes disease semapv:ManualMappingCuration 2023-03-17 MONDO:0010653 Renpenning syndrome skos:exactMatch DOID:0060179 Renpenning syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010654 Partington syndrome skos:exactMatch DOID:14744 Partington syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:exactMatch DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type semapv:ManualMappingCuration 2023-06-18 MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:exactMatch DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type semapv:ManualMappingCuration 2023-04-17 MONDO:0010658 syndromic X-linked intellectual disability 12 skos:exactMatch DOID:0060804 syndromic X-linked intellectual disability 12 semapv:ManualMappingCuration 2023-03-17 MONDO:0010659 FRAXE intellectual disability skos:exactMatch DOID:0080984 X-linked intellectual developmental disorder 109 semapv:ManualMappingCuration 2023-06-18 MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:exactMatch DOID:0081123 X-linked mental retardation Gustavson type semapv:ManualMappingCuration 2023-06-18 MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:exactMatch DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 semapv:ManualMappingCuration 2023-06-18 MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:exactMatch DOID:0060802 syndromic X-linked intellectual disability Snyder type semapv:ManualMappingCuration 2023-03-17 MONDO:0010665 Wilson-Turner syndrome skos:exactMatch DOID:0060814 Wilson-Turner syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010667 Prieto syndrome skos:exactMatch DOID:0060805 Prieto syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010669 syndactyly type 8 skos:exactMatch DOID:0111813 syndactyly type 8 semapv:ManualMappingCuration 2023-03-17 MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch DOID:0111875 MLS syndrome semapv:ManualMappingCuration 2023-04-17 MONDO:0010674 mucopolysaccharidosis type 2 skos:exactMatch DOID:12799 mucopolysaccharidosis II semapv:ManualMappingCuration 2023-03-17 MONDO:0010679 Duchenne muscular dystrophy skos:exactMatch DOID:11723 Duchenne muscular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0010683 X-linked myotubular myopathy skos:exactMatch DOID:0111225 centronuclear myopathy X-linked semapv:ManualMappingCuration 2023-03-17 MONDO:0010684 X-linked myopathy with excessive autophagy skos:exactMatch DOID:0050760 X-linked myopathy with excessive autophagy semapv:ManualMappingCuration 2023-03-17 MONDO:0010686 N syndrome skos:exactMatch DOID:0050769 N syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:exactMatch DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0010691 Norrie disease skos:exactMatch DOID:0060844 Norrie disease semapv:ManualMappingCuration 2023-03-17 MONDO:0010693 nystagmus 1, congenital, X-linked skos:exactMatch DOID:0111790 congenital nystagmus 1 semapv:ManualMappingCuration 2023-11-19 MONDO:0010698 optic atrophy 2 skos:exactMatch DOID:0111443 optic atrophy 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:exactMatch DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0010702 orofaciodigital syndrome I skos:exactMatch DOID:0060316 orofaciodigital syndrome I semapv:ManualMappingCuration 2023-03-17 MONDO:0010704 otopalatodigital syndrome type 1 skos:exactMatch DOID:0111783 otopalatodigital syndrome type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010706 premature ovarian failure 1 skos:exactMatch DOID:0080857 primary ovarian insufficiency 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch DOID:0111781 Waisman syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010711 TARP syndrome skos:exactMatch DOID:0111780 TARP syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010713 properdin deficiency, X-linked skos:exactMatch DOID:0111768 X-linked properdin deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder skos:exactMatch DOID:3210 Pelizaeus-Merzbacher disease semapv:ManualMappingCuration 2023-03-17 MONDO:0010720 partial androgen insensitivity syndrome skos:exactMatch DOID:0080776 partial androgen insensitivity syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010725 X-linked retinoschisis skos:exactMatch DOID:0060763 X-linked juvenile retinoschisis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010726 Rett syndrome skos:exactMatch DOID:1206 Rett syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch DOID:0081100 spastic paraplegia with deafness semapv:ManualMappingCuration 2023-04-17 MONDO:0010733 hereditary spastic paraplegia 2 skos:exactMatch DOID:0110773 hereditary spastic paraplegia 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0010735 Kennedy disease skos:exactMatch DOID:0060161 Kennedy's disease semapv:ManualMappingCuration 2023-03-17 MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:exactMatch DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda semapv:ManualMappingCuration 2023-11-19 MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:exactMatch DOID:0111767 X-linked thrombocytopenia with beta-thalassemia semapv:ManualMappingCuration 2023-03-17 MONDO:0010747 X-linked dystonia-parkinsonism skos:exactMatch DOID:0090057 X-linked dystonia-parkinsonism semapv:ManualMappingCuration 2023-03-17 MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:exactMatch DOID:0111766 X-linked VACTERL association semapv:ManualMappingCuration 2023-03-17 MONDO:0010753 cardiac valvular dysplasia, X-linked skos:exactMatch DOID:0111765 X-linked cardiac valvular dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch DOID:0060815 Miles-Carpenter syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010765 46,XY complete gonadal dysgenesis skos:exactMatch DOID:14448 46,XY sex reversal semapv:ManualMappingCuration 2023-03-17 MONDO:0010768 gonadoblastoma skos:exactMatch DOID:3301 gonadoblastoma semapv:ManualMappingCuration 2024-04-21 MONDO:0010771 histiocytoid cardiomyopathy skos:exactMatch DOID:0080198 infantile histiocytoid cardiomyopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:exactMatch DOID:0111751 mitochondrial nonsyndromic sensorineural deafness semapv:ManualMappingCuration 2023-03-17 MONDO:0010787 Kearns-Sayre syndrome skos:exactMatch DOID:12934 Kearns-Sayre syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010788 Leber hereditary optic neuropathy skos:exactMatch DOID:705 Leber hereditary optic neuropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0010789 MELAS syndrome skos:exactMatch DOID:3687 MELAS syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010790 MERRF syndrome skos:exactMatch DOID:310 MERRF Syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010794 NARP syndrome skos:exactMatch DOID:0111273 NARP syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010797 Pearson syndrome skos:exactMatch DOID:0060067 Pearson syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010799 deafness, aminoglycoside-induced skos:exactMatch DOID:0111734 aminoglycoside-induced deafness semapv:ManualMappingCuration 2023-03-17 MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:exactMatch DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010803 Eiken syndrome skos:exactMatch DOID:0111732 Eiken syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010805 bladder exstrophy skos:exactMatch DOID:0080174 bladder exstrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:exactMatch DOID:0110477 autosomal recessive nonsyndromic deafness 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0010808 fatal familial insomnia skos:exactMatch DOID:0050433 fatal familial insomnia semapv:ManualMappingCuration 2023-03-17 MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:exactMatch DOID:0060644 chondrodysplasia-pseudohermaphroditism syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010816 Qazi Markouizos syndrome skos:exactMatch DOID:0050740 Qazi Markouizos syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:exactMatch DOID:0110558 autosomal dominant nonsyndromic deafness 2A semapv:ManualMappingCuration 2023-03-17 MONDO:0010818 retinitis pigmentosa 12 skos:exactMatch DOID:0110358 retinitis pigmentosa 12 semapv:ManualMappingCuration 2024-04-21 MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:exactMatch DOID:0110853 rhizomelic chondrodysplasia punctata type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0010826 childhood absence epilepsy skos:exactMatch DOID:0050708 early onset absence epilepsy semapv:ManualMappingCuration 2024-06-23 MONDO:0010826 childhood absence epilepsy skos:exactMatch DOID:1825 childhood absence epilepsy semapv:ManualMappingCuration 2023-03-17 MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:exactMatch DOID:0110723 neuronal ceroid lipofuscinosis 8 semapv:ManualMappingCuration 2023-03-17 MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 skos:exactMatch DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 semapv:ManualMappingCuration 2023-03-17 MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:exactMatch DOID:0050792 multiple cutaneous and mucosal venous malformations semapv:ManualMappingCuration 2023-03-17 MONDO:0010847 spinocerebellar ataxia type 4 skos:exactMatch DOID:0050957 spinocerebellar ataxia type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0010848 spinocerebellar ataxia type 5 skos:exactMatch DOID:0050882 spinocerebellar ataxia type 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0010850 Tessier number 4 facial cleft skos:exactMatch DOID:0111706 oblique facial clefting 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:exactMatch DOID:0111705 oculoectodermal syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010857 semantic dementia skos:exactMatch DOID:0081391 semantic dementia semapv:ManualMappingCuration 2024-04-21 MONDO:0010863 type 1 diabetes mellitus 5 skos:exactMatch DOID:0110744 type 1 diabetes mellitus 5 semapv:ManualMappingCuration 2023-11-19 MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:exactMatch DOID:0070343 CSF1R-related brain malformation and osteopetrosis semapv:ManualMappingCuration 2023-04-17 MONDO:0010870 tibial muscular dystrophy skos:exactMatch DOID:0111078 tibial muscular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:exactMatch DOID:0080067 Charcot-Marie-Tooth disease type 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0010878 hereditary spastic paraplegia 6 skos:exactMatch DOID:0110811 hereditary spastic paraplegia 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0010879 CODAS syndrome skos:exactMatch DOID:0111274 CODAS syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010886 2q37 microdeletion syndrome skos:exactMatch DOID:0111704 chromosome 2q37 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010888 adenomyosis skos:exactMatch DOID:288 endometriosis of uterus semapv:ManualMappingCuration 2023-03-17 MONDO:0010890 acrocardiofacial syndrome skos:exactMatch DOID:0070419 acrocardiofacial syndrome semapv:ManualMappingCuration 2023-07-09 MONDO:0010894 maturity-onset diabetes of the young type 3 skos:exactMatch DOID:0111102 maturity-onset diabetes of the young type 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0010895 ABCD syndrome skos:exactMatch DOID:0050600 ABCD syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010896 pigment dispersion syndrome skos:exactMatch DOID:0060680 pigment dispersion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010898 autosomal dominant epilepsy with auditory features skos:exactMatch DOID:0060748 familial temporal lobe epilepsy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0010906 orofacial cleft 11 skos:exactMatch DOID:0080404 orofacial cleft 11 semapv:ManualMappingCuration 2023-11-19 MONDO:0010907 familial hypertryptophanemia skos:exactMatch DOID:0111703 familial hypertryptophanemia semapv:ManualMappingCuration 2023-03-17 MONDO:0010908 loose anagen syndrome skos:exactMatch DOID:0111702 loose anagen hair syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:exactMatch DOID:0081017 congenital fibrosis of the extraocular muscles 3A semapv:ManualMappingCuration 2024-04-21 MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:exactMatch DOID:0110573 autosomal dominant nonsyndromic deafness 4A semapv:ManualMappingCuration 2024-04-21 MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:exactMatch DOID:0110860 polycystic kidney disease 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch DOID:0050575 D-2-hydroxyglutaric aciduria semapv:ManualMappingCuration 2023-03-17 MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:exactMatch DOID:0060702 familial hypocalciuric hypercalcemia 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:exactMatch DOID:0110498 autosomal recessive nonsyndromic deafness 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0010943 schizophrenia 4 skos:exactMatch DOID:0070080 schizophrenia 4 semapv:ManualMappingCuration 2024-04-21 MONDO:0010946 hypertrophic cardiomyopathy 6 skos:exactMatch DOID:0110312 hypertrophic cardiomyopathy 6 semapv:ManualMappingCuration 2024-04-21 MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:exactMatch DOID:0110159 Charcot-Marie-Tooth disease type 2B semapv:ManualMappingCuration 2023-03-17 MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:exactMatch DOID:0111256 hyperferritinemia-cataract syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch DOID:0111084 Fanconi anemia complementation group E semapv:ManualMappingCuration 2023-03-17 MONDO:0010959 van den Ende-Gupta syndrome skos:exactMatch DOID:0111699 Van den Ende-Gupta syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010961 obesity due to prohormone convertase I deficiency skos:exactMatch DOID:0111698 proprotein convertase 1/3 deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch DOID:0050428 nonepidermolytic palmoplantar keratoderma semapv:ManualMappingCuration 2023-11-19 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:ManualMappingCuration 2024-10-20 MONDO:0010966 achondrogenesis type IB skos:exactMatch DOID:0080055 achondrogenesis type IB semapv:ManualMappingCuration 2023-03-17 MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:exactMatch DOID:0110520 autosomal recessive nonsyndromic deafness 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:exactMatch DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity semapv:ManualMappingCuration 2023-11-19 MONDO:0010977 Brody myopathy skos:exactMatch DOID:0050692 Brody myopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0010979 Timothy syndrome skos:exactMatch DOID:0060173 Timothy syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0010983 dystonia 9 skos:exactMatch DOID:0090044 dystonia 9 semapv:ManualMappingCuration 2023-03-17 MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:exactMatch DOID:0110535 autosomal recessive nonsyndromic deafness 9 semapv:ManualMappingCuration 2023-03-17 MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:ManualMappingCuration 2023-04-17 MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:exactMatch DOID:0110151 Charcot-Marie-Tooth disease type 1C semapv:ManualMappingCuration 2023-03-17 MONDO:0010998 ALG3-congenital disorder of glycosylation skos:exactMatch DOID:0080556 congenital disorder of glycosylation Id semapv:ManualMappingCuration 2023-03-17 MONDO:0011001 Brugada syndrome 1 skos:exactMatch DOID:0110218 Brugada syndrome 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0011003 dilated cardiomyopathy 1E skos:exactMatch DOID:0110433 dilated cardiomyopathy 1E semapv:ManualMappingCuration 2024-02-18 MONDO:0011010 Matthew-Wood syndrome skos:exactMatch DOID:0111807 syndromic microphthalmia 9 semapv:ManualMappingCuration 2023-03-17 MONDO:0011012 African iron overload skos:exactMatch DOID:0111033 African iron overload semapv:ManualMappingCuration 2023-03-17 MONDO:0011013 autosomal dominant hypocalcemia 1 skos:exactMatch DOID:0090107 autosomal dominant hypocalcemia 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011017 Naxos disease skos:exactMatch DOID:0080551 Naxos disease semapv:ManualMappingCuration 2023-03-17 MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:exactMatch DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011022 Potocki-Shaffer syndrome skos:exactMatch DOID:0111687 Potocki-Shaffer syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011023 hereditary mixed polyposis syndrome skos:exactMatch DOID:0111684 hereditary mixed polyposis syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011025 Cayman type cerebellar ataxia skos:exactMatch DOID:0060694 Cayman type cerebellar ataxia semapv:ManualMappingCuration 2023-03-17 MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:exactMatch DOID:0060712 autosomal recessive congenital ichthyosis 4A semapv:ManualMappingCuration 2023-03-17 MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:exactMatch DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F semapv:ManualMappingCuration 2023-03-17 MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:exactMatch DOID:0110542 autosomal dominant nonsyndromic deafness 10 semapv:ManualMappingCuration 2024-04-21 MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:exactMatch DOID:0110543 autosomal dominant nonsyndromic deafness 11 semapv:ManualMappingCuration 2024-04-21 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:exactMatch DOID:0111683 neurofibromatosis-Noonan syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011045 MMEP syndrome skos:exactMatch DOID:0111803 syndromic microphthalmia 8 semapv:ManualMappingCuration 2023-04-17 MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:exactMatch DOID:0081441 Nicolaides-Baraitser syndrome semapv:ManualMappingCuration 2024-05-19 MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:exactMatch DOID:0110191 Charcot-Marie-Tooth disease type 4B1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011068 type 1 diabetes mellitus 12 skos:exactMatch DOID:0110751 type 1 diabetes mellitus 12 semapv:ManualMappingCuration 2023-11-19 MONDO:0011070 van Maldergem syndrome 1 skos:exactMatch DOID:0080585 Van Maldergem syndrome 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:exactMatch DOID:0110591 autosomal dominant nonsyndromic deafness 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0011076 myofibrillar myopathy 1 skos:exactMatch DOID:0080092 myofibrillar myopathy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:exactMatch DOID:0110186 Charcot-Marie-Tooth disease type 4D semapv:ManualMappingCuration 2023-03-17 MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:exactMatch DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive semapv:ManualMappingCuration 2023-03-17 MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:exactMatch DOID:0110164 Charcot-Marie-Tooth disease type 2D semapv:ManualMappingCuration 2023-03-17 MONDO:0011093 mucopolysaccharidosis type 9 skos:exactMatch DOID:0050809 mucopolysaccharidosis IX semapv:ManualMappingCuration 2023-03-17 MONDO:0011099 human HOXA1 syndromes skos:exactMatch DOID:0050682 Athabaskan brainstem dysgenesis syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011101 peroxisome biogenesis disorder 1B skos:exactMatch DOID:0081240 peroxisome biogenesis disorder 1B semapv:ManualMappingCuration 2023-03-17 MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:exactMatch DOID:0110564 autosomal dominant nonsyndromic deafness 3A semapv:ManualMappingCuration 2024-04-21 MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:exactMatch DOID:0110711 congenital hypotrichosis with juvenile macular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:exactMatch DOID:0110183 Charcot-Marie-Tooth disease type 4C semapv:ManualMappingCuration 2023-03-17 MONDO:0011119 iridogoniodysgenesis skos:exactMatch DOID:0050786 iridogoniodysgenesis syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011125 trichothiodystrophy 1, photosensitive skos:exactMatch DOID:0111873 photosensitive trichothiodystrophy 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0011128 Sheldon-hall syndrome skos:exactMatch DOID:0111599 distal arthrogryposis type 2B semapv:ManualMappingCuration 2023-03-17 MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:exactMatch DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0011136 Quebec platelet disorder skos:exactMatch DOID:0111050 Quebec platelet disorder semapv:ManualMappingCuration 2023-03-17 MONDO:0011137 retinitis pigmentosa 19 skos:exactMatch DOID:0110354 retinitis pigmentosa 19 semapv:ManualMappingCuration 2024-04-21 MONDO:0011143 cone-rod dystrophy 6 skos:exactMatch DOID:0111011 cone-rod dystrophy 6 semapv:ManualMappingCuration 2024-04-21 MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:exactMatch DOID:0110729 neuronal ceroid lipofuscinosis 6A semapv:ManualMappingCuration 2023-03-17 MONDO:0011147 chromosome 18q deletion syndrome skos:exactMatch DOID:0060407 chromosome 18q deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011152 PHGDH deficiency skos:exactMatch DOID:0050722 PHGDH deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:exactMatch DOID:0070218 familial hyperinsulinemic hypoglycemia 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011154 acrofacial dysostosis, Palagonia type skos:exactMatch DOID:0060385 acrofacial dysostosis, Patagonia type semapv:ManualMappingCuration 2023-03-17 MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:exactMatch DOID:0070222 progressive familial intrahepatic cholestasis 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:exactMatch DOID:0110545 autosomal dominant nonsyndromic deafness 13 semapv:ManualMappingCuration 2024-04-21 MONDO:0011168 type 1 diabetes mellitus 10 skos:exactMatch DOID:0110749 type 1 diabetes mellitus 10 semapv:ManualMappingCuration 2023-11-19 MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:exactMatch DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G semapv:ManualMappingCuration 2023-03-17 MONDO:0011176 intestinal hypomagnesemia 1 skos:exactMatch DOID:0060883 intestinal hypomagnesemia 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011184 childhood apraxia of speech skos:exactMatch DOID:0111275 speech-language disorder-1 semapv:ManualMappingCuration 2023-04-17 MONDO:0011185 Thiel-Behnke corneal dystrophy skos:exactMatch DOID:0060455 Thiel-Behnke corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0011190 nephronophthisis 2 skos:exactMatch DOID:0111113 nephronophthisis 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:exactMatch DOID:0110473 autosomal recessive nonsyndromic deafness 18A semapv:ManualMappingCuration 2024-04-21 MONDO:0011193 cone dystrophy 3 skos:exactMatch DOID:0080314 cone-rod dystrophy 14 semapv:ManualMappingCuration 2023-03-17 MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:exactMatch DOID:0060197 amyotrophic lateral sclerosis type 5 semapv:ManualMappingCuration 2024-04-21 MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type semapv:ManualMappingCuration 2023-03-17 MONDO:0011200 torsion dystonia 7 skos:exactMatch DOID:0090040 torsion dystonia 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0011211 axial spondylometaphyseal dysplasia skos:exactMatch DOID:0112299 axial spondylometaphyseal dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0011213 Pierpont syndrome skos:exactMatch DOID:0081362 Pierpont syndrome semapv:ManualMappingCuration 2023-07-09 MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:exactMatch DOID:0070223 progressive familial intrahepatic cholestasis 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0011216 hemochromatosis type 2A skos:exactMatch DOID:0111027 hemochromatosis type 2A semapv:ManualMappingCuration 2023-03-17 MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:exactMatch DOID:0060720 autosomal recessive congenital ichthyosis 11 semapv:ManualMappingCuration 2023-03-17 MONDO:0011219 Fried's tooth and nail syndrome skos:exactMatch DOID:0111661 ectodermal dysplasia 8 semapv:ManualMappingCuration 2023-03-17 MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:exactMatch DOID:0060196 amyotrophic lateral sclerosis type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:exactMatch DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:ManualMappingCuration 2023-03-17 MONDO:0011229 ethylmalonic encephalopathy skos:exactMatch DOID:0060640 ethylmalonic encephalopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0011231 febrile seizures, familial, 2 skos:exactMatch DOID:0111310 familial febrile seizures 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:exactMatch DOID:0070216 familial hyperinsulinemic hypoglycemia 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0011242 Bartter disease type 4A skos:exactMatch DOID:0110145 Bartter disease type 4A semapv:ManualMappingCuration 2023-03-17 MONDO:0011244 Marshall-Smith syndrome skos:exactMatch DOID:0050858 Marshall-Smith syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011246 megaconial type congenital muscular dystrophy skos:exactMatch DOID:0110632 megaconial type congenital muscular dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0011257 MPI-congenital disorder of glycosylation skos:exactMatch DOID:0080554 congenital disorder of glycosylation Ib semapv:ManualMappingCuration 2023-03-17 MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:exactMatch DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability semapv:ManualMappingCuration 2023-03-17 MONDO:0011264 torsion dystonia 6 skos:exactMatch DOID:0090039 torsion dystonia 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0011266 myotonic dystrophy type 2 skos:exactMatch DOID:0050759 myotonic dystrophy type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011269 psoriasis 2 skos:exactMatch DOID:0080475 psoriasis 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0011271 rigid spine muscular dystrophy 1 skos:exactMatch DOID:0110633 rigid spine muscular dystrophy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011273 H syndrome skos:exactMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:ManualMappingCuration 2023-04-17 MONDO:0011274 Muenke syndrome skos:exactMatch DOID:0060703 Muenke syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:exactMatch DOID:0080050 acromesomelic dysplasia, Maroteaux type semapv:ManualMappingCuration 2023-03-17 MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:exactMatch DOID:0080119 mitochondrial DNA depletion syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:exactMatch DOID:0080555 congenital disorder of glycosylation Ic semapv:ManualMappingCuration 2023-03-17 MONDO:0011299 Huntington disease-like 1 skos:exactMatch DOID:0090103 Huntington's disease-like 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011301 pseudohypoparathyroidism type 1B skos:exactMatch DOID:0080222 pseudohypoparathyroidism type IB semapv:ManualMappingCuration 2023-03-17 MONDO:0011302 type 1 diabetes mellitus 17 skos:exactMatch DOID:0110754 type 1 diabetes mellitus 17 semapv:ManualMappingCuration 2023-11-19 MONDO:0011303 focal segmental glomerulosclerosis 1 skos:exactMatch DOID:0111128 focal segmental glomerulosclerosis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011308 GRACILE syndrome skos:exactMatch DOID:0111455 GRACILE syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011309 familial gestational hyperthyroidism skos:exactMatch DOID:0081102 familial gestational hyperthyroidism semapv:ManualMappingCuration 2023-03-17 MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch DOID:0081294 neuronal intranuclear inclusion disease semapv:ManualMappingCuration 2023-04-17 MONDO:0011330 spinocerebellar ataxia type 10 skos:exactMatch DOID:0050960 spinocerebellar ataxia type 10 semapv:ManualMappingCuration 2023-03-17 MONDO:0011331 congenital chylothorax skos:exactMatch DOID:0060646 congenital chylothorax semapv:ManualMappingCuration 2024-06-23 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:exactMatch DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011338 Omenn syndrome skos:exactMatch DOID:0060010 Omenn syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011339 hereditary spastic paraplegia 8 skos:exactMatch DOID:0110823 hereditary spastic paraplegia 8 semapv:ManualMappingCuration 2023-03-17 MONDO:0011342 SLC35A1-congenital disorder of glycosylation skos:exactMatch DOID:0070258 congenital disorder of glycosylation type IIf semapv:ManualMappingCuration 2023-03-17 MONDO:0011346 xanthinuria type II skos:exactMatch DOID:0070453 xanthinuria type II semapv:ManualMappingCuration 2024-04-21 MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:exactMatch DOID:0110548 autosomal dominant nonsyndromic deafness 17 semapv:ManualMappingCuration 2024-04-21 MONDO:0011359 acromelic frontonasal dysostosis skos:exactMatch DOID:0060342 acromelic frontonasal dysostosis semapv:ManualMappingCuration 2023-03-17 MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:exactMatch DOID:0111188 myofibrillar myopathy 9 semapv:ManualMappingCuration 2023-03-17 MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:exactMatch DOID:0060290 Ohdo syndrome, SBBYS variant semapv:ManualMappingCuration 2023-03-17 MONDO:0011377 long QT syndrome 3 skos:exactMatch DOID:0110646 long QT syndrome 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0011381 dominant beta-thalassemia skos:exactMatch DOID:0080770 autosomal dominant beta thalassemia semapv:ManualMappingCuration 2023-04-17 MONDO:0011382 sickle cell anemia skos:exactMatch DOID:0081445 sickle cell disease semapv:ManualMappingCuration 2024-05-19 MONDO:0011382 sickle cell anemia skos:exactMatch DOID:10923 sickle cell anemia semapv:ManualMappingCuration 2023-03-17 MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:exactMatch DOID:0110115 autoimmune lymphoproliferative syndrome type 2A semapv:ManualMappingCuration 2023-03-17 MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts semapv:ManualMappingCuration 2023-03-17 MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:exactMatch DOID:0080957 primary hypoalphalipoproteinemia 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0011395 cone-rod dystrophy 3 skos:exactMatch DOID:0111013 cone-rod dystrophy 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:exactMatch DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy semapv:ManualMappingCuration 2023-03-17 MONDO:0011399 alpha thalassemia spectrum skos:exactMatch DOID:1099 alpha thalassemia semapv:ManualMappingCuration 2023-03-17 MONDO:0011400 dilated cardiomyopathy 1G skos:exactMatch DOID:0110430 dilated cardiomyopathy 1G semapv:ManualMappingCuration 2024-02-18 MONDO:0011405 poikiloderma with neutropenia skos:exactMatch DOID:0060551 poikiloderma with neutropenia semapv:ManualMappingCuration 2023-03-17 MONDO:0011408 hereditary spastic paraplegia 10 skos:exactMatch DOID:0110763 hereditary spastic paraplegia 10 semapv:ManualMappingCuration 2023-03-17 MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:exactMatch DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies semapv:ManualMappingCuration 2023-03-17 MONDO:0011414 Peters anomaly skos:exactMatch DOID:0060673 Peters anomaly semapv:ManualMappingCuration 2023-03-17 MONDO:0011414 Peters anomaly skos:exactMatch DOID:0080610 anterior segment dysgenesis 5 semapv:ManualMappingCuration 2023-06-18 MONDO:0011417 hemochromatosis type 3 skos:exactMatch DOID:0111030 hemochromatosis type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:exactMatch DOID:0050768 mitochondrial complex V (ATP synthase) deficiency nuclear type 1 semapv:ManualMappingCuration 2023-11-19 MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:exactMatch DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E semapv:ManualMappingCuration 2023-03-17 MONDO:0011426 aceruloplasminemia skos:exactMatch DOID:0050711 aceruloplasminemia semapv:ManualMappingCuration 2023-03-17 MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:exactMatch DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:exactMatch DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011439 spinocerebellar ataxia type 12 skos:exactMatch DOID:0050962 spinocerebellar ataxia type 12 semapv:ManualMappingCuration 2023-03-17 MONDO:0011445 hereditary spastic paraplegia 11 skos:exactMatch DOID:0110764 hereditary spastic paraplegia 11 semapv:ManualMappingCuration 2023-03-17 MONDO:0011448 PPARG-related familial partial lipodystrophy skos:exactMatch DOID:0070204 familial partial lipodystrophy type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:exactMatch DOID:0080357 mitochondrial complex IV deficiency nuclear type 2 semapv:ManualMappingCuration 2023-11-19 MONDO:0011456 nephronophthisis 3 skos:exactMatch DOID:0111114 nephronophthisis 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch DOID:0110074 arrhythmogenic right ventricular dysplasia 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:exactMatch DOID:0111294 generalized epilepsy with febrile seizures plus 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:exactMatch DOID:0080519 PAPA syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011464 spinocerebellar ataxia type 11 skos:exactMatch DOID:0050961 spinocerebellar ataxia type 11 semapv:ManualMappingCuration 2023-03-17 MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:exactMatch DOID:0110190 Charcot-Marie-Tooth disease type 4B2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011476 MHC class I deficiency skos:exactMatch DOID:0060009 MHC class I deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0011482 dilated cardiomyopathy 1I skos:exactMatch DOID:0110431 dilated cardiomyopathy 1I semapv:ManualMappingCuration 2024-02-18 MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:exactMatch DOID:0110071 arrhythmogenic right ventricular dysplasia 2 semapv:ManualMappingCuration 2023-07-09 MONDO:0011486 congenital muscular dystrophy 1B skos:exactMatch DOID:0110634 congenital muscular dystrophy 1B semapv:ManualMappingCuration 2023-03-17 MONDO:0011489 hereditary spastic paraplegia 12 skos:exactMatch DOID:0110765 hereditary spastic paraplegia 12 semapv:ManualMappingCuration 2023-03-17 MONDO:0011493 Stickler syndrome type 2 skos:exactMatch DOID:0080675 Stickler syndrome 2 semapv:ManualMappingCuration 2023-04-17 MONDO:0011505 familial hypobetalipoproteinemia 2 skos:exactMatch DOID:0111061 familial hypobetalipoproteinemia 2 semapv:ManualMappingCuration 2023-11-19 MONDO:0011512 Brooke-Spiegler syndrome skos:exactMatch DOID:0050693 Brooke-Spiegler syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011514 tricuspid atresia skos:exactMatch DOID:0080169 tricuspid atresia semapv:ManualMappingCuration 2023-11-19 MONDO:0011522 hereditary spastic paraplegia 14 skos:exactMatch DOID:0110767 hereditary spastic paraplegia 14 semapv:ManualMappingCuration 2023-03-17 MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:exactMatch DOID:0110195 Charcot-Marie-Tooth disease type 4E semapv:ManualMappingCuration 2023-03-17 MONDO:0011528 hyper-IgM syndrome type 2 skos:exactMatch DOID:0060758 immunodeficiency with hyper-IgM type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011529 spinocerebellar ataxia type 13 skos:exactMatch DOID:0050963 spinocerebellar ataxia type 13 semapv:ManualMappingCuration 2023-03-17 MONDO:0011532 hereditary spastic paraplegia 13 skos:exactMatch DOID:0110766 hereditary spastic paraplegia 13 semapv:ManualMappingCuration 2023-03-17 MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:exactMatch DOID:0050814 temtamy preaxial brachydactyly syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:exactMatch DOID:0110196 Charcot-Marie-Tooth disease type 4G semapv:ManualMappingCuration 2023-03-17 MONDO:0011535 split hand-foot malformation 4 skos:exactMatch DOID:0090023 split hand-foot malformation 4 semapv:ManualMappingCuration 2024-04-21 MONDO:0011537 macrocephaly-autism syndrome skos:exactMatch DOID:0060867 macrocephaly-autism syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011539 nemaline myopathy 5 skos:exactMatch DOID:0110936 nemaline myopathy 5A semapv:ManualMappingCuration 2023-03-17 MONDO:0011540 spinocerebellar ataxia type 14 skos:exactMatch DOID:0050964 spinocerebellar ataxia type 14 semapv:ManualMappingCuration 2023-03-17 MONDO:0011541 dilated cardiomyopathy 1J skos:exactMatch DOID:0110440 dilated cardiomyopathy 1J semapv:ManualMappingCuration 2023-03-17 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:exactMatch DOID:0070232 benign recurrent intrahepatic cholestasis 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011565 metabolic syndrome X skos:exactMatch DOID:14221 abdominal obesity-metabolic syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:exactMatch DOID:0110156 Charcot-Marie-Tooth disease type 2B1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:exactMatch DOID:0110179 Charcot-Marie-Tooth disease type 2B2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch DOID:0080719 congenital myopathy 6 semapv:ManualMappingCuration 2023-04-17 MONDO:0011579 late-onset retinal degeneration skos:exactMatch DOID:0060869 late-onset retinal degeneration semapv:ManualMappingCuration 2023-03-17 MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma skos:exactMatch DOID:0090128 Carvajal syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:exactMatch DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:exactMatch DOID:0070028 APP-related cerebral amyloid angiopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0011584 Fanconi anemia complementation group D1 skos:exactMatch DOID:0111089 Fanconi anemia complementation group D1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:exactMatch DOID:0111065 autosomal recessive distal hereditary motor neuronopathy 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:exactMatch DOID:0080085 nonsyndromic congenital nail disorder 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0011596 dermatitis, atopic, 2 skos:exactMatch DOID:0110098 atopic dermatitis 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0011599 birdshot chorioretinopathy skos:exactMatch DOID:0111079 birdshot chorioretinopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:exactMatch DOID:0070341 neonatal-onset type II citrullinemia semapv:ManualMappingCuration 2023-06-18 MONDO:0011603 GNE myopathy skos:exactMatch DOID:0080718 GNE myopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:exactMatch DOID:0081446 dimethylglycine dehydrogenase deficiency semapv:ManualMappingCuration 2024-05-19 MONDO:0011612 glycine encephalopathy skos:exactMatch DOID:9268 glycine encephalopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:exactMatch DOID:0081168 HMG-CoA synthase 2 deficiency semapv:ManualMappingCuration 2023-04-17 MONDO:0011628 propionic acidemia skos:exactMatch DOID:14701 propionic acidemia semapv:ManualMappingCuration 2023-03-17 MONDO:0011629 MOGS-congenital disorder of glycosylation skos:exactMatch DOID:0070254 congenital disorder of glycosylation type IIb semapv:ManualMappingCuration 2023-03-17 MONDO:0011631 hemochromatosis type 4 skos:exactMatch DOID:0111028 hemochromatosis type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:exactMatch DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C semapv:ManualMappingCuration 2023-03-17 MONDO:0011638 neuroferritinopathy skos:exactMatch DOID:0110737 neurodegeneration with brain iron accumulation 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0011652 Phelan-McDermid syndrome skos:exactMatch DOID:0080354 Phelan-McDermid syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011661 inflammatory bowel disease 5 skos:exactMatch DOID:0110889 inflammatory bowel disease 5 semapv:ManualMappingCuration 2023-04-17 MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:ManualMappingCuration 2023-04-17 MONDO:0011667 maturity-onset diabetes of the young type 4 skos:exactMatch DOID:0111103 maturity-onset diabetes of the young type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0011668 maturity-onset diabetes of the young type 6 skos:exactMatch DOID:0111104 maturity-onset diabetes of the young type 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0011669 hypotonia-cystinuria syndrome skos:exactMatch DOID:0060858 hypotonia-cystinuria syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:exactMatch DOID:0080731 Ehlers-Danlos syndrome classic-like 1 semapv:ManualMappingCuration 2023-06-18 MONDO:0011671 Huntington disease-like 2 skos:exactMatch DOID:0090104 Huntington's disease-like 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:exactMatch DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B semapv:ManualMappingCuration 2023-03-17 MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:exactMatch DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A semapv:ManualMappingCuration 2023-03-17 MONDO:0011681 episodic ataxia type 4 skos:exactMatch DOID:0050992 episodic ataxia type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0011682 episodic ataxia type 3 skos:exactMatch DOID:0050991 episodic ataxia type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0011683 oculocutaneous albinism type 4 skos:exactMatch DOID:0070098 oculocutaneous albinism type IV semapv:ManualMappingCuration 2023-03-17 MONDO:0011686 DNA ligase IV deficiency skos:exactMatch DOID:0060021 DNA ligase IV deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:exactMatch DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F semapv:ManualMappingCuration 2023-03-17 MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:exactMatch DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 semapv:ManualMappingCuration 2023-03-17 MONDO:0011694 spinocerebellar ataxia type 15/16 skos:exactMatch DOID:0050965 spinocerebellar ataxia type 15 semapv:ManualMappingCuration 2023-03-17 MONDO:0011698 glycine N-methyltransferase deficiency skos:exactMatch DOID:0111037 glycine N-methyltransferase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0011702 dilated cardiomyopathy 1L skos:exactMatch DOID:0110436 dilated cardiomyopathy 1L semapv:ManualMappingCuration 2024-02-18 MONDO:0011706 Kufor-Rakeb syndrome skos:exactMatch DOID:0060556 Kufor-Rakeb syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:exactMatch DOID:0110563 autosomal dominant nonsyndromic deafness 36 semapv:ManualMappingCuration 2024-04-21 MONDO:0011715 Seckel syndrome 2 skos:exactMatch DOID:0070013 Seckel syndrome 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:exactMatch DOID:0070217 familial hyperinsulinemic hypoglycemia 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0011719 gastrointestinal stromal tumor skos:exactMatch DOID:9253 gastrointestinal stromal tumor semapv:ManualMappingCuration 2023-03-17 MONDO:0011720 spermatogenic failure 3 skos:exactMatch DOID:0070168 spermatogenic failure 3 semapv:ManualMappingCuration 2024-02-18 MONDO:0011721 distal myopathy with anterior tibial onset skos:exactMatch DOID:0111187 distal myopathy with anterior tibial onset semapv:ManualMappingCuration 2023-03-17 MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch DOID:0070561 glucose transporter type 1 deficiency syndrome 1 semapv:ManualMappingCuration 2024-10-20 MONDO:0011728 benign essential blepharospasm skos:exactMatch DOID:529 blepharospasm semapv:ManualMappingCuration 2023-03-17 MONDO:0011730 fumaric aciduria skos:exactMatch DOID:0111261 fumarase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0011731 glucose-galactose malabsorption skos:exactMatch DOID:0070563 glucose-galactose malabsorption semapv:ManualMappingCuration 2024-10-20 MONDO:0011735 hyper-IgM syndrome type 3 skos:exactMatch DOID:0060023 immunodeficiency with hyper IgM type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0011738 bilateral frontoparietal polymicrogyria skos:exactMatch DOID:0080922 bilateral frontoparietal polymicrogyria semapv:ManualMappingCuration 2023-03-17 MONDO:0011740 Carney-Stratakis syndrome skos:exactMatch DOID:0080533 Carney-Stratakis syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011749 oculocutaneous albinism type 1B skos:exactMatch DOID:0070095 oculocutaneous albinism type IB semapv:ManualMappingCuration 2023-03-17 MONDO:0011758 Hurler syndrome skos:exactMatch DOID:0111390 mucopolysaccharidosis Ih semapv:ManualMappingCuration 2023-03-17 MONDO:0011759 Hurler-Scheie syndrome skos:exactMatch DOID:0111389 mucopolysaccharidosis Ih/s semapv:ManualMappingCuration 2023-03-17 MONDO:0011760 Scheie syndrome skos:exactMatch DOID:0060222 Scheie syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:exactMatch DOID:0070299 multiple epiphyseal dysplasia 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:exactMatch DOID:0110490 autosomal recessive nonsyndromic deafness 31 semapv:ManualMappingCuration 2024-04-21 MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch DOID:0111211 autosomal recessive distal hereditary motor neuronopathy 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:exactMatch DOID:0070256 congenital disorder of glycosylation type IId semapv:ManualMappingCuration 2023-03-17 MONDO:0011773 anauxetic dysplasia skos:exactMatch DOID:0080942 anauxetic dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0011776 CINCA syndrome skos:exactMatch DOID:0090029 CINCA syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011781 spinocerebellar ataxia type 17 skos:exactMatch DOID:0050967 spinocerebellar ataxia type 17 semapv:ManualMappingCuration 2023-03-17 MONDO:0011783 ALG12-congenital disorder of glycosylation skos:exactMatch DOID:0080559 congenital disorder of glycosylation Ig semapv:ManualMappingCuration 2023-03-17 MONDO:0011785 hereditary spastic paraplegia 19 skos:exactMatch DOID:0110772 hereditary spastic paraplegia 19 semapv:ManualMappingCuration 2023-03-17 MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:exactMatch DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I semapv:ManualMappingCuration 2023-03-17 MONDO:0011789 familial meningioma skos:exactMatch DOID:4586 familial meningioma semapv:ManualMappingCuration 2023-03-17 MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:exactMatch DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch DOID:0110816 hereditary spastic paraplegia 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:exactMatch DOID:0110116 autoimmune lymphoproliferative syndrome type 2B semapv:ManualMappingCuration 2023-03-17 MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:exactMatch DOID:0111611 autosomal recessive spinocerebellar ataxia 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0011812 Duane-radial ray syndrome skos:exactMatch DOID:0060747 Duane-radial ray syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011814 Smith-McCort dysplasia 1 skos:exactMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0011819 spinocerebellar ataxia type 19/22 skos:exactMatch DOID:0050970 spinocerebellar ataxia type 19/22 semapv:ManualMappingCuration 2023-03-17 MONDO:0011821 Meckel syndrome, type 3 skos:exactMatch DOID:0070117 Meckel syndrome 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0011822 Bartter disease type 3 skos:exactMatch DOID:0110144 Bartter disease type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:exactMatch DOID:0070238 primary coenzyme Q10 deficiency 1 semapv:ManualMappingCuration 2024-02-18 MONDO:0011830 lissencephaly due to LIS1 mutation skos:exactMatch DOID:0112237 lissencephaly 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:exactMatch DOID:0110076 arrhythmogenic right ventricular dysplasia 8 semapv:ManualMappingCuration 2023-03-17 MONDO:0011833 spinocerebellar ataxia type 21 skos:exactMatch DOID:0050972 spinocerebellar ataxia type 21 semapv:ManualMappingCuration 2023-03-17 MONDO:0011834 spinocerebellar ataxia type 18 skos:exactMatch DOID:0050969 spinocerebellar ataxia type 18 semapv:ManualMappingCuration 2023-03-17 MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:ManualMappingCuration 2023-03-17 MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:exactMatch DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 semapv:ManualMappingCuration 2023-06-18 MONDO:0011838 Bothnia retinal dystrophy skos:exactMatch DOID:0050683 Bothnia retinal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0011839 Newfoundland cone-rod dystrophy skos:exactMatch DOID:0111015 Newfoundland cone-rod dystrophy semapv:ManualMappingCuration 2023-11-19 MONDO:0011840 dilated cardiomyopathy 1M skos:exactMatch DOID:0110449 dilated cardiomyopathy 1M semapv:ManualMappingCuration 2024-02-18 MONDO:0011841 biotin-responsive basal ganglia disease skos:exactMatch DOID:0050659 biotin-responsive basal ganglia disease semapv:ManualMappingCuration 2023-03-17 MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:exactMatch DOID:0060672 GRN-related frontotemporal lobar degeneration with TDP43 inclusions semapv:ManualMappingCuration 2023-03-17 MONDO:0011843 hypertrophic cardiomyopathy 25 skos:exactMatch DOID:0110328 hypertrophic cardiomyopathy 25 semapv:ManualMappingCuration 2024-04-21 MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:exactMatch DOID:0080086 nonsyndromic congenital nail disorder 8 semapv:ManualMappingCuration 2024-04-21 MONDO:0011855 granular corneal dystrophy type II skos:exactMatch DOID:0060444 granular corneal dystrophy 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:ManualMappingCuration 2023-04-17 MONDO:0011862 hereditary spastic paraplegia 24 skos:exactMatch DOID:0110775 hereditary spastic paraplegia 24 semapv:ManualMappingCuration 2023-03-17 MONDO:0011868 lethal congenital contracture syndrome 2 skos:exactMatch DOID:0060560 lethal congenital contracture syndrome 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011871 Niemann-Pick disease type B skos:exactMatch DOID:0070112 Niemann-Pick disease type B semapv:ManualMappingCuration 2023-03-17 MONDO:0011872 Griscelli syndrome type 2 skos:exactMatch DOID:0060833 Griscelli syndrome type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:exactMatch DOID:0111312 idiopathic generalized epilepsy 11 semapv:ManualMappingCuration 2024-04-21 MONDO:0011877 autosomal dominant osteopetrosis 1 skos:exactMatch DOID:0110937 autosomal dominant osteopetrosis 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:exactMatch DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 semapv:ManualMappingCuration 2024-04-21 MONDO:0011881 keratosis palmoplantaris striata 3 skos:exactMatch DOID:0081110 keratosis palmoplantaris striata 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0011886 torsion dystonia 13 skos:exactMatch DOID:0090037 torsion dystonia 13 semapv:ManualMappingCuration 2023-03-17 MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:exactMatch DOID:0110158 Charcot-Marie-Tooth disease type 2I semapv:ManualMappingCuration 2023-03-17 MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:exactMatch DOID:0110150 Charcot-Marie-Tooth disease type 1D semapv:ManualMappingCuration 2023-03-17 MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:exactMatch DOID:0111323 idiopathic generalized epilepsy 9 semapv:ManualMappingCuration 2024-04-21 MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:exactMatch DOID:0110165 Charcot-Marie-Tooth disease type 2E semapv:ManualMappingCuration 2023-03-17 MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:exactMatch DOID:0060794 hypomyelinating leukodystrophy 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch DOID:0080691 Noonan syndrome-like disorder with loose anagen hair semapv:ManualMappingCuration 2023-03-17 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:exactMatch DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H semapv:ManualMappingCuration 2023-03-17 MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:exactMatch DOID:0110149 Charcot-Marie-Tooth disease type 1F semapv:ManualMappingCuration 2023-03-17 MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:exactMatch DOID:0110157 Charcot-Marie-Tooth disease type 2J semapv:ManualMappingCuration 2023-03-17 MONDO:0011906 congenital bile acid synthesis defect 1 skos:exactMatch DOID:0111071 congenital bile acid synthesis defect 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0011907 acrocapitofemoral dysplasia skos:exactMatch DOID:0050604 acrocapitofemoral dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:exactMatch DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D semapv:ManualMappingCuration 2023-03-17 MONDO:0011911 craniolenticulosutural dysplasia skos:exactMatch DOID:0070307 craniolenticulosutural dysplasia semapv:ManualMappingCuration 2023-03-17 MONDO:0011913 Alzheimer disease 3 skos:exactMatch DOID:0110042 Alzheimer's disease 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:exactMatch DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K semapv:ManualMappingCuration 2023-03-17 MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:exactMatch DOID:0110636 congenital merosin-deficient muscular dystrophy 1A semapv:ManualMappingCuration 2023-03-17 MONDO:0011929 chromosome 1p36 deletion syndrome skos:exactMatch DOID:0060410 chromosome 1p36 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011933 ALG2-congenital disorder of glycosylation skos:exactMatch DOID:0080561 congenital disorder of glycosylation Ii semapv:ManualMappingCuration 2023-03-17 MONDO:0011934 dermatofibrosarcoma protuberans skos:exactMatch DOID:3507 dermatofibrosarcoma protuberans semapv:ManualMappingCuration 2023-03-17 MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:ManualMappingCuration 2023-04-17 MONDO:0011938 atrial septal defect 2 skos:exactMatch DOID:0110107 atrial heart septal defect 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0011945 Gaucher disease perinatal lethal skos:exactMatch DOID:0110960 Gaucher's disease perinatal lethal semapv:ManualMappingCuration 2023-03-17 MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch DOID:0060272 pontocerebellar hypoplasia type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:exactMatch DOID:0111617 autosomal recessive spinocerebellar ataxia 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0011957 retinal macular dystrophy type 2 skos:exactMatch DOID:0070517 retinal macular dystrophy 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0011959 sweet syndrome skos:exactMatch DOID:0080746 Sweet syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:exactMatch DOID:0070148 hereditary sensory neuropathy type 1B semapv:ManualMappingCuration 2023-03-17 MONDO:0011962 endometrial cancer skos:exactMatch DOID:1380 endometrial cancer semapv:ManualMappingCuration 2023-03-17 MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:exactMatch DOID:0080562 congenital disorder of glycosylation Ij semapv:ManualMappingCuration 2023-03-17 MONDO:0011965 familial temporal lobe epilepsy 2 skos:exactMatch DOID:0060755 familial temporal lobe epilepsy 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:exactMatch DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D semapv:ManualMappingCuration 2023-03-17 MONDO:0011969 ALG8-congenital disorder of glycosylation skos:exactMatch DOID:0080560 congenital disorder of glycosylation Ih semapv:ManualMappingCuration 2023-03-17 MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:exactMatch DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011971 hyper-IgM syndrome type 5 skos:exactMatch DOID:0060759 immunodeficiency with hyper IgM type 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0011972 ovarian hyperstimulation syndrome skos:exactMatch DOID:5425 ovarian hyperstimulation syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0011985 hyper-IgM syndrome type 4 skos:exactMatch DOID:0060760 immunodeficiency with hyper-IgM type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0011988 neutrophil immunodeficiency syndrome skos:exactMatch DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis semapv:ManualMappingCuration 2023-04-17 MONDO:0011992 hereditary spastic paraplegia 25 skos:exactMatch DOID:0110776 hereditary spastic paraplegia 25 semapv:ManualMappingCuration 2023-03-17 MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch DOID:0060540 Hermansky-Pudlak syndrome 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:exactMatch DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C semapv:ManualMappingCuration 2023-03-17 MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:exactMatch DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A semapv:ManualMappingCuration 2023-03-17 MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:exactMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:ManualMappingCuration 2023-06-18 MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:exactMatch DOID:0060436 chromosome 22q11.2 microduplication syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012031 platelet-type bleeding disorder 10 skos:exactMatch DOID:0111046 platelet-type bleeding disorder 10 semapv:ManualMappingCuration 2023-03-17 MONDO:0012033 bradyopsia skos:exactMatch DOID:0050335 bradyopsia semapv:ManualMappingCuration 2023-03-17 MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:exactMatch DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012041 familial adenomatous polyposis 2 skos:exactMatch DOID:0080410 familial adenomatous polyposis 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012043 Reis-Bucklers corneal dystrophy skos:exactMatch DOID:0060453 Reis-Bucklers corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0012052 ALG1-congenital disorder of glycosylation skos:exactMatch DOID:0080563 congenital disorder of glycosylation Ik semapv:ManualMappingCuration 2023-03-17 MONDO:0012056 Leber congenital amaurosis 9 skos:exactMatch DOID:0110005 Leber congenital amaurosis 9 semapv:ManualMappingCuration 2024-04-21 MONDO:0012062 dilated cardiomyopathy 1O skos:exactMatch DOID:0110451 dilated cardiomyopathy 1O semapv:ManualMappingCuration 2024-02-18 MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:exactMatch DOID:0080695 Burn-McKeown syndrome semapv:ManualMappingCuration 2023-04-17 MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:exactMatch DOID:0070207 familial partial lipodystrophy type 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:exactMatch DOID:0081129 mandibuloacral dysplasia type B lipodystrophy semapv:ManualMappingCuration 2023-06-18 MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch DOID:0050752 amyotrophic lateral sclerosis type 8 semapv:ManualMappingCuration 2024-04-21 MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:exactMatch DOID:0111207 autosomal dominant distal hereditary motor neuronopathy 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:exactMatch DOID:0110557 autosomal dominant nonsyndromic deafness 28 semapv:ManualMappingCuration 2024-04-21 MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:exactMatch DOID:0090123 aromatic L-amino acid decarboxylase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012088 primary ciliary dyskinesia 5 skos:exactMatch DOID:0110617 primary ciliary dyskinesia 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:exactMatch DOID:0070145 hereditary sensory and autonomic neuropathy type 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:exactMatch DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L semapv:ManualMappingCuration 2023-03-17 MONDO:0012098 spinocerebellar ataxia type 20 skos:exactMatch DOID:0050971 spinocerebellar ataxia type 20 semapv:ManualMappingCuration 2023-03-17 MONDO:0012103 spinocerebellar ataxia type 25 skos:exactMatch DOID:0050974 spinocerebellar ataxia type 25 semapv:ManualMappingCuration 2023-03-17 MONDO:0012112 hypertrophic cardiomyopathy 10 skos:exactMatch DOID:0110316 hypertrophic cardiomyopathy 10 semapv:ManualMappingCuration 2023-03-17 MONDO:0012116 spinocerebellar ataxia type 8 skos:exactMatch DOID:0050959 spinocerebellar ataxia type 8 semapv:ManualMappingCuration 2023-03-17 MONDO:0012117 ALG9-congenital disorder of glycosylation skos:exactMatch DOID:0080564 congenital disorder of glycosylation Il semapv:ManualMappingCuration 2023-03-17 MONDO:0012118 COG7-congenital disorder of glycosylation skos:exactMatch DOID:0070257 congenital disorder of glycosylation type IIe semapv:ManualMappingCuration 2024-04-21 MONDO:0012123 congenital disorder of glycosylation type 1E skos:exactMatch DOID:0080557 congenital disorder of glycosylation Ie semapv:ManualMappingCuration 2023-03-17 MONDO:0012125 hypomyelinating leukodystrophy 2 skos:exactMatch DOID:0060787 hypomyelinating leukodystrophy 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:exactMatch DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J semapv:ManualMappingCuration 2023-03-17 MONDO:0012128 transposition of the great arteries, dextro-looped skos:exactMatch DOID:0060771 dextro-looped transposition of the great arteries 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0012130 myofibrillar myopathy 2 skos:exactMatch DOID:0080093 myofibrillar myopathy 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:exactMatch DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 semapv:ManualMappingCuration 2023-03-17 MONDO:0012141 orofacial cleft 6, susceptibility to skos:exactMatch DOID:0080593 orofacial cleft 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0012142 orofacial cleft 5 skos:exactMatch DOID:0080399 orofacial cleft 5 semapv:ManualMappingCuration 2023-11-19 MONDO:0012155 choanal atresia skos:exactMatch DOID:9574 choanal atresia semapv:ManualMappingCuration 2023-03-17 MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:ManualMappingCuration 2023-04-17 MONDO:0012163 immunodeficiency 104 skos:exactMatch DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive semapv:ManualMappingCuration 2023-03-17 MONDO:0012166 autosomal dominant sensory ataxia 1 skos:exactMatch DOID:0111170 autosomal dominant sensory ataxia 1 semapv:ManualMappingCuration 2023-11-19 MONDO:0012172 mitochondrial trifunctional protein deficiency skos:exactMatch DOID:0111277 mitochondrial trifunctional protein deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012181 hereditary spastic paraplegia 27 skos:exactMatch DOID:0110778 hereditary spastic paraplegia 27 semapv:ManualMappingCuration 2023-03-17 MONDO:0012184 Pierson syndrome skos:exactMatch DOID:0060852 Pierson syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:exactMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:ManualMappingCuration 2023-06-18 MONDO:0012186 Fanconi anemia complementation group I skos:exactMatch DOID:0111091 Fanconi anemia complementation group I semapv:ManualMappingCuration 2023-03-17 MONDO:0012187 Fanconi anemia complementation group J skos:exactMatch DOID:0111097 Fanconi anemia complementation group J semapv:ManualMappingCuration 2023-03-17 MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:exactMatch DOID:0110733 neuronal ceroid lipofuscinosis 9 semapv:ManualMappingCuration 2023-03-17 MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:exactMatch DOID:0111474 combined oxidative phosphorylation deficiency 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:exactMatch DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:ManualMappingCuration 2023-04-17 MONDO:0012198 PCWH syndrome skos:exactMatch DOID:0090111 PCWH syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:exactMatch DOID:0081101 nonautoimmune hyperthyroidism semapv:ManualMappingCuration 2023-04-17 MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:exactMatch DOID:0080558 congenital disorder of glycosylation If semapv:ManualMappingCuration 2023-03-17 MONDO:0012212 Loeys-Dietz syndrome 1 skos:exactMatch DOID:0070235 Loeys-Dietz syndrome 1 semapv:ManualMappingCuration 2024-04-21 MONDO:0012213 hereditary spastic paraplegia 26 skos:exactMatch DOID:0110777 hereditary spastic paraplegia 26 semapv:ManualMappingCuration 2023-03-17 MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch DOID:0080094 myofibrillar myopathy 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:exactMatch DOID:0070531 foveal hypoplasia 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0012220 Griscelli syndrome type 3 skos:exactMatch DOID:0060834 Griscelli syndrome type 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:ManualMappingCuration 2023-04-17 MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:exactMatch DOID:0110155 Charcot-Marie-Tooth disease type 2A2A semapv:ManualMappingCuration 2023-03-17 MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:exactMatch DOID:0080059 autosomal recessive spinocerebellar ataxia 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0012237 nemaline myopathy 6 skos:exactMatch DOID:0110935 nemaline myopathy 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:exactMatch DOID:0111517 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:exactMatch DOID:0110926 nemaline myopathy 1 semapv:ManualMappingCuration 2023-09-24 MONDO:0012240 congenital myopathy 23 skos:exactMatch DOID:0110932 nemaline myopathy 4 semapv:ManualMappingCuration 2024-04-21 MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:exactMatch DOID:0111520 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0012246 spinocerebellar ataxia type 26 skos:exactMatch DOID:0050975 spinocerebellar ataxia type 26 semapv:ManualMappingCuration 2023-03-17 MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch DOID:0050976 spinocerebellar ataxia type 27 semapv:ManualMappingCuration 2023-03-17 MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:exactMatch DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K semapv:ManualMappingCuration 2023-03-17 MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:exactMatch DOID:0110192 Charcot-Marie-Tooth disease type 4H semapv:ManualMappingCuration 2023-03-17 MONDO:0012251 MEDNIK syndrome skos:exactMatch DOID:0060483 MEDNIK syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012256 hereditary spastic paraplegia 28 skos:exactMatch DOID:0110779 hereditary spastic paraplegia 28 semapv:ManualMappingCuration 2023-03-17 MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:exactMatch DOID:0060419 chromosome 3q29 microdeletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012274 acromesomelic dysplasia 3 skos:exactMatch DOID:0081237 acromesomelic dysplasia-3 semapv:ManualMappingCuration 2023-06-18 MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:exactMatch DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0012277 myofibrillar myopathy 4 skos:exactMatch DOID:0080095 myofibrillar myopathy 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0012280 Goldberg-Shprintzen syndrome skos:exactMatch DOID:0060481 Goldberg-Shprintzen syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012289 myofibrillar myopathy 5 skos:exactMatch DOID:0080096 myofibrillar myopathy 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0012290 CEDNIK syndrome skos:exactMatch DOID:0060337 CEDNIK syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012297 spastic paraplegia, optic atropy, and neuropathy skos:exactMatch DOID:0060491 SPOAN syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:exactMatch DOID:0080120 mitochondrial DNA depletion syndrome 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012308 Joubert syndrome with renal defect skos:exactMatch DOID:0110999 Joubert syndrome 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0012315 distal 10q deletion syndrome skos:exactMatch DOID:0060390 distal 10q deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012320 migraine, familial hemiplegic, 3 skos:exactMatch DOID:0111183 familial hemiplegic migraine 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0012322 holoprosencephaly 5 skos:exactMatch DOID:0110878 holoprosencephaly 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:exactMatch DOID:0110509 autosomal recessive nonsyndromic deafness 53 semapv:ManualMappingCuration 2024-04-21 MONDO:0012334 hereditary spastic paraplegia 29 skos:exactMatch DOID:0110780 hereditary spastic paraplegia 29 semapv:ManualMappingCuration 2023-03-17 MONDO:0012342 7q11.23 microduplication syndrome skos:exactMatch DOID:0080926 7q11.23 duplication syndrome semapv:ManualMappingCuration 2023-04-17 MONDO:0012345 acral peeling skin syndrome skos:exactMatch DOID:0070521 peeling skin syndrome 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0012351 zygodactyly type 1 skos:exactMatch DOID:0111820 zygodactyly 1 semapv:ManualMappingCuration 2023-04-17 MONDO:0012353 erythrocytosis, familial, 3 skos:exactMatch DOID:0080338 familial erythrocytosis 3 semapv:ManualMappingCuration 2024-02-18 MONDO:0012354 platelet-type bleeding disorder 8 skos:exactMatch DOID:0060692 platelet-type bleeding disorder 8 semapv:ManualMappingCuration 2023-03-17 MONDO:0012363 retinitis pigmentosa 32 skos:exactMatch DOID:0110355 retinitis pigmentosa 32 semapv:ManualMappingCuration 2023-03-17 MONDO:0012381 hyperinsulinism due to INSR deficiency skos:exactMatch DOID:0070220 familial hyperinsulinemic hypoglycemia 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:exactMatch DOID:0070215 familial hyperinsulinemic hypoglycemia 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch DOID:0111967 immunodeficiency 54 semapv:ManualMappingCuration 2023-04-17 MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:exactMatch DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant semapv:ManualMappingCuration 2023-03-17 MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch DOID:0070544 congenital glutamine deficiency semapv:ManualMappingCuration 2024-07-21 MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch DOID:0081318 multiple synostoses syndrome 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0012396 exercise-induced hyperinsulinism skos:exactMatch DOID:0070214 familial hyperinsulinemic hypoglycemia 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:exactMatch DOID:0090132 complex cortical dysplasia with other brain malformations 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:exactMatch DOID:0090130 cortical dysplasia-focal epilepsy syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012401 congenital stromal corneal dystrophy skos:exactMatch DOID:0060445 congenital stromal corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0012407 pyridoxal phosphate-responsive seizures skos:exactMatch DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch DOID:0111189 distal myopathy 3 semapv:ManualMappingCuration 2023-04-17 MONDO:0012411 giant axonal neuropathy 2 skos:exactMatch DOID:0090069 giant axonal neuropathy 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch DOID:0111806 syndromic microphthalmia 5 semapv:ManualMappingCuration 2023-04-17 MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:exactMatch DOID:0110725 neuronal ceroid lipofuscinosis 10 semapv:ManualMappingCuration 2023-03-17 MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:exactMatch DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 semapv:ManualMappingCuration 2023-11-19 MONDO:0012419 age related macular degeneration 7 skos:exactMatch DOID:0110019 age related macular degeneration 7 semapv:ManualMappingCuration 2024-04-21 MONDO:0012426 immunodeficiency 25 skos:exactMatch DOID:0060007 CD3zeta deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012426 immunodeficiency 25 skos:exactMatch DOID:0111942 immunodeficiency 25 semapv:ManualMappingCuration 2023-03-17 MONDO:0012432 Joubert syndrome 5 skos:exactMatch DOID:0111000 Joubert syndrome 5 semapv:ManualMappingCuration 2024-04-21 MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch DOID:0110081 arrhythmogenic right ventricular dysplasia 10 semapv:ManualMappingCuration 2024-04-21 MONDO:0012435 3-methylglutaconic aciduria type 5 skos:exactMatch DOID:0110000 3-methylglutaconic aciduria type 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:exactMatch DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism semapv:ManualMappingCuration 2023-03-17 MONDO:0012438 pontocerebellar hypoplasia type 5 skos:exactMatch DOID:0060274 pontocerebellar hypoplasia type 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0012448 hereditary spastic paraplegia 33 skos:exactMatch DOID:0110784 hereditary spastic paraplegia 33 semapv:ManualMappingCuration 2023-09-24 MONDO:0012449 spinocerebellar ataxia type 23 skos:exactMatch DOID:0050973 spinocerebellar ataxia type 23 semapv:ManualMappingCuration 2023-03-17 MONDO:0012450 spinocerebellar ataxia type 28 skos:exactMatch DOID:0050977 spinocerebellar ataxia type 28 semapv:ManualMappingCuration 2023-03-17 MONDO:0012453 hereditary spastic paraplegia 31 skos:exactMatch DOID:0110782 hereditary spastic paraplegia 31 semapv:ManualMappingCuration 2023-03-17 MONDO:0012455 Kleefstra syndrome skos:exactMatch DOID:0080597 Kleefstra syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012456 congenital primary aphakia skos:exactMatch DOID:0080607 anterior segment dysgenesis 2 semapv:ManualMappingCuration 2023-06-18 MONDO:0012456 congenital primary aphakia skos:exactMatch DOID:11367 congenital aphakia semapv:ManualMappingCuration 2023-03-17 MONDO:0012475 cone dystrophy with supernormal rod response skos:exactMatch DOID:0081022 retinal cone dystrophy 3B semapv:ManualMappingCuration 2023-04-17 MONDO:0012476 hereditary spastic paraplegia 30 skos:exactMatch DOID:0110781 hereditary spastic paraplegia 30 semapv:ManualMappingCuration 2023-03-17 MONDO:0012479 congenital malabsorptive diarrhea 4 skos:exactMatch DOID:0060779 congenital malabsorptive diarrhea 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0012481 mevalonic aciduria skos:exactMatch DOID:0050452 mevalonic aciduria semapv:ManualMappingCuration 2023-03-17 MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:exactMatch DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type semapv:ManualMappingCuration 2023-03-17 MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:exactMatch DOID:0080170 normophosphatemic familial tumoral calcinosis semapv:ManualMappingCuration 2023-03-17 MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch DOID:0080172 thiopurine S-methyltransferase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:exactMatch DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:ManualMappingCuration 2024-10-20 MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:exactMatch DOID:0111483 combined oxidative phosphorylation deficiency 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012511 preterm premature rupture of the membranes skos:exactMatch DOID:0111144 preterm premature rupture of the membranes semapv:ManualMappingCuration 2023-03-17 MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:exactMatch DOID:0111486 combined oxidative phosphorylation deficiency 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0012514 hypomyelinating leukodystrophy 5 skos:exactMatch DOID:0060793 hypomyelinating leukodystrophy 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:exactMatch DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type semapv:ManualMappingCuration 2023-03-17 MONDO:0012517 Gaucher disease due to saposin C deficiency skos:exactMatch DOID:0110961 atypical Gaucher's disease due to saposin C deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012526 hereditary angioedema type 3 skos:exactMatch DOID:0080940 hereditary angioedema type III semapv:ManualMappingCuration 2023-06-18 MONDO:0012531 xeroderma pigmentosum group B skos:exactMatch DOID:0110850 xeroderma pigmentosum group B semapv:ManualMappingCuration 2023-03-17 MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:exactMatch DOID:0111494 combined oxidative phosphorylation deficiency 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0012538 nemaline myopathy 7 skos:exactMatch DOID:0110934 nemaline myopathy 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0012539 Joubert syndrome 6 skos:exactMatch DOID:0111001 Joubert syndrome 6 semapv:ManualMappingCuration 2024-04-21 MONDO:0012540 age related macular degeneration 4 skos:exactMatch DOID:0110017 age related macular degeneration 4 semapv:ManualMappingCuration 2024-04-21 MONDO:0012544 brachydactyly-syndactyly syndrome skos:exactMatch DOID:0050689 brachydactyly-syndactyly syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012548 Kostmann syndrome skos:exactMatch DOID:0112133 severe congenital neutropenia 3 semapv:ManualMappingCuration 2023-04-17 MONDO:0012549 autosomal recessive ataxia, Beauce type skos:exactMatch DOID:0111618 autosomal recessive spinocerebellar ataxia 8 semapv:ManualMappingCuration 2023-03-17 MONDO:0012552 multiple endocrine neoplasia type 4 skos:exactMatch DOID:0080137 multiple endocrine neoplasia type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:exactMatch DOID:0080912 cerebrooculofacioskeletal syndrome 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0012556 DK1-congenital disorder of glycosylation skos:exactMatch DOID:0080565 congenital disorder of glycosylation Im semapv:ManualMappingCuration 2023-03-17 MONDO:0012561 congenital anomalies of kidney and urinary tract 1 skos:exactMatch DOID:0080206 CAKUT1 semapv:ManualMappingCuration 2023-03-17 MONDO:0012563 holoprosencephaly 9 skos:exactMatch DOID:0110873 holoprosencephaly 9 semapv:ManualMappingCuration 2024-04-21 MONDO:0012565 Fanconi anemia complementation group N skos:exactMatch DOID:0111094 Fanconi anemia complementation group N semapv:ManualMappingCuration 2023-03-17 MONDO:0012574 Potocki-Lupski syndrome skos:exactMatch DOID:0060853 Potocki-Lupski syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:exactMatch DOID:0110722 neuronal ceroid lipofuscinosis 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0012589 Pitt-Hopkins syndrome skos:exactMatch DOID:0060488 Pitt-Hopkins syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012590 XFE progeroid syndrome skos:exactMatch DOID:0060590 XFE progeroid syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012591 osteogenesis imperfecta type 5 skos:exactMatch DOID:0110344 osteogenesis imperfecta type 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0012594 complement factor I deficiency skos:exactMatch DOID:0050419 complement factor I deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012596 PSAT deficiency skos:exactMatch DOID:0050723 PSAT deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012605 isolated microphthalmia 5 skos:exactMatch DOID:0060837 isolated microphthalmia 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 skos:exactMatch DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:exactMatch DOID:0070511 polyhydramnios, megalencephaly, and symptomatic epilepsy semapv:ManualMappingCuration 2024-04-21 MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:ManualMappingCuration 2023-04-17 MONDO:0012625 retinitis pigmentosa 37 skos:exactMatch DOID:0110399 retinitis pigmentosa 37 semapv:ManualMappingCuration 2024-04-21 MONDO:0012626 Meckel syndrome, type 4 skos:exactMatch DOID:0070118 Meckel syndrome 4 semapv:ManualMappingCuration 2024-04-21 MONDO:0012635 COG8-congenital disorder of glycosylation skos:exactMatch DOID:0070260 congenital disorder of glycosylation type IIh semapv:ManualMappingCuration 2023-03-17 MONDO:0012637 COG1-congenital disorder of glycosylation skos:exactMatch DOID:0070259 congenital disorder of glycosylation type IIg semapv:ManualMappingCuration 2023-03-17 MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch DOID:0111812 syndromic microphthalmia 10 semapv:ManualMappingCuration 2023-04-17 MONDO:0012639 hereditary spastic paraplegia 18 skos:exactMatch DOID:0110771 hereditary spastic paraplegia 18 semapv:ManualMappingCuration 2023-03-17 MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:exactMatch DOID:0110184 Charcot-Marie-Tooth disease type 4J semapv:ManualMappingCuration 2023-03-17 MONDO:0012643 hereditary spastic paraplegia 32 skos:exactMatch DOID:0110783 hereditary spastic paraplegia 32 semapv:ManualMappingCuration 2023-03-17 MONDO:0012651 spastic ataxia 2 skos:exactMatch DOID:0050941 spastic ataxia 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:exactMatch DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L semapv:ManualMappingCuration 2023-03-17 MONDO:0012656 lethal congenital contracture syndrome 3 skos:exactMatch DOID:0060653 lethal congenital contracture syndrome 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0012658 brachydactyly type B2 skos:exactMatch DOID:0110975 brachydactyly type B2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012659 age related macular degeneration 9 skos:exactMatch DOID:0110021 age related macular degeneration 9 semapv:ManualMappingCuration 2024-04-21 MONDO:0012662 Usher syndrome type 2D skos:exactMatch DOID:0110840 Usher syndrome type 2D semapv:ManualMappingCuration 2023-03-17 MONDO:0012664 spastic ataxia 3 skos:exactMatch DOID:0050942 spastic ataxia 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0012665 cataract 33 skos:exactMatch DOID:0110264 cataract 33 semapv:ManualMappingCuration 2023-03-17 MONDO:0012667 dilated cardiomyopathy 1W skos:exactMatch DOID:0110446 dilated cardiomyopathy 1W semapv:ManualMappingCuration 2024-02-18 MONDO:0012669 Legius syndrome skos:exactMatch DOID:0070484 Legius syndrome semapv:ManualMappingCuration 2024-04-21 MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:exactMatch DOID:0110515 autosomal recessive nonsyndromic deafness 63 semapv:ManualMappingCuration 2023-03-17 MONDO:0012675 corticosteroid-binding globulin deficiency skos:exactMatch DOID:0090030 corticosteroid-binding globulin deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012676 autosomal recessive osteopetrosis 4 skos:exactMatch DOID:0110944 autosomal recessive osteopetrosis 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0012679 autosomal recessive osteopetrosis 6 skos:exactMatch DOID:0110945 autosomal recessive osteopetrosis 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0012682 immunodeficiency 35 skos:exactMatch DOID:0111989 immunodeficiency 35 semapv:ManualMappingCuration 2023-03-17 MONDO:0012683 pontocerebellar hypoplasia type 6 skos:exactMatch DOID:0060275 pontocerebellar hypoplasia type 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:exactMatch DOID:0110083 arrhythmogenic right ventricular dysplasia 12 semapv:ManualMappingCuration 2024-04-21 MONDO:0012698 Waardenburg syndrome type 2E skos:exactMatch DOID:0110956 Waardenburg syndrome type 2E semapv:ManualMappingCuration 2024-04-21 MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:exactMatch DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M semapv:ManualMappingCuration 2023-03-17 MONDO:0012701 cataract 12 multiple types skos:exactMatch DOID:0110239 cataract 12 multiple types semapv:ManualMappingCuration 2023-03-17 MONDO:0012704 dilated cardiomyopathy 1X skos:exactMatch DOID:0110444 dilated cardiomyopathy 1X semapv:ManualMappingCuration 2024-02-18 MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:exactMatch DOID:0081341 congenital myopathy 5 semapv:ManualMappingCuration 2023-07-09 MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:ManualMappingCuration 2023-04-17 MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:exactMatch DOID:0111473 combined oxidative phosphorylation deficiency 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0012719 combined PSAP deficiency skos:exactMatch DOID:0111330 combined saposin deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012721 progressive myoclonic epilepsy type 3 skos:exactMatch DOID:0111446 progressive myoclonus epilepsy 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0012723 Leber congenital amaurosis 10 skos:exactMatch DOID:0110291 Leber congenital amaurosis 10 semapv:ManualMappingCuration 2024-04-21 MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:exactMatch DOID:0090063 familial cold autoinflammatory syndrome 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012729 erythrocytosis, familial, 4 skos:exactMatch DOID:0080339 familial erythrocytosis 4 semapv:ManualMappingCuration 2024-02-18 MONDO:0012733 autosomal recessive bestrophinopathy skos:exactMatch DOID:0050662 bestrophinopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0012736 long QT syndrome 9 skos:exactMatch DOID:0110650 long QT syndrome 9 semapv:ManualMappingCuration 2024-04-21 MONDO:0012737 long QT syndrome 10 skos:exactMatch DOID:0110651 long QT syndrome 10 semapv:ManualMappingCuration 2023-03-17 MONDO:0012738 long QT syndrome 11 skos:exactMatch DOID:0110652 long QT syndrome 11 semapv:ManualMappingCuration 2023-03-17 MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:exactMatch DOID:0060413 chromosome 22q11.2 deletion syndrome, distal semapv:ManualMappingCuration 2023-03-17 MONDO:0012742 Brugada syndrome 3 skos:exactMatch DOID:0110220 Brugada syndrome 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0012745 dilated cardiomyopathy 1Z skos:exactMatch DOID:0110434 dilated cardiomyopathy 1Z semapv:ManualMappingCuration 2024-02-18 MONDO:0012746 dilated cardiomyopathy 2A skos:exactMatch DOID:0110460 dilated cardiomyopathy 2A semapv:ManualMappingCuration 2024-02-18 MONDO:0012755 episodic ataxia type 7 skos:exactMatch DOID:0050995 episodic ataxia type 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:exactMatch DOID:0070515 chromosome 16p11.2 deletion syndrome, 593-kb semapv:ManualMappingCuration 2024-04-21 MONDO:0012761 chromosome 3q29 microduplication syndrome skos:exactMatch DOID:0060459 chromosome 3q29 microduplication syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012766 hereditary spastic paraplegia 37 skos:exactMatch DOID:0110788 hereditary spastic paraplegia 37 semapv:ManualMappingCuration 2023-03-17 MONDO:0012767 age related macular degeneration 11 skos:exactMatch DOID:0110023 age related macular degeneration 11 semapv:ManualMappingCuration 2024-04-21 MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:exactMatch DOID:0060394 chromosome 15q13.3 microdeletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012783 RFT1-congenital disorder of glycosylation skos:exactMatch DOID:0080566 congenital disorder of glycosylation In semapv:ManualMappingCuration 2023-03-17 MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:exactMatch DOID:0070241 primary coenzyme Q10 deficiency 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:exactMatch DOID:0070353 cataract 47 semapv:ManualMappingCuration 2023-03-17 MONDO:0012787 hereditary spastic paraplegia 39 skos:exactMatch DOID:0110790 hereditary spastic paraplegia 39 semapv:ManualMappingCuration 2023-03-17 MONDO:0012789 dystonia 16 skos:exactMatch DOID:0090048 dystonia 16 semapv:ManualMappingCuration 2023-03-17 MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:exactMatch DOID:0080124 mitochondrial DNA depletion syndrome 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch DOID:0070331 mitochondrial DNA depletion syndrome 8b semapv:ManualMappingCuration 2023-06-18 MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:exactMatch DOID:0080127 mitochondrial DNA depletion syndrome 8A semapv:ManualMappingCuration 2023-03-17 MONDO:0012794 ANE syndrome skos:exactMatch DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome semapv:ManualMappingCuration 2023-04-17 MONDO:0012796 retinitis pigmentosa 41 skos:exactMatch DOID:0110376 retinitis pigmentosa 41 semapv:ManualMappingCuration 2024-04-21 MONDO:0012799 hypertrophic cardiomyopathy 11 skos:exactMatch DOID:0110317 hypertrophic cardiomyopathy 11 semapv:ManualMappingCuration 2023-03-17 MONDO:0012802 oculoauricular syndrome skos:exactMatch DOID:0060482 oculoauricular syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012804 hypertrophic cardiomyopathy 12 skos:exactMatch DOID:0110318 hypertrophic cardiomyopathy 12 semapv:ManualMappingCuration 2023-03-17 MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:exactMatch DOID:0090045 glucose transporter type 1 deficiency syndrome 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:exactMatch DOID:0081079 ectodermal dysplasia and immunodeficiency 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0012808 dilated cardiomyopathy 1AA skos:exactMatch DOID:0110428 dilated cardiomyopathy 1AA semapv:ManualMappingCuration 2024-02-18 MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:exactMatch DOID:0080436 developmental and epileptic encephalopathy 4 semapv:ManualMappingCuration 2024-02-18 MONDO:0012824 hypomyelinating leukodystrophy 4 skos:exactMatch DOID:0060789 hypomyelinating leukodystrophy 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:exactMatch DOID:6496 extraskeletal myxoid chondrosarcoma semapv:ManualMappingCuration 2023-03-17 MONDO:0012830 chromosome 10q23 deletion syndrome skos:exactMatch DOID:0060389 chromosome 10q23 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:exactMatch DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:exactMatch DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 semapv:ManualMappingCuration 2024-02-18 MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:exactMatch DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 semapv:ManualMappingCuration 2024-02-18 MONDO:0012856 Birk-Barel syndrome skos:exactMatch DOID:0050675 Birk-Barel syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012859 autosomal recessive osteopetrosis 7 skos:exactMatch DOID:0110946 autosomal recessive osteopetrosis 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:exactMatch DOID:0060428 SATB2-associated syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012866 hereditary spastic paraplegia 35 skos:exactMatch DOID:0110786 hereditary spastic paraplegia 35 semapv:ManualMappingCuration 2023-03-17 MONDO:0012867 hereditary spastic paraplegia 38 skos:exactMatch DOID:0110789 hereditary spastic paraplegia 38 semapv:ManualMappingCuration 2023-03-17 MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:exactMatch DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency semapv:ManualMappingCuration 2023-04-17 MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:exactMatch DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 semapv:ManualMappingCuration 2023-06-18 MONDO:0012876 heparin cofactor 2 deficiency skos:exactMatch DOID:0111901 heparin cofactor II deficiency semapv:ManualMappingCuration 2023-04-17 MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia semapv:ManualMappingCuration 2023-03-17 MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:exactMatch DOID:0080568 congenital disorder of glycosylation Iq semapv:ManualMappingCuration 2023-03-17 MONDO:0012895 torsion dystonia 17 skos:exactMatch DOID:0090042 torsion dystonia 17 semapv:ManualMappingCuration 2023-03-17 MONDO:0012897 congenital factor XI deficiency skos:exactMatch DOID:2229 factor XI deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:exactMatch DOID:0111427 restrictive cardiomyopathy 3 semapv:ManualMappingCuration 2024-02-18 MONDO:0012905 hypomyelinating leukodystrophy 6 skos:exactMatch DOID:0060798 hypomyelinating leukodystrophy 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch DOID:4183 pseudopseudohypoparathyroidism semapv:ManualMappingCuration 2023-03-17 MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:exactMatch DOID:0060411 chromosome 1q21.1 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:exactMatch DOID:0060435 chromosome 1q21.1 duplication syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch DOID:0060415 chromosome 2p16.1-p15 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012919 type 1 diabetes mellitus 20 skos:exactMatch DOID:0110757 type 1 diabetes mellitus 20 semapv:ManualMappingCuration 2023-04-17 MONDO:0012921 type 1 diabetes mellitus 22 skos:exactMatch DOID:0110759 type 1 diabetes mellitus 22 semapv:ManualMappingCuration 2023-11-19 MONDO:0012923 congenital generalized lipodystrophy type 3 skos:exactMatch DOID:0111137 congenital generalized lipodystrophy type 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:exactMatch DOID:0060412 chromosome 1q41-q42 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012928 hereditary spastic paraplegia 42 skos:exactMatch DOID:0110794 hereditary spastic paraplegia 42 semapv:ManualMappingCuration 2023-03-17 MONDO:0012929 Compton-North congenital myopathy skos:exactMatch DOID:0080101 Compton-North congenital myopathy semapv:ManualMappingCuration 2023-03-17 MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:ManualMappingCuration 2023-04-17 MONDO:0012941 inflammatory bowel disease 25 skos:exactMatch DOID:0110909 inflammatory bowel disease 25 semapv:ManualMappingCuration 2023-03-17 MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch DOID:0060202 amyotrophic lateral sclerosis type 11 semapv:ManualMappingCuration 2024-04-21 MONDO:0012947 intellectual disability, autosomal dominant 4 skos:exactMatch DOID:0070034 autosomal dominant intellectual developmental disorder 4 semapv:ManualMappingCuration 2023-11-19 MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:exactMatch DOID:0060422 chromosome 6pter-p24 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch DOID:0070035 autosomal dominant intellectual developmental disorder 5 semapv:ManualMappingCuration 2024-04-21 MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:exactMatch DOID:0060397 chromosome 15q26-qter deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:exactMatch DOID:0110565 autosomal dominant nonsyndromic deafness 3B semapv:ManualMappingCuration 2024-04-21 MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:exactMatch DOID:0110476 autosomal recessive nonsyndromic deafness 1B semapv:ManualMappingCuration 2024-04-21 MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:exactMatch DOID:0060641 endocrine-cerebro-osteodysplasia syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012981 hereditary spherocytosis type 4 skos:exactMatch DOID:0110919 hereditary spherocytosis type 4 semapv:ManualMappingCuration 2024-04-21 MONDO:0012982 episodic ataxia type 6 skos:exactMatch DOID:0050994 episodic ataxia type 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0012983 cone-rod dystrophy 12 skos:exactMatch DOID:0111019 cone-rod dystrophy 12 semapv:ManualMappingCuration 2024-04-21 MONDO:0012984 PHARC syndrome skos:exactMatch DOID:0080181 PHARC syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:exactMatch DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria semapv:ManualMappingCuration 2023-03-17 MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:exactMatch DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia semapv:ManualMappingCuration 2023-03-17 MONDO:0012991 Kahrizi syndrome skos:exactMatch DOID:0050807 Kahrizi syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:exactMatch DOID:0111168 sepiapterin reductase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012996 AGAT deficiency skos:exactMatch DOID:0050712 AGAT deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch DOID:0050799 guanidinoacetate methyltransferase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0013005 EAST syndrome skos:exactMatch DOID:0060484 EAST syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch DOID:0060874 isolated growth hormone deficiency type IB semapv:ManualMappingCuration 2023-03-17 MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:ManualMappingCuration 2023-04-17 MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:ManualMappingCuration 2023-04-17 MONDO:0013011 atrial septal defect 5 skos:exactMatch DOID:0110110 atrial heart septal defect 5 semapv:ManualMappingCuration 2024-04-21 MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch DOID:0110912 leukocyte adhesion deficiency 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0013017 hypotrichosis 5 skos:exactMatch DOID:0110702 hypotrichosis 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:exactMatch DOID:0060424 chromosome 6q24-q25 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0013026 subepithelial mucinous corneal dystrophy skos:exactMatch DOID:0060454 subepithelial mucinous corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0013027 posterior amorphous corneal dystrophy skos:exactMatch DOID:0060452 posterior amorphous corneal dystrophy semapv:ManualMappingCuration 2023-03-17 MONDO:0013030 dilated cardiomyopathy 1BB skos:exactMatch DOID:0110458 dilated cardiomyopathy 1BB semapv:ManualMappingCuration 2024-02-18 MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 skos:exactMatch DOID:0111322 idiopathic generalized epilepsy 8 semapv:ManualMappingCuration 2024-04-21 MONDO:0013034 keratosis palmoplantaris striata 2 skos:exactMatch DOID:0081109 keratosis palmoplantaris striata 2 semapv:ManualMappingCuration 2023-04-17 MONDO:0013035 orofaciodigital syndrome XI skos:exactMatch DOID:0060381 orofaciodigital syndrome XI semapv:ManualMappingCuration 2023-03-17 MONDO:0013038 CLOVES syndrome skos:exactMatch DOID:0080351 CLOVES syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0013051 autosomal recessive cutis laxa type 2B skos:exactMatch DOID:0070137 autosomal recessive cutis laxa type IIB semapv:ManualMappingCuration 2023-03-17 MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:exactMatch DOID:0080349 developmental and epileptic encephalopathy 39 semapv:ManualMappingCuration 2023-03-17 MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch DOID:0081007 RNASET2-deficient cystic leukoencephalopathy semapv:ManualMappingCuration 2023-04-17 MONDO:0013060 autosomal recessive Parkinson disease 14 skos:exactMatch DOID:0060900 Parkinson's disease 14 semapv:ManualMappingCuration 2023-03-17 MONDO:0013061 myofibrillar myopathy 6 skos:exactMatch DOID:0080097 myofibrillar myopathy 6 semapv:ManualMappingCuration 2023-03-17 MONDO:0013062 long QT syndrome 12 skos:exactMatch DOID:0110653 long QT syndrome 12 semapv:ManualMappingCuration 2023-03-17 MONDO:0013065 premature ovarian failure 7 skos:exactMatch DOID:0080864 primary ovarian insufficiency 7 semapv:ManualMappingCuration 2024-04-21 MONDO:0013066 46,XY sex reversal 3 skos:exactMatch DOID:0111772 46,XY sex reversal 3 semapv:ManualMappingCuration 2023-11-19 MONDO:0013067 cataract 34 multiple types skos:exactMatch DOID:0110230 cataract 34 multiple types semapv:ManualMappingCuration 2024-04-21 MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:exactMatch DOID:0111437 optic atrophy 7 semapv:ManualMappingCuration 2023-03-17 MONDO:0013070 spermatogenic failure 7 skos:exactMatch DOID:0070173 spermatogenic failure 7 semapv:ManualMappingCuration 2024-02-18 MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:exactMatch DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 semapv:ManualMappingCuration 2024-04-21 MONDO:0013081 lymphoproliferative syndrome 1 skos:exactMatch DOID:0060707 lymphoproliferative syndrome 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:exactMatch DOID:0060408 chromosome 19q13.11 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:exactMatch DOID:0050719 cerebral folate receptor alpha deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch DOID:0080778 transient infantile liver failure semapv:ManualMappingCuration 2023-04-17 MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:exactMatch DOID:0080528 bronchiectasis 3 semapv:ManualMappingCuration 2024-04-21 MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:exactMatch DOID:0111518 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 semapv:ManualMappingCuration 2023-03-17 MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch DOID:0050549 Saldino-Noonan syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:exactMatch DOID:0110087 asphyxiating thoracic dystrophy 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0013130 isolated microphthalmia 4 skos:exactMatch DOID:0060836 isolated microphthalmia 4 semapv:ManualMappingCuration 2024-04-21 MONDO:0013131 polycystic kidney disease 2 skos:exactMatch DOID:0110859 polycystic kidney disease 2 semapv:ManualMappingCuration 2023-03-17 MONDO:0013132 hereditary spastic paraplegia 36 skos:exactMatch DOID:0110787 hereditary spastic paraplegia 36 semapv:ManualMappingCuration 2023-03-17 MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch DOID:0112131 severe congenital neutropenia 2 semapv:ManualMappingCuration 2023-06-18 MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:exactMatch DOID:0111903 thrombophilia due to HRG deficiency semapv:ManualMappingCuration 2023-04-17 MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch DOID:3755 antithrombin III deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0013147 dilated cardiomyopathy 1CC skos:exactMatch DOID:0110424 dilated cardiomyopathy 1CC semapv:ManualMappingCuration 2024-02-18 MONDO:0013148 Brugada syndrome 8 skos:exactMatch DOID:0110225 Brugada syndrome 8 semapv:ManualMappingCuration 2024-04-21 MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:exactMatch DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 semapv:ManualMappingCuration 2023-03-17 MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:exactMatch DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 semapv:ManualMappingCuration 2023-06-18 MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:exactMatch DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 semapv:ManualMappingCuration 2023-06-18 MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:exactMatch DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 semapv:ManualMappingCuration 2023-03-17 MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:exactMatch DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 semapv:ManualMappingCuration 2023-03-17 MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:exactMatch DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 semapv:ManualMappingCuration 2023-08-20 MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:exactMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:ManualMappingCuration 2023-06-18 MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:exactMatch DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O semapv:ManualMappingCuration 2023-03-17 MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:exactMatch DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N semapv:ManualMappingCuration 2023-03-17 MONDO:0013165 hereditary spastic paraplegia 45 skos:exactMatch DOID:0110797 hereditary spastic paraplegia 45 semapv:ManualMappingCuration 2023-03-17 MONDO:0013166 GABA aminotransaminase deficiency skos:exactMatch DOID:0060174 GABA aminotransferase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0013168 dilated cardiomyopathy 1DD skos:exactMatch DOID:0110447 dilated cardiomyopathy 1DD semapv:ManualMappingCuration 2024-02-18 MONDO:0013169 chromosome 5p13 duplication syndrome skos:exactMatch DOID:0060460 chromosome 5p13 duplication syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:exactMatch DOID:0070139 autosomal recessive cutis laxa type IC semapv:ManualMappingCuration 2023-03-17 MONDO:0013171 purine nucleoside phosphorylase deficiency skos:exactMatch DOID:5813 purine nucleoside phosphorylase deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0013173 intellectual disability, autosomal recessive 13 skos:exactMatch DOID:0081098 autosomal recessive intellectual developmental disorder 13 semapv:ManualMappingCuration 2023-06-18 MONDO:0013175 retinitis pigmentosa 50 skos:exactMatch DOID:0110396 retinitis pigmentosa 50 semapv:ManualMappingCuration 2024-04-21 MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:exactMatch DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:exactMatch DOID:0110640 congenital muscular dystrophy due to LMNA mutation semapv:ManualMappingCuration 2023-03-17 MONDO:0013179 hereditary spastic paraplegia 44 skos:exactMatch DOID:0110796 hereditary spastic paraplegia 44 semapv:ManualMappingCuration 2023-03-17 MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:exactMatch DOID:0060432 chromosome 17p13.3 duplication syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:exactMatch DOID:0060776 congenital diarrhea 5 with tufting enteropathy semapv:ManualMappingCuration 2023-03-17 MONDO:0013186 Noonan syndrome 6 skos:exactMatch DOID:0060584 Noonan syndrome 6 semapv:ManualMappingCuration 2024-04-21 MONDO:0013189 trichotillomania skos:exactMatch DOID:0050587 trichotillomania semapv:ManualMappingCuration 2023-11-19 MONDO:0013191 focal segmental glomerulosclerosis 5 skos:exactMatch DOID:0111130 focal segmental glomerulosclerosis 5 semapv:ManualMappingCuration 2024-04-21 MONDO:0013195 hypertrophic cardiomyopathy 13 skos:exactMatch DOID:0110319 hypertrophic cardiomyopathy 13 semapv:ManualMappingCuration 2023-04-17 MONDO:0013196 Lynch syndrome 8 skos:exactMatch DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 semapv:ManualMappingCuration 2023-03-17 MONDO:0013197 hypertrophic cardiomyopathy 14 skos:exactMatch DOID:0110320 hypertrophic cardiomyopathy 14 semapv:ManualMappingCuration 2024-04-21 MONDO:0013198 dilated cardiomyopathy 1EE skos:exactMatch DOID:0110453 dilated cardiomyopathy 1EE semapv:ManualMappingCuration 2024-02-18 MONDO:0013200 hypertrophic cardiomyopathy 15 skos:exactMatch DOID:0110321 hypertrophic cardiomyopathy 15 semapv:ManualMappingCuration 2024-04-21 MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:exactMatch DOID:0080536 hypermanganesemia with dystonia 1 semapv:ManualMappingCuration 2023-03-17 MONDO:0013211 dilated cardiomyopathy 1FF skos:exactMatch DOID:0110459 dilated cardiomyopathy 1FF semapv:ManualMappingCuration 2024-02-18 MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:exactMatch DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N semapv:ManualMappingCuration 2023-03-17 MONDO:0013220 hemochromatosis type 2B skos:exactMatch DOID:0111032 hemochromatosis type 2B semapv:ManualMappingCuration 2023-03-17 MONDO:0013222 Miyoshi muscular dystrophy 3 skos:exactMatch DOID:0070201 Miyoshi muscular dystrophy 3 semapv:ManualMappingCuration 2023-03-17 MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:exactMatch DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type semapv:ManualMappingCuration 2023-06-18 MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch DOID:0111138 congenital generalized lipodystrophy type 4 semapv:ManualMappingCuration 2023-03-17 MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:exactMatch DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0013239 hereditary spastic paraplegia 41 skos:exactMatch DOID:0110793 hereditary spastic paraplegia 41 semapv:ManualMappingCuration 2023-03-17 MONDO:0013240 maturity-onset diabetes of the young type 10 skos:exactMatch DOID:0111108 maturity-onset diabetes of the young type 10 semapv:ManualMappingCuration 2024-04-21 MONDO:0013241 spinocerebellar ataxia type 30 skos:exactMatch DOID:0050979 spinocerebellar ataxia type 30 semapv:ManualMappingCuration 2023-03-17 MONDO:0013247 Fanconi renotubular syndrome 2 skos:exactMatch DOID:0080758 Fanconi renotubular syndrome 2 semapv:ManualMappingCuration 2024-04-21 MONDO:0013252 Warsaw breakage syndrome skos:exactMatch DOID:0060535 Warsaw breakage syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0013254 microcephaly, seizures, and developmental delay skos:exactMatch DOID:0080457 microcephaly, seizures, and developmental delay semapv:ManualMappingCuration 2023-03-17 MONDO:0013256 chromosome 15q24 deletion syndrome skos:exactMatch DOID:0060395 chromosome 15q24 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0013266 intellectual disability, autosomal dominant 20 skos:exactMatch DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:ManualMappingCuration 2024-08-18 MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:exactMatch DOID:0060398 chromosome 16p11.2 deletion syndrome, 220-kb semapv:ManualMappingCuration 2023-03-17 MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch DOID:0081046 frontonasal dysplasia 2 semapv:ManualMappingCuration 2023-04-17 MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch DOID:0081047 frontonasal dysplasia 3 semapv:ManualMappingCuration 2023-04-17 MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:exactMatch DOID:0060392 chromosome 14q11-q22 deletion syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:exactMatch DOID:0060431 chromosome 16p13.3 duplication syndrome semapv:ManualMappingCuration 2023-03-17 MONDO:0013278 lymphatic malformation 3 skos:exactMatch DOID:0070208 hereditary lymphedema IC semapv:ManualMappingCuration 2024-04-21 MONDO:0013279 long QT syndrome 13 skos:exactMatch DOID:0110654 long QT syndrome 13 semapv:ManualMappingCuration 2023-03-17 MONDO:0013281 COG4-congenital disorder of glycosylation skos:exactMatch DOID:0070262 congenital disorder of glycosylation type IIj semapv:ManualMappingCuration 2023-03-17 MONDO:0013282 alpha 1-antitrypsin deficiency skos:exactMatch DOID:13372 alpha 1-antitrypsin deficiency semapv:ManualMappingCuration 2023-03-17 MONDO:0013284 immunodeficiency, common variable, 4 skos:exactMatch DOID:0081147 common variable immunodeficiency 4 semapv:ManualMappingCuration 2023-06-18 MONDO:0013286 immunodeficiency, common variable, 6 skos:exactMatch DOID:0081149 common variable immunodeficiency 6 semapv:ManualMappingCuration 2023-06-18 MONDO:0013291 glycogen storage disease XV skos:exactMatch DOID:0050579 glycogen storage disease XV semapv:ManualMappingCuration 2023-03-17 MONDO:0013292 chromosome 4q21 deletion