All diseases

9 entries on 1 page. Showing entries 1 - 9.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
06140 AI3C amelogenesis imperfecta, type IIIC 618386 AR 3 3 RELT - -
02577 AVSD2 septal defect, atrioventricular, type 2 (AVSD-2) 606217 AD - - CRELD1 - -
06137 CMCU ?Mucocutaneous ulceration, chronic 618287 AD - - RELA - -
04645 ETL7 epilepsy, temporal lobe, familial, type 7 (ETL-7) 616436 AD 1 1 RELN - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
06424 IMD53 ?Immunodeficiency 53 617585 AR - - RELB - -
01978 LIS2 lissencephaly, type 2 (LIS-2) 257320 AR 1 1 RELN - -
03595 MCVD myopia, high, with cataract and vitreoretinal degeneration 614292 AR 1 - LEPREL1 - -
01105 MRD4 mental retardation, autosomal dominant, type 4 (MRD-4) 612581 - - - KIRREL3 - -
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