All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00606 - mitochondrial respiratory chain complex II deficiency 252011 AR 1 1 SDHA, SDHAF1, SDHD - -
00607 CMD1GG cardiomyopathy, dilated, type 1GG (CMD-1GG) 613642 AR - - SDHA - -
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 - -
00038 LS Leigh syndrome (LS) 256000 AR;Mi 72 62 BCS1L, C17orf89, COX10, COX15, FASTKD5, FOXRED1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1 - -
02382 PGL2 paragangliomas, type 2 (PGL-2) 601650 AD - - SDHAF2 - -
00608 PGL5 paragangliomas, type 5 (PGL-5) 614165 AD - - SDHA - -
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