All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
06807 CMT4K Charcot-Marie-Tooth disease, type 4K 616684 AR - - SURF1 - -
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 - -
01740 MC4DN mitochondrial complex IV deficiency (MCDN4) - - 17 17 APOPT1, COA5, COX10, COX14, COX20, COX5A, COX6A2, COX6B1, FASTKD2, PET100, SCO1, SURF1, TACO1 - -
05955 MC4DN1 mitochondrial complex IV deficiency, nuclear, type 1 (MC4DN1) 220110 AR;Mi - - SURF1 - -
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