All diseases

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

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00036 BJS Bjornstad syndrome (BJS) 262000 0 0 BCS1L - -
00039 GRACILE GRACILE syndrome 603358 0 0 BCS1L - -
00139 ID intellectual disability (ID) - 435 368 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 516 more - -
00038 LS Leigh syndrome (LS) 256000 14 14 BCS1L, COX10, COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1 - -
00037 MC3DN-1 mitochondrial complex III deficiency, nuclear, type 1 (MC3DN-1)] 124000 2 1 BCS1L, UQCRC2 - -