All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
04273 ICF immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) - - 3 3 CDCA7, DNMT3B, HELLS, ZBTB24 - -
00622 ICF2 immunodeficiency-centromeric instability-facial anomalies syndrome, type 2 (ICF-2) 614069 AR 15 14 ZBTB24 - -
00139 ID intellectual disability (ID) - - 2706 2388 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
05070 PRIMS Primrose syndrome (PRIMS) 259050 AD 12 12 ZBTB20 - autosomal dominant; recognizable facial features, macrocephaly, mental retardation, enlarged and calcified external ears, sparse body hair, distal muscle wasting
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