All diseases

2 entries on 1 page. Showing entries 1 - 2.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
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 - -
01923 PTORCH1 Ppseudo-TORCH syndrome 1 251290 AR 1 1 OCLN - onset neonatal; microcephaly; rare cataracts; facial dysmorphisms (long philtrum, microretrognathia, low-set ears, anteverted nares, high arched palate); severe developmental delay; seizures; spasticity; hypotonia; intracranial calcifications; no intracranial hemorrhage; ventriculomegaly; corpus callosum anomalies; hepatomegaly; rare renal anomalies
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