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
00029 HDBSCC hemorrhagic destruction of the brain, subependymal calcification, cataracts (HDBSCC) 613730 AR 4 - JAM3 - onset neonatal; microcephaly; cataracts; no facial dysmorphisms; severe developmental delay; seizures; spasticity; hypotonia; intracranial calcifications; intracranial hemorrhage; ventriculomegaly; corpus callosum anomalies; hepatomegaly; rare renal anomalies
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 - -
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