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
06324 EPEO2 epilepsy, early-onset, type 2, with/without developmental delay 618832 AD - - SETD1A - -
07174 NEDSID neurodevelopmental disorder with speech impairment and dysmorphic facies 619056 AD - - SETD1A - intellectual disability (14/15), developmental delay (14/15), speech delay (14/14), motor delay (13/14), behavioral/psychiatric abnormalities (14/15), sleep disturbance (7/12), hypotonia (9/15), seizures (3/15), joint hypermobility (7/13), gastrointestinal abnormalities (8/12), craniofacial dysmorphisms (15/15)
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