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
04201 SCAR ataxia, spinocerebellar, autosomal recessive - AR 57 57 TDP2, VWA3B - -
05685 SCAR23 ataxia, spinocerebellar, autosomal recessive, type 23 (SCAR23) 616949 AR - - TDP2 - onset infancy-childhood, cerebellar ataxia (HP:0001251), cerebellar atrophy (HP:0001272), no peripheral neuropathy (-HP:0009830), no muscle weakness (-HP:0001324), developmental delay (HP:0001263), seizures (HP:0001250), no hyporeflexia (-HP:0001265), cognitive impairment (HP:0100543), no oculomotor apraxia (-HP:0000657), no dystonia (-HP:0001332)
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