All diseases

3 entries on 1 page. Showing entries 1 - 3.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02482 CCFDN cataracts, congenital, facial dysmorphism, and neuropathy (CCFDN) 604168 - 0 0 CTDP1 - -
00139 ID intellectual disability (ID) - - 936 815 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 519 more - -
02641 SCAN-1 ataxia, spinocerebellar, autosomal recessive with axonal neuropathy (SCAN-1) 607250 - 0 0 TDP1 - -
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