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 AR - - CTDP1 - -
00139 ID intellectual disability (ID) - - 2799 2480 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
02641 SCAN1 ataxia, spinocerebellar, autosomal recessive with axonal neuropathy (SCAN-1) 607250 AR - - TDP1 - onset childhood, cerebellar ataxia (HP:0001251), cerebellar atrophy (HP:0001272), peripheral neuropathy (HP:0009830), distal muscle weakness (HP:0002460), no developmental delay (-HP:0001263), no seizures (-HP:0001250), hyporeflexia (HP:0001265), cognitive impairment (HP:0100543), no oculomotor apraxia (-HP:0000657),no dystonia (-HP:0001332)
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