All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05519 AOA ataxia-oculomotor apraxia (AOA) - - 15 14 APTX, PIK3R5, PNKP, SETX - -
04616 AOA4 ataxia-oculomotor apraxia, type 4 (AOA-4) 616267 AR - - PNKP - onset infancy-adulthood, 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), oculomotor apraxia (HP:0000657), dystonia (HP:0001332)
02557 CMT2B2 Charcot-Marie-Tooth disease, axonal, type 2B2 605589 AR 2 2 PNKP - onset adulthood, 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), no cognitive impairment (-HP:0100543), no dystonia (-HP:0001332)
00139 ID intellectual disability (ID) - - 2694 2376 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
03326 MCSZ;EIEE10 microcephaly, seizures, and developmental delay (MCSZ, encephalopathy, epileptic, early infantile, type 10) 613402 AR 7 7 PNKP - onset infancy, no cerebellar ataxia (-HP:0001251), no 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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