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
00139 ID intellectual disability (ID) - - 2752 2434 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 555 more - -
07145 MITCH Mitchell syndrome 618960 AD 5 4 ACOX1 - -
02032 peroxisomal acyl-CoA peroxisomal acyl-CoA oxidase deficiency 264470 Di 28 28 ACOX1 - 12/13 hypotonia (HP:0001252 ), 10/11 seizures (HP:0001250, 3/8 failure to thrive (HP:0001508), 7/9 2m-visual system failure (nystagmus, strabismus, failure to fixate objects, 3/8 impaired vision (HP:0000505), 10/13 hearing impairment (HP:0000365), 10/12 loss of motor achievements (HP:0033044), 5/10 hepatomegaly (HP:0002240), 5/10 external dysmorphia, 12/12 white matter abnormalities (HP:0002500), retinal pigmentary changes (HP:0007703)/retinal degeneration (HP:0000546), osteopenia (HP:0000938), 28m-mean age of regression(range 4-42m), 5y-mean age of death (range 4-10y)
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