All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01358 - hawkinsinuria 140350 AD 0 0 HPD - -
00139 ID intellectual disability (ID) - - 2195 1894 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 540 more - -
05861 NEDSWMA neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) 619026 AR 3 3 HPDL - -
00325 SPG paraplegia, spastic (SPG) - - 87 85 CAPN1, HPDL, SPG11, TECPR2 - -
05860 SPG83 paraplegia, spastic, type 83, autosomal recessive (SPG83) 619027 AR 2 2 HPDL - -
02113 TYRSN3 tyrosinemia, type III (TYRSN-3) 276710 AR 0 0 HPD - -
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