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
00165 ARH hypercholesterolemia, familial, autosomal recessive (ARH) 603813 - 0 0 LDLRAP1 - -
05599 CAMRQ ataxia, cerebellar, mental retardation, quadrupedal locomotion (CAMRQ) - - 14 14 ATP8A2, CA8, VLDLR, WDR81 - -
00802 CAMRQ-1 ataxia, cerebellar, mental retardation, quadrupedal locomotion, type 1 (CAMRQ-1) 224050 - 1 1 VLDLR - -
00174 FH hypercholesterolemia, familial (FH) - AD 2948 2936 ABCA1, APOA2, EPHX2, GHR, ITIH4, LDLR, PPP1R17 - -
05708 FHCL1 hypercholesterolemia, familial, type 1 (FHCL1) 143890 AD 0 0 APOA2, EPHX2, GHR, LDLR - -
00139 ID intellectual disability (ID) - - 1518 1256 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 529 more - -
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