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
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 - -
05370 INFF infertility, female (INFF) - - 112 110 CDC20, EBAG9, NLRP5, OOEP, PANX1, TBPL2, TUBA1C, ZFP36L2 - -
03044 LIS3 lissencephaly, type 3 (LIS-3) 611603 AD 161 160 TUBA1A - -
07254 OZEMA24 oocyte/zygote/embryo maturation arrest, type 24 621232 AR - - TUBA1C - -
02214 SMAX2 atrophy, muscular, spinal, X-linked, type 2, infantile (SMAX-2, arthrogryposis multiplex congenita, distal, X-linked) 301830 XLR 1 1 UBA1 - -
05869 VEXAS vacuoles syndrome, E1 enzyme, X-linked, autoinflammatory, somatic - SMo - - UBA1 - -
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