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
04122 BDPLT18 bleeding disorder, platelet type 18 (BDPLT-18) 615888 AR - - RASGRP2 - -
00569 DBS Donnai-Barrow syndrome (DBS) 222448 AR 2 2 LRP2 - -
00139 ID intellectual disability (ID) - - 2708 2390 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 554 more - -
07112 OZEMA18 oocyte/zygote/embryo maturation arrest, type 18 620332 AR 1 1 NLRP2 - -
02261 RP2 retinitis pigmentosa, type 2 (RP2) 312600 XL - - RP2 - -
05426 XLRP retinitis pigmentosa, X-linked (XLRP) - - 23 23 RP2, RPGR - -
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