All diseases

16 entries on 1 page. Showing entries 1 - 16.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
06337 AIADK Autoinflammation with arthritis and dyskeratosis 617388 AD;AR - - NLRP1 - -
03858 CIDED dyskeratosis , corneal intraepithelial and ectodermal dysplasia (CIDED) 615225 AD - - NLRP1 - -
06790 DFNB109 ?Deafness, autosomal recessive 109 618013 AR - - ESRP1 - -
03051 FCAS2 autoinflammatory syndrome, cold, familial, type 2 (FCAS-2) 611762 AD - - NLRP12 - -
06280 IMD64 Immunodeficiency 64 618534 AR - - RASGRP1 - -
06390 JRRP ?Respiratory papillomatosis, juvenile recurrent, congenital 618803 AR - - NLRP1 - -
05789 KPA keratosis pilaris atrophicans (KPA) 604093 AR 1 1 LRP1 - -
01904 MDM Meleda disease 248300 AR 37 37 SLURP1 - -
00479 OCA3 albinism, oculocutaneous, type III (OCA-3) 203290 AR 8 7 TYRP1 - -
03367 OCMD dystrophy, macular, occult (OCMD) 613587 AD 40 39 RP1L1 - -
05741 OPDM myopathy, oculopharyngodistal (OPDM) - - 60 43 GIPC1, LRP12, NOTCH2NLC, RILPL1 - -
05742 OPDM1 myopathy, oculopharyngodistal, type 1 (OPDM1) 164310 AD;AR - - LRP12 - -
01541 RP1 retinitis pigmentosa, type 1 (RP1) 180100 AD;AR - - RP1 - -
06802 RP88 retinitis pigmentosa, type 88 618826 AR - - RP1L1 - -
00480 SHEP11 pigmentation, eyes, blue/non-blue, type 11 (SHEP-11, Melanesian blond hair, skin/hair/eye pigmentation) 612271 - - - TYRP1 - -
02589 VAMAS1 Vitiligo-associated multiple autoimmune disease susceptibility 1 606579 - - - NLRP1 - -
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