All diseases

22 entries on 1 page. Showing entries 1 - 22.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01282 - Dermatopathia pigmentosa reticularis 125595 AD - - KRT14 - -
01310 - epidermolysis bullosa, simplex, simplex, Weber-Cockayne type 131800 AD - - ITGB4, KRT14, KRT5 - -
01312 - Epidermolysis bullosa simplex, Koebner type 131900 AD - - KRT14, KRT5 - -
01568 - Steatocystoma multiplex 184500 AD - - KRT17 - -
04551 - cirrhosis, cryptogenic, susceptibility to 215600 AR - - KRT18, KRT8 - -
02677 CIEHK ichthyosis, cyclic, with epidermolytic hyperkeratosis 607602 AD 51 51 KRT1, KRT10 - -
02829 CRIE;IWC erythroderma, ichthyosiform, congenital reticular (CRIE, ichthyosis with confetti (IWC)) 609165 AD - - KRT10 - -
02335 EBSB1 epidermolysis bullosa simplex, autosomal recessive, type 1 (EBSB-1) 601001 AR 3 3 KRT14, KRT5 - -
01309 EBSDM Epidermolysis bullosa herpetiformis, Dowling-Meara 131760 AD 1 1 KRT14, KRT5 - -
01216 EHK;BIE epidermolytic hyperkeratosis (EHK, bullous ichthyosiform erythroderma (BIE)) 113800 AD;AR - - KRT1, KRT10 - -
01379 EPPK keratoderma, palmoplantar, epidermolytic (EPPK) 144200 AD 79 79 KRT1, KRT9 - -
03226 FNEPPK1 keratoderma, palmoplantar, nonepidermolytic, focal, type 1 (FNEPPK-1) 613000 AD - - KRT16 - -
01394 IHCM ichthyosis hystrix, Curth-Macklin type (IHCM) 146590 AD 5 5 KRT1 - -
01268 MECD dystrophy, corneal, Meesmann - AD 23 23 KRT12, KRT3 - -
07043 MECD1 dystrophy, corneal, Meesmann, type 1 122100 AD - - KRT12 - -
02326 NEPPK keratoderma, palmoplantar, nonepidermolytic (NEPPK) 600962 AD 6 6 KRT1 - -
01460 NFJS Naegeli-Franceschetti-Jadassohn syndrome 161000 AD - - KRT14 - -
05989 PC pachyonychia congenita - - 262 262 KRT17, KRT6A, KRT6B, KRT6C - -
01485 PC1 pachyonychia congenita, type 1 167200 AD - - KRT16 - -
01486 PC2 pachyonychia congenita, type 2 167210 AD - - KRT17 - -
02686 PPKS3 keratosis palmoplantaris striata, type 3 (PPKS-3) 607654 - 1 1 KRT1 - -
04085 WSN2 white sponge nevus 2 615785 AD 6 6 KRT13 - -
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