All diseases

7 entries on 1 page. Showing entries 1 - 7.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01404 - keratoderma palmoplantar, deafness 148350 AD 1 1 GJB2 - -
02432 - Hystrix-like ichthyosis with deafness 602540 AD - - GJB2 - -
01409 BAPS Bart-Pumphrey syndrome 149200 AD - - GJB2 - -
02371 DFNA3A deafness, autosomal dominant, type 3A (DFNA-3A) 601544 AD 1 - GJB2 - -
01745 DFNB1A deafness, autosomal recessive, type 1A (DFNB-1A, incl. di-genic) 220290 AR;DD 6 7 GJB2, GJB3, GJB6 - -
01403 KIDAD keratitis-ichthyosis-deafness syndrome, autosomal dominant 148210 AD 3 3 GJB2 - -
01276 VOWNKL Vohwinkel syndrome 124500 AD - - GJB2 - -
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