Disease Term Disease ID Gene Symbol Classification References Source
KERATITIS, ICHTHYOSIS, AND DEAFNESS SYNDROME GJB2 Unknown CTD
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME GJB2 Unknown Disgenet
GJB6 Unknown Disgenet
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT GJB2 Unknown HPO
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE AP1B1 Unknown HPO