Cataract-multisystem syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE FACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION
C1832812MESH:C563390
MAF Unknown — CTD Disgenet
CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1
301108C5829571MONDO:0958178
DKC1 Causal — ClinVar Disgenet HPO
CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2
620425C5830590MONDO:0958193
NOP10 Causal — ClinVar Disgenet HPO