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deaf blind hypopigmentation syndrome, Yemenite type

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.
Mondo Term and Equivalent IDs
MONDO:0011133:  deaf blind hypopigmentation syndrome, Yemenite type
GARD:0005535: 
MESH:C536771: 
Orphanet:3214: 
SCTID:721084001: 
UMLS:C1866425: