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COFS syndrome

Disease Summary
Associated Targets (10)
Tbio

6

Tchem

4


GARD Rare
Mondo Description Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement.
Mondo Term and Equivalent IDs
MONDO:0008926:  COFS syndrome
DC:0000076: 
GARD:0006027: 
NCIT:C3817: 
OMIMPS:214150: 
Orphanet:1466: 
UMLS:C0220722: