You are using an outdated browser. Please upgrade your browser to improve your experience.

oculotrichoanal syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis.
Mondo Term and Equivalent IDs
MONDO:0009560:  oculotrichoanal syndrome
GARD:0003395: 
MESH:C536022: 
Orphanet:2717: 
SCTID:703539006: 
UMLS:C1855425: