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branchiooculofacial syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
Uniprot Description A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies.
Disease Ontology Description An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts.
Mondo Term and Equivalent IDs
MONDO:0007235:  branchiooculofacial syndrome
GARD:0003212: 
Orphanet:1297: 
SCTID:449821007: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)