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Barber-Say syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.
Uniprot Description A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.
Disease Ontology Description A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
Mondo Term and Equivalent IDs
MONDO:0008853:  Barber-Say syndrome
GARD:0000819: 
MESH:C537908: 
Orphanet:1231: 
SCTID:408537003: 
UMLS:C1319466: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)