Barber-Say syndrome

Term ID

DOID:0060549

Synonyms

Definition

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. (2)

References

• GARD:819
• MESH:C537908
• OMIM:209885
• ORDO:1231
• SNOMEDCT_US_2023_03_01:408537003
• UMLS_CUI:C1319466

Ontology

Human Disease   ( DOID:0060549 )