FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term Barber-Say syndrome ID (Ontology) DOID:0060549 (Human Disease)
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.
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 Barber-Say syndrome       1
 for disease ribbon | Barber-Say syndrome       1
 model of | Barber-Say syndrome       1
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       |__Barber-Say syndrome  1 rec.
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GARD:819
MESH:C537908
MIM:209885
ORDO:1231
SNOMEDCT_US_2023_03_01:408537003
UMLS_CUI:C1319466