Search Ontology:
Human Disease
Barber-Say syndrome
- Term ID
- DOID:0060549
- Synonyms
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- 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
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- GARD:819
- MESH:C537908
- MIM:209885
- ORDO:1231
- SNOMEDCT_US_2023_03_01:408537003
- UMLS_CUI:C1319466
- Ontology
- Human Disease ( DOID:0060549 )
- is a type of
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Genes Involved
Zebrafish Models