OBO ID: DOID:0060549
Term Name: Barber-Say syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0060549 )
Relationships
is a type of:
OTHER Barber-Say syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TWIST2 Barber-Say syndrome 209885
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)
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