Search Ontology:
Human Disease

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. https://www.ncbi.nlm.nih.gov/pubmed/27196381
References
Ontology
Human Disease   ( DOID:0060549 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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