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Summary Literature (0)
DOID:0060549 - Barber-Say syndrome

Disease Ontology 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.

Synonyms:

Xenbase Genes : twist2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008853 - Barber-Say syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)