About   Help   FAQ
Disease Ontology Browser
Barber-Say syndrome (DOID:0060549)
Alliance: disease page
Alt IDs: OMIM:209885, MESH:C537908, ORDO:1231, UMLS_CUI:C1319466
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.11
The Jackson Laboratory