| Metadata | |
|---|---|
| ID | DOID:0060549 |
| Name | Barber-Say syndrome |
| 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://rarediseases.info.nih.gov/gard/819/barber-say-syndrome/resources/1, https://www.ncbi.nlm.nih.gov/pubmed/27196381 |
| Xrefs |
SNOMEDCT_US_2023_03_01:408537003 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a syndrome |