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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/27196381 http://purl.obolibrary.org/obo/ECO_0007645 ]
Term information
- MESH:C537908
- GARD:819
- UMLS_CUI:C1319466
- SNOMEDCT_US_2023_03_01:408537003
- MIM:209885
- ORDO:1231
DO_rare_slim