loading...| Preferred Name |
Barber-Say syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0060549 |
| database_cross_reference |
OMIM:209885 MESH:C537908 SNOMEDCT_US_2022_09_01:408537003 GARD:819 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. |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0060549 |
| in_subset | |
| label |
Barber-Say syndrome |
| notation |
DOID:0060549 |
| prefLabel |
Barber-Say syndrome |
| subClassOf |