| Metadata | |
|---|---|
| ID | DOID:14720 |
| Name | Ehlers-Danlos syndrome classic type 1 |
| Definition | An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/28306229/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:83470009 |
| Subsets |
NCIthesaurus |
| Synonyms |
Ehlers-Danlos syndrome, type 1 [EXACT] type I Ehlers-Danlos syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |