| Metadata | |
|---|---|
| ID | DOID:14756 |
| Name | vascular type Ehlers-Danlos syndrome |
| Definition | An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. https://pubmed.ncbi.nlm.nih.gov/21637106/ |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
autosomal dominant type IV Ehlers-Danlos syndrome [EXACT] Ehlers-Danlos syndrome type 4 [EXACT] Ehlers-Danlos syndrome type IV [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |