Term Name: | vascular type Ehlers-Danlos syndrome |
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Synonyms: | autosomal dominant type IV 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. |
Ontology: | Human Disease [DOID:14756] ( DOID:14756 ) |