Term Name: vascular type Ehlers-Danlos syndrome
Synonyms: autosomal dominant type IV Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type 4, Ehlers-Danlos syndrome type IV
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 )

Relationships
is a type of: autosomal dominant disease Ehlers-Danlos syndrome