Human genes for vascular type Ehlers-Danlos syndrome
Vascular type Ehlers-Danlos syndrome [DOID:14756]
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.
Synonyms: vascular type Ehlers-Danlos syndrome, DOID:14756, vascular type EhlersDanlos syndrome, vascular type Ehlers-Danlos disease, vascular type Ehlers-Danlos disorder ...
Linkouts: OMIM