vascular type Ehlers-Danlos syndrome

Summary

DOID:14756 - vascular type Ehlers-Danlos syndrome

Disease Ontology 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.

Synonyms: autosomal dominant type IV Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type 4, Ehlers-Danlos syndrome type IV

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: col3a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007524 - dense mesenchyme tissue

MONDO:0007524 - dense mesenchyme tissue

MIM:

MIM:130050 - EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC

MIM:130050 - EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Ehlers-Danlos syndrome (is_a)