Visualize Submit Comment

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	GARD:2082 NCI:C125699 OMIM:130050 ORDO:286
Subsets	DO_rare_slim NCIthesaurus
Synonyms	autosomal dominant type IV Ehlers-Danlos syndrome [EXACT]
Parent Relationships	is_a Ehlers-Danlos syndrome is_a autosomal dominant disease