Mondo Description Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.
Uniprot Description A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas.
Mondo Term and Equivalent IDs
MONDO:0017314: Ehlers-Danlos syndrome, vascular type
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0002082
NCIT:C125699
Orphanet:286
SCTID:17025000
MONDO:0017314
High level summary of knowledge for a disease, including descriptions and datasource references.