Vascular Type Ehlers-Danlos Syndrome
Disease ID: disease_node_18757
Connections displayed (default: 10).
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| Dbxref | GARD:2082, MIM:130050, NCI:C125699, ORDO:286 |
|---|---|
| Subclassof | DOID_0050736, DOID_13359 |
| Data Source | DOID |
| Synonyms | Ehlers-Danlos syndrome type 4, Ehlers-Danlos syndrome type IV, autosomal dominant type IV Ehlers-Danlos syndrome |
| Doid Label | vascular type Ehlers-Danlos syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18757 |
| Doid Id | DOID_14756 |
| Label | Vascular Type Ehlers-Danlos Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome(ID:disease_node_2744) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)