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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
vascular type Ehlers-Danlos syndrome
Summary
- Synonym
-
- autosomal dominant type IV 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.
- Super Class
- Ehlers-Danlos syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:14756
- Mondo Disease Ontology
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
