OBO ID: DOID:14756
Term Name: vascular type Ehlers-Danlos syndrome Search Ontology:
Synonyms:
  • 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. https://pubmed.ncbi.nlm.nih.gov/21637106/
References:
Ontology: Human Disease   ( DOID:14756 )
OTHER vascular type Ehlers-Danlos syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL3A1 Ehlers-Danlos syndrome, vascular type
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None