OBO ID: DOID:14756 |
Term Name: | vascular type Ehlers-Danlos syndrome | Search Ontology: | |
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Synonyms: |
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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/ | ||
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Ontology: | Human Disease ( DOID:14756 ) |
OTHER vascular type Ehlers-Danlos syndrome PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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COL3A1 | Ehlers-Danlos syndrome, vascular type |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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