ORPHA:230845
Vascular-like classical Ehlers-Danlos syndrome
inactive · moved to ORPHA:287Classical Ehlers-Danlos syndrome
Synonyms: COL1A1-cEDS · Classic EDS-like with a propensity for arterial rupture · Classical EDS due to COL1A1 p.(Arg312Cys) · Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys) · Vascular-like classical EDS
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Classical Ehlers-Danlos syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vascular-like classical Ehlers-Danlos syndrome | COL1A1-cEDS · Classic EDS-like with a propensity for arterial rupture · Classical EDS due to COL1A1 p.(Arg312Cys) · Classical Ehlers-Danlos syndrome due to COL1A1 p.(Arg312Cys) · Vascular-like classical EDS |
| fr | Syndrome d'Ehlers-Danlos classique type vasculaire-like | COL1A1-cEDS · SED classique dû à COL1A1 p.(Arg312Cys) · SED classique type vasculaire-like · SED classique-like avec propension à la rupture artérielle · Syndrome d'Ehlers-Danlos classique dû à COL1A1 p.(Arg312Cys) |
| de | Klassisches Ehlers-Danlos-Syndrom, ähnlich vaskulärer Typ | COL1A1-cEDS · EDS, ähnlich vaskulärer Typ · Klassisches EDS durch p.(Arg312Cys) im COL1A1-Gen · Klassisches EDS mit Neigung zu Arterienruptur · Klassisches Ehlers-Danlos-Syndrom durch COL1A1 p.(Arg312Cys) |
| es | Síndrome de Ehlers-Danlos clásico similar al vascular | SED clásico asociado a COL1A1 · SED clásico por COL1A1 p.(Arg312Cys) · SED clásico similar al vascular · SED similar al clásico con propensión a ruptura arterial · Síndrome de Ehlers-Danlos clásico por COL1A1 p.(Arg312Cys) |
| it | Sindrome di Ehlers-Danlos, tipo simil-vascolare | EDS, tipo simil-vascolare |
| nl | Vasculair-achtig klassiek syndroom van Ehlers-Danlos | COL1A1-cEDS · Klassiek EDS door COL1A1 p.(Arg312Cys) · Klassiek syndroom van Ehlers-Danlos door COL1A1 p.(Arg312Cys) · Klassiek-gelijkend EDS met neiging voor slagaderruptuur · Vasculair-achtig klassiek EDS |
| pt | Síndrome de Ehlers-Danlos, tipo vascular-like | |
| pl | Zespół Ehlersa i Danlosa, typ podobny do naczyniowego | EDS, typ podobny do naczyniowego |
| cs | Ehlersův-Danlosův syndrom, typ podobný vaskulárnímu | EDS, typ podobný vaskulárnímu · Ehlers-Danlosův syndrom, typ podobný vaskulárnímu |
| uk | Судинний класичний синдром Елерса-Данлоса | Класичний EDS-синдром зі схильністю до артеріального розриву · Класичний EDS за рахунок COL1A1 p.(Arg312Cys) · Класичний синдром Елерса-Данлоса, обумовлений COL1A1 p.(Arg312Cys) · COL1A1-cEDS · Судиноподібний класичний EDS |
| zh | 血管样经典埃勒斯-当洛斯综合征 | COL1A1 基因p.(Arg312Cys)所致经典埃勒斯-当洛斯综合征 |
| tr | Vasküler-benzeri klasik Ehlers-Danlos sendromu | COL1A1-cEDS · Vasküler-benzeri klasik EDS · COL1A1 p. (Arg312Cys)'ye bağlı klasik EDS · Arteriyel yırtılma eğilimi olan klasik EDS benzeri · COL1A1 p.(Arg312Cys)'ye bağlı klasik Ehlers-Danlos sendromu |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Not placed in any Orphanet classification in this release.
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/230845
- This record as JSON: /data/d/230845.json