ORPHA:216989
Autosomal dominant dystrophic epidermolysis bullosa, Pasini type
inactive · moved to ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosa
Synonyms: DDEB, Pasini type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant generalized dystrophic epidermolysis bullosa
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant dystrophic epidermolysis bullosa, Pasini type | DDEB, Pasini type |
| fr | Epidermolyse bulleuse dystrophique autosomique dominante, type Pasini | EBDD type Pasini |
| de | Epidermolysis bullosa, dystrophe, autosomal-dominante, Typ Pasini | |
| es | Epidermólisis ampollosa distrófica autosómica dominante tipo Pasini | Epidermólisis bullosa distrófica autosómica dominante tipo Pasini |
| it | Epidermolisi bollosa distrofica, autosomica dominante, tipo Pasini | DDEB, tipo Pasini |
| nl | Autosomale dominante dystrofische epidermolysis bullosa, Pasini-type | DDEB, Pasini-type |
| pt | Epidermólise bolhosa distrófica autossómica dominante, tipo Pasini | |
| pl | Autosomalne dominujące pęcherzowe oddzielanie się naskórka postać dystroficzna, typ Pasiniego | DDEB, typ Pasiniego |
| cs | Autozomálně dominantní epidermolysis bullosa, Pasiniho typ | DDEB, Pasiniho typ |
| uk | Аутосомно-домінантний бульозний дистрофічний епідермоліз, тип Пасіні | DDEB, тип Пазіні |
| zh | Pasini型常染色体显性遗传营养不良大疱性表皮松解 | Pasini型DDEB |
| tr | Otozomal dominant distrofik epidermolizis bülloza, Pasini tipi | DDEB, Pasini tipi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C0432322 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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/216989
- This record as JSON: /data/d/216989.json