raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:79407

Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type

inactive · moved to ORPHA:231568Autosomal dominant generalized dystrophic epidermolysis bullosa

Synonyms: DDEB, Cockayne-Touraine 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

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAutosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine typeDDEB, Cockayne-Touraine type
frEpidermolyse bulleuse dystrophique autosomique dominante type Cockayne-Touraine
deEpidermolysis bullosa, dystrophe, autosomal-dominante, Typ Cockayne-TouraineDEB Typ Cockayne-Touraine
esEpidermólisis ampollosa distrófica autosómica dominante tipo Cockayne-Touraine
itEpidermolisi bollosa distrofica, autosomica dominante, tipo Cockayne-TouraineDDEB, tipo Cockayne-Touraine
nlAutosomaal dominante dystrofische epidermolysis bullosa, Cockayne-Touraine-typeDDEB, Cockayne-Touraine-type
ptEpidermólise bolhosa distrófica, autossómica dominante
plAutosomalne dominujące dystroficzne pęcherzowe oddzielanie się naskórka, typ Cockayne'a i Touraine'aDDEB, typ Cockayne'a i Touraine'a
csAutozomálně dominantní dystrofická epidermolysis bullosa, Cockayneho-Touraineho typDDEB, Cockayneho-Touraineho typ · Autozomálně dominantní dystrofická epidermolysis bullosa, Cockayne-Touraineho typ · DDEB, Cockayne-Touraineho typ
ukАутосомно-домінантний дистрофічний бульозний епідермоліз, тип Кокейна-ТуренаDDEB, тип Кокейна-Турена
zh常染色体显性遗传营养不良大疱性表皮松解症,Cockayne-Touraine型DDEB, Cockayne-Touraine 型
trOtozomal dominant distrofik epidermolizis bülloza, Cockayne-Touraine tipiDDEB, Cockayne-Touraine tipi
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Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

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Sources for this card