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Generalized Dominant Dystrophic Epidermolysis Bullosa (MONDO:0007549)

Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.

Overview

Category

integumentary system disorder

Ontology ID

MONDO:0007549

Internal:8929

Synonyms

DDEB, Pasini and Cockayne-Touraine types

DDEB, generalised

DDEB, generalized

DDEB-gen

autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types

epidermolysis bullosa dystrophica, AD

Albopapuloid dominant dystrophic epidermolysis bullosa

DDEB

autosomal dominant dystrophic epidermolysis bullosa

dominant dystrophic epidermolysis bullosa

dominant dystrophic epidermolysis bullosa, generalised

dominant dystrophic epidermolysis bullosa, generalized

dystrophic epidermolysis bullosa, autosomal dominant

epidermolysis bullosa dystrophica with subcorneal cleavage

epidermolysis bullosa dystrophica, Cockayne-Touraine type

epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)

epidermolysis bullosa dystrophica, Pasini type

epidermolysis bullosa dystrophica, Pasini type (formerly)

epidermolysis bullosa dystrophica, autosomal dominant

Mapped terms

DOID:0080224

GARD:0002139

ICD9:757.39

MEDGEN:140935

OMIM:131750

Orphanet:231568

SCTID:75875004

UMLS:C0432322

Child terms

Unknown children.

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