generalized dominant dystrophic epidermolysis bullosa

Go to external page http://purl.obolibrary.org/obo/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. [ Orphanet:231568 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:131750 (Orphanet:231568)
  • ICD9:757.39 (i2s)
  • DOID:0080224 (MONDO:equivalentTo)
  • GARD:0002139 (Orphanet-shared)
  • Orphanet:231568 (OMIM:131750)
  • SCTID:75875004 (MONDO:equivalentTo)
  • ICD10:Q81.2 (Orphanet:231568)
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C0432322

http://linkedlifedata.com/resource/umls/id/C2675683

definition

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.

exactMatch

http://purl.obolibrary.org/obo/DOID_0080224

http://identifiers.org/snomedct/75875004

http://identifiers.org/omim/131750

http://www.orpha.net/ORDO/Orphanet_231568

has exact synonym

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

DDEB, generalized

DDEB, Pasini and Cockayne-Touraine types

DDEB-gen

has related synonym

autosomal dominant dystrophic epidermolysis bullosa

Albopapuloid dominant dystrophic epidermolysis bullosa

epidermolysis bullosa dystrophica, Pasini type (formerly)

DDEB

epidermolysis bullosa dystrophica, Cockayne-Touraine type

epidermolysis bullosa dystrophica, Pasini type

epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)

dominant dystrophic epidermolysis bullosa, generalized

epidermolysis bullosa dystrophica, autosomal dominant

epidermolysis bullosa dystrophica with subcorneal Cleavage

dominant dystrophic epidermolysis bullosa

dystrophic epidermolysis bullosa, autosomal dominant

id

MONDO:0007549