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Junctional Epidermolysis Bullosa, Non-Herlitz Type (MONDO:0009180)

Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.

Overview

Category

integumentary system disorder

Ontology ID

MONDO:0009180

Internal:10423

Synonyms

JEN-nH

JEB-I

JEB-nH

epidermolysis bullosa Junctionalis, Disentis type

epidermolysis bullosa Junctionalis, non-Herlitz type

epidermolysis bullosa Junctionalis, progressive

epidermolysis bullosa Junctionalis, severe Nonlethal

epidermolysis bullosa, generalised atrophic benign

epidermolysis bullosa, generalized atrophic benign

epidermolysis bullosa, junctional, Localisata variant

epidermolysis bullosa, junctional, non-Herlitz type

junctional epidermolysis bullosa inversa

Mapped terms

GARD:0024652

ICD9:757.39

MEDGEN:82798

NANDO:1201066

NANDO:2201379

OMIM:226650

Orphanet:89840

SCTID:33662006

UMLS:C0268374

Child terms

MONDO:0016673

MONDO:0019307

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