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Metadata
DOID DOID:0060738
Name junctional epidermolysis bullosa non-Herlitz type
Definition A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.
https://www.ncbi.nlm.nih.gov/pubmed/10792571, https://www.ncbi.nlm.nih.gov/pubmed/11810295, https://www.ncbi.nlm.nih.gov/pubmed/18374450, https://www.ncbi.nlm.nih.gov/pubmed/7550320, https://www.ncbi.nlm.nih.gov/pubmed/7706760
Synonyms

GABEB [EXACT]

generalized atrophic benign epidermolysis bullosa [EXACT]

generalized junctional epidermolysis bullosa, non-Herlitz type [EXACT]

JEB-nH gen [EXACT]

JEN-nH [EXACT]

junctional epidermolysis bullosa generalisata mitis [EXACT]

junctional epidermolysis bullosa, Disentis type [EXACT]

Xrefs

ICD10CM:Q81.8

OMIM:226650

ORDO:79402

ORDO:89840

Relationships

is_a junctional epidermolysis bullosa

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