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About: junctional epidermolysis bullosa non-Herlitz type     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • junctional epidermolysis bullosa non-Herlitz type
described by
id
  • DOID:0060738
database_cross_reference
  • ICD10CM:Q81.8
  • OMIM:226650
  • ORDO:79402
  • ORDO:89840
has_exact_synonym
  • junctional epidermolysis bullosa generalisata mitis (en)
  • GABEB (en)
  • JEB-nH gen (en)
  • JEN-nH (en)
  • generalized atrophic benign epidermolysis bullosa (en)
  • junctional epidermolysis bullosa, Disentis type (en)
  • generalized junctional epidermolysis bullosa, non-Herlitz type (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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