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About: epidermolysis bullosa simplex Ogna type     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
type
subClassOf
label
  • epidermolysis bullosa simplex Ogna type
described by
id
  • DOID:0060736
database_cross_reference
  • ICD10CM:Q81.0
  • OMIM:131950
  • ORDO:79401
has_exact_synonym
  • EBS-O (en)
  • EBS-Og (en)
  • EBSOG (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.
is topic of
is annotatedSource of
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