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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:inherited epidermolysis bullosa
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Accession:EFO:MONDO:0019276 term browser browse the term
Definition:Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
Synonyms:exact_synonym: epidermolysis bullosa hereditaria;   hereditary epidermolysis bullosa
 alt_id: MONDO:0019276
 xref: GARD:18992;   ICD9:757.39;   MEDGEN:697573;   ORDO:79361;   SCTID:402781004;   UMLS:C1274224


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Path 1
Term Annotations click to browse term
  experimental factor 512868
    material property 101355
      disposition 85928
        disease 85908
          genetic disorder 10599
            hereditary skin disorder 1367
              inherited epidermolysis bullosa 0
                Albright hereditary osteodystrophy 0
                Autosomal dominant multiple pterygium syndrome 0
                Cutis gyrata - acanthosis nigricans - craniosynostosis 0
                Familial dysautonomia 0
                Genetic dermis elastic tissue disorder + 0
                Genetic mixed dermis disorder + 0
                Genetic skin vascular disorder + 0
                Kindler syndrome + 0
                Pachydermoperiostosis 0
                epidermolysis bullosa dystrophica + 0
                epidermolysis bullosa simplex + 0
                junctional epidermolysis bullosa + 0
Path 2
Term Annotations click to browse term
  experimental factor 512868
    material property 101355
      disposition 85928
        disease 85908
          integumentary system disease 6319
            skin disease 3760
              vesiculobullous skin disease 77
                epidermolysis bullosa 0
                  inherited epidermolysis bullosa 0
                    Albright hereditary osteodystrophy 0
                    Autosomal dominant multiple pterygium syndrome 0
                    Cutis gyrata - acanthosis nigricans - craniosynostosis 0
                    Familial dysautonomia 0
                    Genetic dermis elastic tissue disorder + 0
                    Genetic mixed dermis disorder + 0
                    Genetic skin vascular disorder + 0
                    Kindler syndrome + 0
                    Pachydermoperiostosis 0
                    epidermolysis bullosa dystrophica + 0
                    epidermolysis bullosa simplex + 0
                    junctional epidermolysis bullosa + 0
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