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ONTOLOGY REPORT - ANNOTATIONS


Term:epidermolysis bullosa simplex localized type
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Accession:DOID:0080510 term browser browse the term
Definition:An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. (DO)
Synonyms:exact_synonym: Acral Form EBS;   Epidermolysis Bullosa Simplex, Localized;   Epidermolysis Bullosa of Hands and Feet;   Weber Cockayne Syndrome;   epidermolysis bullosa simplex Weber-Cockayne type
 primary_id: OMIM:131800
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epidermolysis bullosa simplex localized type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:7240710
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    sensory system disease 4681
      skin disease 2461
        Skin Abnormalities 500
          epidermolysis bullosa 49
            epidermolysis bullosa simplex 34
              epidermolysis bullosa simplex localized type 3
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          skin disease 2461
            Skin Abnormalities 500
              epidermolysis bullosa 49
                epidermolysis bullosa simplex 34
                  epidermolysis bullosa simplex localized type 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.