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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 15599
    sensory system disease 4663
      skin disease 2447
        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 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          skin disease 2447
            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.