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ONTOLOGY REPORT - ANNOTATIONS


Term:epidermolysis bullosa simplex generalized type
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Accession:DOID:0080511 term browser browse the term
Definition:An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy. (DO)
Synonyms:exact_synonym: Epidermolysis Bullosa Simplex Kobner;   Epidermolysis Bullosa Simplex, Generalized;   Epidermolysis Bullosa Simplex, Generalized, with severe palmoplantar keratosis;   Epidermolysis Bullosa Simplex, Koebner Type;   Generalized EBS;   Generalized EBSs
 primary_id: OMIM:131900
For additional species annotation, visit the Alliance of Genome Resources.


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epidermolysis bullosa simplex generalized type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl24 kelch-like family member 24 JBrowse link 11 84,613,101 84,643,674 RGD:8554872
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:8554872
RGD:7240710
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:8554872
RGD:7240710
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl24 kelch-like family member 24 JBrowse link 11 84,613,101 84,643,674 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    sensory system disease 4976
      skin disease 2652
        Skin Abnormalities 613
          epidermolysis bullosa 57
            epidermolysis bullosa simplex 42
              epidermolysis bullosa simplex generalized type 3
                EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          skin disease 2652
            Skin Abnormalities 613
              epidermolysis bullosa 57
                epidermolysis bullosa simplex 42
                  epidermolysis bullosa simplex generalized type 3
                    EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 1
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.