ONTOLOGY REPORT - ANNOTATIONS


Term:epidermolysis bullosa simplex Ogna type
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Accession:DOID:0060736 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: EBS-O;   EBSOG;   Ebs-Og;   Epidermolysis bullosa simplex 1
 primary_id: MESH:C535962;   RDO:0001352
 alt_id: OMIM:131950
 xref: ORDO:79401
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epidermolysis bullosa simplex Ogna type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    sensory system disease 4244
      skin disease 2253
        Skin Abnormalities 344
          epidermolysis bullosa 22
            epidermolysis bullosa simplex 7
              epidermolysis bullosa simplex Ogna type 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          skin disease 2253
            Skin Abnormalities 344
              epidermolysis bullosa 22
                epidermolysis bullosa simplex 7
                  epidermolysis bullosa simplex Ogna type 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.