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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
 alt_id: OMIM:131950;   RDO:0001352
 xref: ICD10CM:Q81.0;   ORDO:79401
For additional species annotation, visit the Alliance of Genome Resources.


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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 16017
    sensory system disease 4971
      skin disease 2650
        Skin Abnormalities 613
          epidermolysis bullosa 57
            epidermolysis bullosa simplex 42
              epidermolysis bullosa simplex Ogna type 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        sensory system disease 4971
          skin disease 2650
            Skin Abnormalities 613
              epidermolysis bullosa 57
                epidermolysis bullosa simplex 42
                  epidermolysis bullosa simplex Ogna type 1
paths to the root

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