ONTOLOGY REPORT - ANNOTATIONS


Term:Epidermolysis Bullosa Simplex, Autosomal Recessive
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Accession:DOID:9006519 term browser browse the term
Synonyms:exact_synonym: EBSB1;   EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
 primary_id: MESH:C563408;   RDO:0012671
 alt_id: OMIM:601001
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Epidermolysis Bullosa Simplex, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:11554173
G Krt14 keratin 14 JBrowse link 10 88,118,029 88,122,233 RGD:7240710
RGD:8554872
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Skin Abnormalities 344
          epidermolysis bullosa 22
            epidermolysis bullosa simplex 7
              Epidermolysis Bullosa Simplex, Autosomal Recessive 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Skin Abnormalities 344
              epidermolysis bullosa 22
                epidermolysis bullosa simplex 7
                  Epidermolysis Bullosa Simplex, Autosomal Recessive 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.