ONTOLOGY REPORT - ANNOTATIONS


Term:epidermolysis bullosa simplex
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Accession:DOID:4644 term browser browse the term
Definition:A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.
Synonyms:exact_synonym: Epidermolysis Bullosa Simplex, Cockayne Touraine Type;   Epidermolysis Bullosa Simplices
 narrow_synonym: Epidermolysis bullosa, simplex, PLEC;   Epidermolysis bullosa, simplex, PLEC-related
 primary_id: MESH:D016110
 alt_id: OMIA:002080;   RDO:0000628
 xref: GARD:10752
For additional species annotation, visit the Alliance of Genome Resources.


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epidermolysis bullosa simplex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:13592920
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:7240710
RGD:8554872
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:1600173
RGD:8554872
RGD:7240710
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:1600195
RGD:8554872
RGD:7240710
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204851
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:1599911
epidermolysis bullosa simplex Dowling-Meara type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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 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
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:7240710
RGD:8554872
Epidermolysis Bullosa Simplex with Mottled Pigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:7240710
RGD:8554872
epidermolysis bullosa simplex with muscular dystrophy 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
Epidermolysis Bullosa Simplex with Nail Dystrophy 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
Epidermolysis Bullosa Simplex With Pyloric Atresia 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
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
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:7240710
RGD:8554872
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 14875
    sensory system disease 4246
      skin disease 2253
        Skin Abnormalities 344
          epidermolysis bullosa 22
            epidermolysis bullosa simplex 7
              EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 1
              Epidermolysis Bullosa Simplex Superficialis 0
              Epidermolysis Bullosa Simplex With Pyloric Atresia 1
              Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 1
              Epidermolysis Bullosa Simplex with Mottled Pigmentation 1
              Epidermolysis Bullosa Simplex with Nail Dystrophy 1
              Epidermolysis Bullosa Simplex, Autosomal Recessive 3
              Epidermolysis Bullosa Simplex, Autosomal Recessive 2 1
              Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 0
              epidermolysis bullosa simplex Dowling-Meara type 2
              epidermolysis bullosa simplex Ogna type 1
              epidermolysis bullosa simplex generalized type 0
              epidermolysis bullosa simplex localized type 0
              epidermolysis bullosa simplex with muscular dystrophy 1
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, GENERALIZED, WITH SCARRING AND HAIR LOSS 1
                  Epidermolysis Bullosa Simplex Superficialis 0
                  Epidermolysis Bullosa Simplex With Pyloric Atresia 1
                  Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 1
                  Epidermolysis Bullosa Simplex with Mottled Pigmentation 1
                  Epidermolysis Bullosa Simplex with Nail Dystrophy 1
                  Epidermolysis Bullosa Simplex, Autosomal Recessive 3
                  Epidermolysis Bullosa Simplex, Autosomal Recessive 2 1
                  Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 0
                  epidermolysis bullosa simplex Dowling-Meara type 2
                  epidermolysis bullosa simplex Ogna type 1
                  epidermolysis bullosa simplex generalized type 0
                  epidermolysis bullosa simplex localized type 0
                  epidermolysis bullosa simplex with muscular dystrophy 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.