ONTOLOGY REPORT - ANNOTATIONS


Term:epidermolysis bullosa simplex Dowling-Meara type
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Accession:DOID:0060735 term browser browse the term
Definition:An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. (DO)
Synonyms:exact_synonym: EBS-DM;   EBS-gen sev;   EBSDM;   epidermolysis bullosa herpetiformis Dowling Meara;   epidermolysis bullosa herpetiformis Dowling-Meara type;   epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma;   epidermolysis bullosa simplex, herpetiformis;   generalized severe epidermolysis bullosa simplex
 primary_id: OMIM:131760
 alt_id: RDO:9003961
 xref: ORDO:79396
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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

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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 Dowling-Meara type 2
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 Dowling-Meara type 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.