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ONTOLOGY REPORT - ANNOTATIONS


Term:epidermolysis bullosa simplex with mottled pigmentation
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Accession:DOID:0111346 term browser browse the term
Definition:An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: EBSMP;   epidermolysis bullosa simplex-MP;   speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering;   speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering
 primary_id: MESH:C535959
 alt_id: OMIM:131960;   RDO:0001349
 xref: GARD:9737;   ORDO:79397
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    sensory system disease 4685
      skin disease 2467
        Skin Abnormalities 501
          epidermolysis bullosa 49
            epidermolysis bullosa simplex 34
              epidermolysis bullosa simplex with mottled pigmentation 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          skin disease 2467
            Skin Abnormalities 501
              epidermolysis bullosa 49
                epidermolysis bullosa simplex 34
                  epidermolysis bullosa simplex with mottled pigmentation 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.