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ONTOLOGY REPORT - ANNOTATIONS


Term:epidermolysis bullosa with congenital localized absence of skin and deformity of nails
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Accession:DOID:0111347 term browser browse the term
Definition:An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in COL7A1 on chromosome 3p21.31. (DO)
Synonyms:exact_synonym: EBD, Bart type;   epidermolysis bullosa dystrophica, Bart type
 primary_id: MESH:C562638
 alt_id: OMIM:132000;   RDO:0012260
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epidermolysis bullosa with congenital localized absence of skin and deformity of nails term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            autosomal genetic disease 3617
              autosomal dominant disease 2135
                epidermolysis bullosa with congenital localized absence of skin and deformity of nails 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          skin disease 2467
            vesiculobullous skin disease 109
              epidermolysis bullosa 49
                epidermolysis bullosa dystrophica 4
                  autosomal dominant dystrophic epidermolysis bullosa 1
                    epidermolysis bullosa with congenital localized absence of skin and deformity of nails 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.