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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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


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Path 1
Term Annotations click to browse term
  disease 21089
    physical disorder 4958
      epidermolysis bullosa with congenital localized absence of skin and deformity of nails 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        Neurologic Manifestations 9941
          sensory system disease 6836
            skin disease 3901
              dermatitis 481
                bullous skin disease 165
                  vesiculobullous skin disease 152
                    epidermolysis bullosa 94
                      epidermolysis bullosa dystrophica 5
                        autosomal dominant dystrophic epidermolysis bullosa 1
                          epidermolysis bullosa with congenital localized absence of skin and deformity of nails 1
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