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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;   RDO:0012260
For additional species annotation, visit the Alliance of Genome Resources.


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epidermolysis bullosa with congenital localized absence of skin and deformity of nails term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE OMIM
ClinVar
PMID:3771648, PMID:5910871, PMID:8618021, PMID:8755915, PMID:10408773, PMID:11781296, PMID:11843659, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16971478, PMID:19026465, PMID:19681861, PMID:20507384, PMID:20598510, PMID:22266148, PMID:24033266, PMID:25741868, PMID:26064063, PMID:28492532, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                epidermolysis bullosa with congenital localized absence of skin and deformity of nails 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            vesiculobullous skin disease 117
              epidermolysis bullosa 57
                epidermolysis bullosa dystrophica 5
                  autosomal dominant dystrophic epidermolysis bullosa 2
                    epidermolysis bullosa with congenital localized absence of skin and deformity of nails 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.