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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 Pruriginosa
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Accession:DOID:9006711 term browser browse the term
Synonyms:exact_synonym: DEB, PRURIGINOSA;   Dystrophic Epidermolysis Bullosa Pruriginosa;   EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT;   Epidermolysis Bullosa Pruriginosa, Autosomal Recessive
 primary_id: MESH:C563192;   RDO:0012552
 alt_id: OMIM:604129
For additional species annotation, visit the Alliance of Genome Resources.


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Epidermolysis Bullosa Pruriginosa 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 pruriginosa, autosomal recessive
ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA
OMIM
ClinVar
PMID:8755915, PMID:9182828, PMID:9242516, PMID:9718359, PMID:9856844, PMID:9881948, PMID:10383749, PMID:10408773, PMID:11781296, PMID:12485454, PMID:12787275, PMID:15888141, PMID:16965329, PMID:16971478, PMID:17434045, PMID:19681861, PMID:20598510, PMID:21448560, PMID:22266148, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          collagen disease 307
            epidermolysis bullosa dystrophica 5
              Epidermolysis Bullosa Pruriginosa 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              epidermolysis bullosa 57
                epidermolysis bullosa dystrophica 5
                  Epidermolysis Bullosa Pruriginosa 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.