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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
 narrow_synonym: epidermolysis bullosa pruriginosa, autosomal dominant;   epidermolysis bullosa pruriginosa, autosomal recessive
 primary_id: MESH:C563192
 alt_id: OMIM:604129


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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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8755915 More... NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    sensory system disease 6744
      skin disease 3824
        Skin Abnormalities 1301
          epidermolysis bullosa 95
            epidermolysis bullosa dystrophica 8
              Epidermolysis Bullosa Pruriginosa 1
Path 2
Term Annotations click to browse term
  disease 18300
    Pathological Conditions, Signs and Symptoms 12356
      Signs and Symptoms 10134
        Neurologic Manifestations 9788
          sensory system disease 6744
            skin disease 3824
              dermatitis 484
                bullous skin disease 168
                  vesiculobullous skin disease 154
                    epidermolysis bullosa 95
                      epidermolysis bullosa dystrophica 8
                        Epidermolysis Bullosa Pruriginosa 1
paths to the root