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Epidermolysis Bullosa Pruriginosa - Ontology Report - Rat Genome Database

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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: MIM:604129

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show annotations for term's descendants           Sort by:
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 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:8618004 More... NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    sensory system disease 7373
      skin disease 4308
        Skin Abnormalities 1325
          epidermolysis bullosa 96
            epidermolysis bullosa dystrophica 8
              Epidermolysis Bullosa Pruriginosa 1
Path 2
Term Annotations click to browse term
  disease 19143
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              dermatitis 528
                bullous skin disease 168
                  vesiculobullous skin disease 155
                    epidermolysis bullosa 96
                      epidermolysis bullosa dystrophica 8
                        Epidermolysis Bullosa Pruriginosa 1
paths to the root