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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 Simplex 5C with Pyloric Atresia
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Accession:DOID:9003881 term browser browse the term
Synonyms:exact_synonym: EBS with pyloric atresia;   EBS-PA;   EBS5C;   EBSPA;   epidermolysis bullosa simplex with pyloric atresia
 primary_id: MESH:C567408
 alt_id: OMIM:612138


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Epidermolysis Bullosa Simplex 5C with Pyloric Atresia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plec plectin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia | ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11851880 PMID:14675180 PMID:15206692 PMID:15654962 More... NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      skin disease 3969
        Skin Abnormalities 1298
          epidermolysis bullosa 94
            epidermolysis bullosa simplex 81
              Epidermolysis Bullosa Simplex 5C with Pyloric Atresia 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              dermatitis 483
                bullous skin disease 166
                  vesiculobullous skin disease 153
                    epidermolysis bullosa 94
                      epidermolysis bullosa simplex 81
                        Epidermolysis Bullosa Simplex 5C with Pyloric Atresia 1
paths to the root