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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:Polyendocrine-Polyneuropathy Syndrome
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Accession:DOID:9004244 term browser browse the term
Synonyms:exact_synonym: PEPNS
 primary_id: MIM:616113;   RDO:9000654


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Polyendocrine-Polyneuropathy Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Polyendocrine-polyneuropathy syndrome OMIM
ClinVar		 PMID:25248098 PMID:25741868 PMID:28492532 NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      Polyendocrine-Polyneuropathy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        peripheral nervous system disease 4274
          polyneuropathy 115
            Polyendocrine-Polyneuropathy Syndrome 1
paths to the root