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RGD uses the Human Disease Ontology (DO, 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: OMIM:616113;   RDO:9000654
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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
PMID:25248098 NCBI chr 8:58,932,575...59,077,788
Ensembl chr 8:58,932,580...59,077,690
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Polyendocrine-Polyneuropathy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          polyneuropathy 92
            Polyendocrine-Polyneuropathy Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.