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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:eosinophilia-myalgia syndrome
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Accession:DOID:998 term browser browse the term
Definition:A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration. (DO)
Synonyms:exact_synonym: L-Tryptophan-Related Eosinophilia-Myalgia Syndrome;   L-Tryptophan-Related Eosinophilia-Myalgia Syndromes;   eosinophilia-myalgia syndromes
 primary_id: MESH:D016603
 xref: EFO:1001316;   GARD:6345;   ICD9CM:710.5


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eosinophilia-myalgia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:19790128 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19790128 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    syndrome 10708
      hypereosinophilic syndrome 28
        eosinophilia-myalgia syndrome 2
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      nervous system disease 13987
        peripheral nervous system disease 4070
          neuropathy 3852
            neuromuscular disease 3029
              muscular disease 2117
                eosinophilia-myalgia syndrome 2
paths to the root