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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:erythromelalgia
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Accession:DOID:9240 term browser browse the term
Definition:A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature. (DO)
Synonyms:exact_synonym: Erythermalgia;   erythermalgias;   erythromelalgias
 narrow_synonym: ERYTHROMELALGIA, FAMILIAL NEUROPATHY, SMALL FIBER;   Familial Erythromelalgia;   INHERITED ERYTHROMELALGIA;   Primary Erythermalgia;   SFNP;   acute episodes of neuropathic symptoms;   primary erythermalgias;   primary erythromelalgia;   sodium channelopathy-related small fiber neuropathy
 primary_id: MESH:D004916
 alt_id: MIM:133020
 xref: GARD:6377;   ICD10CM:I73.81;   ICD9CM:443.82;   NCI:C125383;   NCI:C34593


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erythromelalgia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Erythermalgia, primary | ClinVar Annotator: match by term: Inherited Erythromelalgia | ClinVar Annotator: match by term: Primary erythromelalgia		 OMIM
CTD
ClinVar
RGD		 PMID:1536168 PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 More... RGD:1599517, RGD:1599515 NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        peripheral nervous system disease 4399
          neuropathy 4187
            erythromelalgia 1
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