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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 peripheral arterial disease that is characterized by the triad of ERYTHEMA, burning PAIN, and increased SKIN TEMPERATURE of the extremities (or red, painful extremities). Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. Secondary erythromelalgia is associated with other diseases, the most common being MYELOPROLIFERATIVE DISORDERS.
Synonyms:exact_synonym: Erythermalgia;   Erythromelalgias;   erythermalgias
 narrow_synonym: ERYTHROMELALGIA, FAMILIAL NEUROPATHY, SMALL FIBER;   Familial Erythromelalgia;   INHERITED ERYTHROMELALGIA;   Primary Erythermalgia;   Primary Erythermalgias;   SFNP;   acute episodes of neuropathic symptoms;   primary erythromelalgia;   sodium channelopathy-related small fiber neuropathy
 primary_id: MESH:D004916
 alt_id: OMIM:133020
 xref: GARD:6377;   ICD10CM:I73.81;   ICD9CM:443.82;   NCI:C125383;   NCI:C34593
For additional species annotation, visit the Alliance of Genome Resources.



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erythromelalgia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy ClinVar NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy ClinVar PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Primary erythromelalgia
ClinVar Annotator: match by term: Erythermalgia, primary
ClinVar Annotator: match by OMIM:133020
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inherited Erythromelalgia
ClinVar
OMIM
CTD
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
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy ClinVar NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        peripheral nervous system disease 2536
          neuropathy 2332
            erythromelalgia 4
paths to the root