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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 4:119,910,461...119,963,065
Ensembl chr 4:119,910,478...119,959,173
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:28492532 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Primary erythromelalgia
ClinVar Annotator: match by OMIM:133020
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inherited Erythromelalgia
ClinVar
OMIM
CTD
PMID:1536168, PMID:14985375, PMID:15385606, PMID:15955112, PMID:15958509, PMID:16216943, PMID:16392115, PMID:16702558, PMID:16988069, PMID:17101882, PMID:17145499, PMID:18414213, PMID:18518989, PMID:19369487, PMID:19549232, PMID:19557861, PMID:19763161, PMID:20301342, PMID:21094958, PMID:21698661, PMID:21939494, PMID:22035805, PMID:22136189, PMID:22539570, PMID:22604722, PMID:22826602, PMID:22995991, PMID:23129781, PMID:23149731, PMID:23280954, PMID:23292638, PMID:23450472, PMID:23874707, PMID:23895530, PMID:24033266, PMID:24088041, PMID:24776970, PMID:24817410, PMID:24820863, PMID:24848745, PMID:25250524, PMID:25316021, PMID:25333069, PMID:25401298, PMID:25741868, PMID:25852444, PMID:25993546, PMID:26264438, PMID:26284228, PMID:26392352, PMID:26467025, PMID:26633545, PMID:26675522, PMID:26920677, PMID:27504264, PMID:27843123, PMID:27884173, PMID:27956748, PMID:28073787, PMID:28235406, PMID:28440294, PMID:28492532, PMID:28590052, PMID:28658526, PMID:29176367, PMID:29264398, PMID:29358611, PMID:29379075, PMID:29500686, PMID:29911575, PMID:30311386, PMID:30316835, PMID:30642272, PMID:30702961, PMID:30834459, PMID:32581362, PMID:16216943, PMID:14985375 RGD:1599517, RGD:1599515 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy ClinVar NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            erythromelalgia 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.