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ONTOLOGY REPORT - ANNOTATIONS


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
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erythromelalgia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab7a RAB7A, member RAS oncogene family JBrowse link 4 119,910,461 119,963,065 RGD:8554872
G Scn10a sodium voltage-gated channel alpha subunit 10 JBrowse link 8 128,298,593 128,416,896 RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:1599517
RGD:8554872
RGD:1599515
RGD:7240710
RGD:11554173
G Septin9 septin 9 JBrowse link 10 106,208,308 106,340,747 RGD:8554872

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  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        peripheral nervous system disease 2368
          neuropathy 2184
            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.