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Details
Link-It Detail - Disease - Erythromelalgia
Debug Stats
  • ### Total Build Time: 17 ms 18.978 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 525 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 564 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.516 KB
  • CONCEPT_RELATIONSHIPS gt=9 ms Completed: 9 ms rowSize= 6.285 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 8.425 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Erythromelalgia C0014804
Definition (1)
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.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Peripheral Vascular Diseases C0085096
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Vascular Diseases C00423734img Peripheral Vascular Diseases C0085096
Relationships (13)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 7
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 9
isa : 2
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN34img genetic aspects C0017399
DISO_to_CHEM27img Sodium Channel C0037492
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_CHEM12img Sodium Channel C0037492
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_DISO9img Pain C0030193
DISO_to_PHYS9img Mutation C0026882
DISO_to_PHYS6img Missense Mutation C0599155
DISO_to_DISOmapped_toimg Drug-induced erythromelalgia C1274990
DISO_to_DISOpermuted_term_ofimg ERYTHERMALGIA C0014804
DISO_to_DISOisaimg ERYTHERMALGIA, PRIMARY C0014805
DISO_to_DISOisaimg Erythromelalgia Type III C0543820
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanTHPO7066thrombopoietin
img OMIM, Score=1000, UMLKSK CUI: C0014804
HumanSCN9A6335sodium channel, voltage-gated, type IX, alpha subunit
img GENERIF, Score=1000, Pubmed Id: 18518989, UMLKSK CUI: C0014804
img GENERIF, Score=1000, Pubmed Id: 15385606, UMLKSK CUI: C0014804
img GENERIF, Score=1000, Pubmed Id: 16988069, UMLKSK CUI: C0014804
img GENERIF, Score=1000, Pubmed Id: 18171466, UMLKSK CUI: C0014804
img GENERIF, Score=1000, Pubmed Id: 17135418, UMLKSK CUI: C0014804
img GENERIF, Score=694, Pubmed Id: 17430993, UMLKSK CUI: C0014804
img GENERIF, Score=1000, Pubmed Id: 18945915, UMLKSK CUI: C0014804
HumanMPL4352myeloproliferative leukemia virus oncogene
img OMIM, Score=1000, UMLKSK CUI: C0014804
HumanJAK23717Janus kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0014804
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0014804Erythromelalgia0self