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Details
Link-It Detail - Disease - ERYTHROCYTOSIS, FAMILIAL, 2
Debug Stats
  • ### Total Build Time: 17 ms 13.035 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=1 ms Completed: 1 ms rowSize= 14 bytes
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  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=12 ms Completed: 12 ms rowSize= 9.034 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 2.426 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
ERYTHROCYTOSIS, FAMILIAL, 2 C1837915
Relationships (22)

Relation Types:
diso_​to_​diso : 22


Relationships:
expanded_​form_​of : 1
manifestation_​of : 21
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Caused by mutation in the VHL gene (VHL, 608537.0014) C1849750
DISO_to_DISOmanifestation_ofimg Cerebral Hemorrhage C2937358
DISO_to_DISOmanifestation_ofimg Cerebral vascular events C1849743
DISO_to_DISOexpanded_form_ofimg ERYTHROCYTOSIS, FAMILIAL, 2 C1837915
DISO_to_DISOmanifestation_ofimg Erythrocytosis C1527405
DISO_to_DISOmanifestation_ofimg Fatigue C0015672
DISO_to_DISOmanifestation_ofimg Florid red complexion (finding) C0232370
DISO_to_DISOmanifestation_ofimg Headache C0018681
DISO_to_DISOmanifestation_ofimg Hematocrit increased C0239935
DISO_to_DISOmanifestation_ofimg Hemoglobin increased C0549448
DISO_to_DISOmanifestation_ofimg Hypotension C0020649
DISO_to_DISOmanifestation_ofimg Increased red blood cell mass C1853288
DISO_to_DISOmanifestation_ofimg Increased serum erythropoietin (EPO, 133170) C1849744
DISO_to_DISOmanifestation_ofimg Increased serum plasminogen activator inhibitor-1 (PAI1, 173360) C1849746
DISO_to_DISOmanifestation_ofimg Increased serum vascular endothelial growth factor (VEGF, 192240) C1849745
DISO_to_DISOmanifestation_ofimg Mean age at diagnosis 16 years (range 6 to 22) C1849751
DISO_to_DISOmanifestation_ofimg Normal leukocyte and platelet counts C1849747
DISO_to_DISOmanifestation_ofimg Peripheral thrombosis C1849749
DISO_to_DISOmanifestation_ofimg See also erythrocytosis 1 (ECYT1, 133100) C1853291
DISO_to_DISOmanifestation_ofimg VASCULAR ABNORMALITY C0241657
DISO_to_DISOmanifestation_ofimg Varicose Veins C0042345
DISO_to_DISOmanifestation_ofimg Vertebral hemangiomas C1849748
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanVHL7428von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
img GAD, Score=881, Pubmed Id: 12702509, UMLKSK CUI: C1837915
HumanEPOR2057erythropoietin receptor
img OMIM, Score=833, UMLKSK CUI: C1837915
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1837915ERYTHROCYTOSIS, FAMILIAL, 20self