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Details
Link-It Detail - Disease - Genu Varum
Debug Stats
  • ### Total Build Time: 23 ms 36.289 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 318 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 403 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= 245 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 549 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.498 KB
  • CONCEPT_RELATIONSHIPS gt=9 ms Completed: 9 ms rowSize= 3.392 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 28.740 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.145 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Genu Varum C0544755
Definition (1)
An outward slant of the thigh in which the knees are wide apart and the ankles close together. Genu varum can develop due to skeletal and joint dysplasia (e.g., OSTEOARTHRITIS; Blount's disease); and malnutrition (e.g., RICKETS; FLUORIDE POISONING).
Semantic Types (2)
Disease or Syndrome (T047)
Physiologic Function (T039)
Parents (1)
img Bone Diseases C0005940
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059403img Bone Diseases C0005940
Relationships (6)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 4


Relationships:
none : 4
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT9img Bone structure of tibia C0040184
DISO_to_ANAT6img Knee Joint C0022745
DISO_to_DISO6img Genu Valgum C0576093
DISO_to_DISO6img Osteoarthritis, Knee C0409959
DISO_to_DISOmapped_toimg Anterior bowing of legs with dwarfism C1862172
DISO_to_DISOpermuted_term_ofimg Genu Varum C0544755
Genes (34)

Species:
human : 34
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanANO5203859anoctamin 5
img OMIM, Score=833, UMLKSK CUI: C0544755
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=966, UMLKSK CUI: C0544755
HumanDYM54808dymeclin
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanCRTAP10491cartilage associated protein
img OMIM, Score=966, UMLKSK CUI: C0544755
HumanEIF2AK39451eukaryotic translation initiation factor 2-alpha kinase 3
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanWISP38838WNT1 inducible signaling pathway protein 3
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanWNT7A7476wingless-type MMTV integration site family, member 7A
img OMIM, Score=966, UMLKSK CUI: C0544755
img OMIM, Score=966, UMLKSK CUI: C0544755
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanSOX96662SRY (sex determining region Y)-box 9
img OMIM, Score=833, UMLKSK CUI: C0544755
img OMIM, Score=966, UMLKSK CUI: C0544755
HumanRMRP6023RNA component of mitochondrial RNA processing endoribonuclease
img OMIM, Score=966, UMLKSK CUI: C0544755
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanPTH1R5745parathyroid hormone 1 receptor
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanPHEX5251phosphate regulating endopeptidase homolog, X-linked
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanPCNT5116pericentrin
img OMIM, Score=966, UMLKSK CUI: C0544755
img OMIM, Score=966, UMLKSK CUI: C0544755
HumanTNFRSF11B4982tumor necrosis factor receptor superfamily, member 11b
img OMIM, Score=966, UMLKSK CUI: C0544755
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanNPR24882natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)
img OMIM, Score=966, UMLKSK CUI: C0544755
img OMIM, Score=966, UMLKSK CUI: C0544755
HumanMMP134322matrix metallopeptidase 13 (collagenase 3)
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanMATN34148matrilin 3
img OMIM, Score=966, UMLKSK CUI: C0544755
HumanMAN2B14125mannosidase, alpha, class 2B, member 1
img OMIM, Score=966, UMLKSK CUI: C0544755
HumanLIFR3977leukemia inhibitory factor receptor alpha
img OMIM, Score=966, UMLKSK CUI: C0544755
img OMIM, Score=833, UMLKSK CUI: C0544755
img OMIM, Score=966, UMLKSK CUI: C0544755
HumanIHH3549indian hedgehog
img OMIM, Score=1000, UMLKSK CUI: C0544755
HumanHSPG23339heparan sulfate proteoglycan 2
img OMIM, Score=833, UMLKSK CUI: C0544755
HumanFLNB2317filamin B, beta
img OMIM, Score=966, UMLKSK CUI: C0544755
img OMIM, Score=966, UMLKSK CUI: C0544755
img OMIM, Score=966, UMLKSK CUI: C0544755
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0544755Genu Varum0self