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Details
Link-It Detail - Disease - Genu Valgum
Debug Stats
  • ### Total Build Time: 231 ms 29.107 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 320 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 402 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=4 ms Completed: 4 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=6 ms Completed: 6 ms rowSize= 3.327 KB
  • CONCEPT_GENES gt=213 ms Completed: 213 ms rowSize= 21.621 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Genu Valgum C0576093
Definition (1)
An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); 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_​diso : 6


Relationships:
none : 2
mapped_​to : 3
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO6img Genu Varum C0544755
DISO_to_DISO4img Osteoarthritis, Knee C0409959
DISO_to_DISOmapped_toimg GENU VALGUM, HEREDITARY PUBERTAL C1842052
DISO_to_DISOpermuted_term_ofimg Genu Valgum C0576093
DISO_to_DISOmapped_toimg Multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects C2931509
DISO_to_DISOmapped_toimg Teeth noneruption of with maxillary hypoplasia and genu valgum C1848903
Genes (25)

Species:
human : 25
SpeciesGeneGeneIdGene NameEvidence
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanEVC2132884Ellis van Creveld syndrome 2
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanGNPTG84572N-acetylglucosamine-1-phosphate transferase, gamma subunit
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanDYM54808dymeclin
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanRAB2351715RAB23, member RAS oncogene family
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanCHST39469carbohydrate (chondroitin 6) sulfotransferase 3
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanEIF2AK39451eukaryotic translation initiation factor 2-alpha kinase 3
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanTNFSF118600tumor necrosis factor (ligand) superfamily, member 11
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanMATN34148matrilin 3
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanGLB12720galactosidase, beta 1
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanGALNS2588galactosamine (N-acetyl)-6-sulfate sulfatase
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanFLNA2316filamin A, alpha
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanFBN12200fibrillin 1
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanEXT22132exostosin glycosyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanEXT12131exostosin glycosyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanEVC2121Ellis van Creveld syndrome
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanCTNS1497cystinosin, lysosomal cystine transporter
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanCOMP1311cartilage oligomeric matrix protein
img OMIM, Score=1000, UMLKSK CUI: C0576093
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanCOL2A11280collagen, type II, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanATRX546alpha thalassemia/mental retardation syndrome X-linked
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanATP7A538ATPase, Cu++ transporting, alpha polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanARSB411arylsulfatase B
img OMIM, Score=1000, UMLKSK CUI: C0576093
HumanACAN176aggrecan
img OMIM, Score=1000, UMLKSK CUI: C0576093
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0576093Genu Valgum0self