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Details
Link-It Detail - Disease - Lower Extremity Deformities, Congenital
Debug Stats
  • ### Total Build Time: 274 ms 36.544 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 376 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 213 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=8 ms Completed: 8 ms rowSize= 564 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 566 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=11 ms Completed: 11 ms rowSize= 2.855 KB
  • CONCEPT_RELATIONSHIPS gt=192 ms Completed: 192 ms rowSize= 13.109 KB
  • CONCEPT_GENES gt=40 ms Completed: 40 ms rowSize= 17.514 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.173 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Lower Extremity Deformities, Congenital C0431943
Definition (1)
Congenital structural abnormalities of the LOWER EXTREMITY.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Limb Deformities, Congenital C0206762
Children (1)
img Foot Deformities, Congenital C0016508
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Limb Deformities, Congenital C0206762
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Limb Deformities, Congenital C0206762
Relationships (100)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 98


Relationships:
none : 8
associated_​with : 1
classifies : 2
isa : 57
location_​of : 1
mapped_​to : 31
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO10img Upper Extremity Deformities, Congenital C0749794
DISO_to_DISO8img Multiple congenital anomalies C0000772
DISO_to_DISO7img Abnormalities, Multiple C0000772
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_ANAT5img Femur C0015811
DISO_to_DISO5img Atrial Septal Defects C0018817
DISO_to_DISO5img Congenital Heart Defects C0018798
DISO_to_DISO5img Leg Length Inequality C0023221
DISO_to_ANATlocation_ofimg Lower Extremity C0023216
DISO_to_DISOisaimg (Cavus: [talipes] or [pes]) or (congenital claw toe) C0431970
DISO_to_DISOisaimg Aberrant muscle of the lower limb C0431981
DISO_to_DISOisaimg Accessory digit of foot C0158734
DISO_to_DISOisaimg Acrodysostosis C0220659
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOisaimg Amelia - lower limb C0265621
DISO_to_DISOisaimg Brachydactyly of toes C0432029
DISO_to_DISOisaimg CAMPOMELIC DYSPLASIA C1861922
DISO_to_DISOmapped_toimg CDO SYNDROME C1852542
DISO_to_DISOisaimg Cong knee deformity C0158767
DISO_to_DISOassociated_withimg Congenital Abnormality C0000768
DISO_to_DISOisaimg Congenital abduction contracture of hip C0431960
DISO_to_DISOisaimg Congenital abnormal fusion of hindpaw phalanx C0685478
DISO_to_DISOmapped_toimg Congenital abnormal shape of femur C0685421
DISO_to_DISOmapped_toimg Congenital abnormal shape of fibula C0685427
DISO_to_DISOisaimg Congenital abnormality of foot and toes C0456310
Genes (65)

Species:
human : 65
Page Size
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SpeciesGeneGeneIdGene NameEvidence
HumanHYLS1219844hydrolethalus syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanEVC2132884Ellis van Creveld syndrome 2
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanNSD164324nuclear receptor binding SET domain protein 1
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanPLEKHG557449pleckstrin homology domain containing, family G (with RhoGef domain) member 5
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanPEX2655670peroxisomal biogenesis factor 26
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanGDAP154332ganglioside induced differentiation associated protein 1
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanFBXO725793F-box protein 7
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanALG310195ALG3, alpha-1,3- mannosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanCHST39469carbohydrate (chondroitin 6) sulfotransferase 3
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanRECQL49401RecQ protein-like 4
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanCTDP19150CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanMTMR28898myotubularin related protein 2
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanPEX38504peroxisomal biogenesis factor 3
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanOFD18481oral-facial-digital syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanGDF58200growth differentiation factor 5
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanGAN8139gigaxonin
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanWNT7A7476wingless-type MMTV integration site family, member 7A
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanTPM27169tropomyosin 2 (beta)
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanTNNT37140troponin T type 3 (skeletal, fast)
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanTNNI27136troponin I type 2 (skeletal, fast)
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanTGFBR27048transforming growth factor, beta receptor II (70/80kDa)
INFERRED, Score=800, UMLKSK CUI: C0431943
HumanTGFBR17046transforming growth factor, beta receptor 1
INFERRED, Score=800, UMLKSK CUI: C0431943
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0431943Lower Extremity Deformities, Congenital0self