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Details
Link-It Detail - Disease - Foot Deformities, Congenital
Debug Stats
  • ### Total Build Time: 274 ms 41.082 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 409 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 279 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=13 ms Completed: 13 ms rowSize= 1.422 KB
  • CONCEPT_CHILDREN gt=11 ms Completed: 11 ms rowSize= 546 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=25 ms Completed: 25 ms rowSize= 6.770 KB
  • CONCEPT_RELATIONSHIPS gt=174 ms Completed: 174 ms rowSize= 12.741 KB
  • CONCEPT_GENES gt=36 ms Completed: 36 ms rowSize= 17.514 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Foot Deformities, Congenital C0016508
Congenital Foot Deformity
Definition (1)
Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (3)
img Foot Deformities C0016506
img Lower Extremity Deformities, Congenital C0431943
img Limb Deformities, Congenital C0206762
Children (1)
img Clubfoot C0009081
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Foot Deformities C00165063img Foot Deformities C0016506
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514915img Lower Extremity Deformities, Congenital C0431943
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Lower Extremity Deformities, Congenital C0431943
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 (72)

Relation Types:
diso_​to_​anat : 13
diso_​to_​diso : 57
diso_​to_​phen : 2


Relationships:
none : 24
associated_​with : 1
entry_​version_​of : 1
isa : 7
location_​of : 1
mapped_​to : 38
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO73img Congenital Hand Deformities C0018566
DISO_to_DISO61img Congenital Hand Deformities C0018566
DISO_to_PHEN56img genetic aspects C0017399
DISO_to_PHEN52img genetic aspects C0017399
DISO_to_DISO44img Abnormalities, Multiple C0000772
DISO_to_DISO32img Abnormalities, Multiple C0000772
DISO_to_ANAT22img Toes C0040357
DISO_to_ANAT15img Toes C0040357
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_ANAT14img Metatarsal Bones C0025584
DISO_to_DISO13img Polydactyly C0152427
DISO_to_ANAT11img Metatarsal Bones C0025584
DISO_to_ANAT11img Talus C0039277
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_ANAT9img Fingers C0016129
DISO_to_ANAT9img Foot C0016504
DISO_to_ANAT9img Talus C0039277
DISO_to_ANAT8img Fingers C0016129
DISO_to_DISO8img Acquired Foot Deformities C0016507
DISO_to_DISO8img Ectodermal Dysplasia C0013575
DISO_to_ANAT7img Bone structure of tibia C0040184
DISO_to_ANAT7img Fibula C0016068
DISO_to_ANAT7img Tarsal Bones C0039316
DISO_to_DISO7img Syndactyly C0039075
DISO_to_ANATlocation_ofimg Foot C0016504
Genes (65)

Species:
human : 65
Page Size
Current 25
  Page 1 of 3
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanHYLS1219844hydrolethalus syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanEVC2132884Ellis van Creveld syndrome 2
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanNSD164324nuclear receptor binding SET domain protein 1
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanPLEKHG557449pleckstrin homology domain containing, family G (with RhoGef domain) member 5
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanPEX2655670peroxisomal biogenesis factor 26
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanGDAP154332ganglioside induced differentiation associated protein 1
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanFBXO725793F-box protein 7
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanALG310195ALG3, alpha-1,3- mannosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanCHST39469carbohydrate (chondroitin 6) sulfotransferase 3
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanRECQL49401RecQ protein-like 4
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanCTDP19150CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanMTMR28898myotubularin related protein 2
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanPEX38504peroxisomal biogenesis factor 3
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanOFD18481oral-facial-digital syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanGDF58200growth differentiation factor 5
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanGAN8139gigaxonin
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanWNT7A7476wingless-type MMTV integration site family, member 7A
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanTPM27169tropomyosin 2 (beta)
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanTNNT37140troponin T type 3 (skeletal, fast)
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanTNNI27136troponin I type 2 (skeletal, fast)
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanTGFBR27048transforming growth factor, beta receptor II (70/80kDa)
INFERRED, Score=800, UMLKSK CUI: C0016508
HumanTGFBR17046transforming growth factor, beta receptor 1
INFERRED, Score=800, UMLKSK CUI: C0016508
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016508Foot Deformities, Congenital0self