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Details
Link-It Detail - Disease - Clubfoot
Debug Stats
  • ### Total Build Time: 263 ms 47.798 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 314 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 228 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=3 ms Completed: 3 ms rowSize= 564 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 6.760 KB
  • CONCEPT_RELATIONSHIPS gt=22 ms Completed: 22 ms rowSize= 12.841 KB
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 25.753 KB
  • CONCEPT_XREFS gt=202 ms Completed: 202 ms rowSize= 1.143 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Clubfoot C0009081
Definition (1)
A deformed foot in which the foot is plantarflexed, inverted and adducted.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Foot Deformities, Congenital C0016508
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Foot Deformities C00165064img Foot Deformities, Congenital C0016508
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514916img Foot Deformities, Congenital C0016508
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007687img Foot Deformities, Congenital C0016508
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514915img Foot Deformities, Congenital C0016508
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Foot Deformities, Congenital C0016508
Relationships (38)

Relation Types:
diso_​to_​anat : 12
diso_​to_​diso : 23
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 19
associated_​with : 3
classifies : 2
isa : 1
location_​of : 2
mapped_​to : 11
Page Size
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  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN37img genetic aspects C0017399
DISO_to_ANAT31img Achilles Tendon C0001074
DISO_to_DISO21img Complication Aspects C1171258
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_PHEN15img genetic aspects C0017399
DISO_to_ANAT10img Foot C0016504
DISO_to_ANAT10img Muscle, Skeletal C0242692
DISO_to_DISO10img Abnormalities, Multiple C0000772
DISO_to_ANAT9img Ankle Joint C0003087
DISO_to_DISO9img Gait C0016928
DISO_to_ANAT8img Achilles Tendon C0001074
DISO_to_ANAT8img Talus C0039277
DISO_to_ANAT8img Tarsal Bones C0039316
DISO_to_DISO8img Abnormalities, Multiple C0000772
DISO_to_DISO8img Arthrogryposis C0003886
DISO_to_PHYS8img Range of Motion, Articular C0080078
DISO_to_ANAT7img Subtalar Joint C0038593
DISO_to_ANAT7img Talus C0039277
DISO_to_ANAT7img Tendon structure C0039508
DISO_to_ANATlocation_ofimg Foot C0016504
DISO_to_ANATlocation_ofimg Heel C0018870
DISO_to_DISOmapped_toimg ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA C0220666
DISO_to_DISOmapped_toimg Adducted thumb and clubfoot syndrome C1866294
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOmapped_toimg BRANCHIAL DYSPLASIA, CLUBFOOT, INGUINAL HERNIA, AND BILIARY ATRESIA C1855551
Genes (65)

Species:
human : 65
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanHYLS1219844hydrolethalus syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanEVC2132884Ellis van Creveld syndrome 2
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanPLEKHG557449pleckstrin homology domain containing, family G (with RhoGef domain) member 5
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanGDAP154332ganglioside induced differentiation associated protein 1
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanFBXO725793F-box protein 7
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanALG310195ALG3, alpha-1,3- mannosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanCHST39469carbohydrate (chondroitin 6) sulfotransferase 3
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanRECQL49401RecQ protein-like 4
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanCTDP19150CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanMTMR28898myotubularin related protein 2
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanPEX38504peroxisomal biogenesis factor 3
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanGDF58200growth differentiation factor 5
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanGAN8139gigaxonin
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanWNT7A7476wingless-type MMTV integration site family, member 7A
img OMIM, Score=1000, UMLKSK CUI: C0009081
img GENERIF, Score=923, Pubmed Id: 18538017, UMLKSK CUI: C0009081
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanTPM27169tropomyosin 2 (beta)
img OMIM, Score=1000, UMLKSK CUI: C0009081
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanTNNT37140troponin T type 3 (skeletal, fast)
img OMIM, Score=1000, UMLKSK CUI: C0009081
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanTNNI27136troponin I type 2 (skeletal, fast)
img OMIM, Score=1000, UMLKSK CUI: C0009081
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanTGFBR27048transforming growth factor, beta receptor II (70/80kDa)
img OMIM, Score=1000, UMLKSK CUI: C0009081
HumanTGFBR17046transforming growth factor, beta receptor 1
img OMIM, Score=1000, UMLKSK CUI: C0009081
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0009081Clubfoot0self