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Details
Link-It Detail - Disease - Polydactyly
Debug Stats
  • ### Total Build Time: 234 ms 45.606 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 320 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 243 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=2 ms Completed: 2 ms rowSize= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 564 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 1,009 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 2.855 KB
  • CONCEPT_RELATIONSHIPS gt=153 ms Completed: 153 ms rowSize= 13.530 KB
  • CONCEPT_GENES gt=44 ms Completed: 44 ms rowSize= 25.775 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Polydactyly C0152427
Definition (1)
A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Limb Deformities, Congenital C0206762
Children (2)
img Pallister-Hall Syndrome C0265220
img Short Rib-Polydactyly Syndrome C0036996
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 (56)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 4
diso_​to_​diso : 44
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 21
associated_​with : 1
classifies : 2
isa : 5
location_​of : 1
mapped_​to : 25
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN82img genetic aspects C0017399
DISO_to_PHEN76img genetic aspects C0017399
DISO_to_DISO39img Abnormalities, Multiple C0000772
DISO_to_DISO31img Abnormalities, Multiple C0000772
DISO_to_ANAT29img Thumb C0040067
DISO_to_ANAT25img Fingers C0016129
DISO_to_DISO23img Syndactyly C0039075
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_ANAT18img Toes C0040357
DISO_to_ANAT17img Thumb C0040067
DISO_to_DISO15img Syndactyly C0039075
DISO_to_CHEM14img Hedgehog Proteins C1721080
DISO_to_DISO14img Congenital Hand Deformities C0018566
DISO_to_CHEM13img TRANSCRIPTION FACTOR C0040648
DISO_to_DISO13img Congenital Foot Deformity C0016508
DISO_to_PHYS12img Mutation C0026882
DISO_to_CHEM11img Factor, Trans-Acting C0040627
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_DISO11img Congenital Hand Deformities C0018566
DISO_to_CHEM10img Nerve Tissue Proteins C0027759
DISO_to_DISO10img Abnormalities, Craniofacial C0376634
DISO_to_ANATlocation_ofimg Digit structure C0582802
DISO_to_DISOassociated_withimg 223 SUPERNUMERARY STRUCTURES C0038476
DISO_to_DISOmapped_toimg Absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance C2931691
DISO_to_DISOmapped_toimg Absence of tibia with polydactyly C1861099
Genes (31)

Species:
human : 31
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBBS12166379Bardet-Biedl syndrome 12
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanMIPOL1145282mirror-image polydactyly 1
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanBBS5129880Bardet-Biedl syndrome 5
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanTTC8123016tetratricopeptide repeat domain 8
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanTMEM6791147transmembrane protein 67
img GENERIF, Score=1000, Pubmed Id: 17377820, UMLKSK CUI: C0152427
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanARL684100ADP-ribosylation factor-like 6
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanCEP29080184centrosomal protein 290kDa
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanBBS1079738Bardet-Biedl syndrome 10
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanBBS755212Bardet-Biedl syndrome 7
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanAGGF155109angiogenic factor with G patch and FHA domains 1
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0152427
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanBBS927241Bardet-Biedl syndrome 9
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanFBXW1123291F-box and WD repeat domain containing 11
img GENERIF, Score=660, Pubmed Id: 16865294, UMLKSK CUI: C0152427
HumanTRIM3222954tripartite motif containing 32
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanGDF58200growth differentiation factor 5
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanMKKS8195McKusick-Kaufman syndrome
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanALMS17840Alstrom syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanYWHAE7531tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanTFAP2A7020transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanPAFAH1B15048platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanLBR3930lamin B receptor
img OMIM, Score=1000, UMLKSK CUI: C0152427
img OMIM, Score=1000, UMLKSK CUI: C0152427
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0152427
img OMIM, Score=1000, UMLKSK CUI: C0152427
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0152427Polydactyly0self