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Details
Link-It Detail - Disease - Limb Deformities, Congenital
Debug Stats
  • ### Total Build Time: 541 ms 41.781 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 251 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=3 ms Completed: 3 ms rowSize= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=15 ms Completed: 15 ms rowSize= 565 bytes
  • CONCEPT_CHILDREN gt=82 ms Completed: 82 ms rowSize= 4.417 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.857 KB
  • CONCEPT_RELATIONSHIPS gt=367 ms Completed: 367 ms rowSize= 13.879 KB
  • CONCEPT_GENES gt=57 ms Completed: 57 ms rowSize= 18.109 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Limb Deformities, Congenital C0206762
Definition (1)
Congenital structural deformities of the upper and lower extremities collectively or unspecified.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Musculoskeletal Abnormalities C0151491
Children (10)
img Hand Deformities, Congenital C0018566
img Arachnodactyly C0003706
img Syndactyly C0039075
img Proteus Syndrome C0085261
img Foot Deformities, Congenital C0016508
img Ectromelia C0013589
img Upper Extremity Deformities, Congenital C0749794
img Polydactyly C0152427
img Lower Extremity Deformities, Congenital C0431943
img Thanatophoric Dysplasia C0039743
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514913img Musculoskeletal Abnormalities C0151491
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Musculoskeletal Abnormalities C0151491
Relationships (154)

Relation Types:
diso_​to_​anat : 9
diso_​to_​chem : 15
diso_​to_​diso : 122
diso_​to_​phen : 2
diso_​to_​phys : 6


Relationships:
none : 55
associated_​with : 1
classifies : 2
isa : 22
location_​of : 1
mapped_​to : 73
Page Size
Current 25
  Page 1 of 7
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN136img genetic aspects C0017399
DISO_to_PHEN98img genetic aspects C0017399
DISO_to_DISO90img Abnormalities, Multiple C0000772
DISO_to_DISO88img Abnormalities, Multiple C0000772
DISO_to_DISO44img Complication Aspects C1171258
DISO_to_DISO29img chemically induced C0007994
DISO_to_DISO27img Congenital Heart Defects C0018798
DISO_to_DISO26img Ectodermal Dysplasia C0013575
DISO_to_DISO24img Craniofacial Abnormalities C0376634
DISO_to_PHYS19img Mutation C0026882
DISO_to_DISO18img chemically induced C0007994
DISO_to_PHYS18img Mutation C0026882
DISO_to_DISO15img Abnormalities, Craniofacial C0376634
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_CHEM12img TRANSCRIPTION FACTOR C0040648
DISO_to_CHEM11img Bone Morphogenetic Proteins C0053932
DISO_to_DISO11img Scalp Dermatoses C0036271
DISO_to_DISO10img Abnormalities, Drug-Induced C0000771
DISO_to_DISO10img Mandibulofacial Dysostosis C0242387
DISO_to_ANAT9img Limb structure C0015385
DISO_to_CHEM9img Factor, Trans-Acting C0040627
DISO_to_CHEM9img Homeo Domain Proteins C0242617
DISO_to_CHEM9img Homeodomain Proteins C0242617
DISO_to_CHEM9img TRANSCRIPTION FACTOR C0040648
DISO_to_CHEM9img Teratogens C0039536
Genes (133)

Species:
human : 133
Page Size
Current 25
  Page 1 of 6
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanHYLS1219844hydrolethalus syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanBBS12166379Bardet-Biedl syndrome 12
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanMIPOL1145282mirror-image polydactyly 1
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanEVC2132884Ellis van Creveld syndrome 2
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanBBS5129880Bardet-Biedl syndrome 5
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanTTC8123016tetratricopeptide repeat domain 8
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanFAM58A92002family with sequence similarity 58, member A
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanTMEM6791147transmembrane protein 67
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanARL684100ADP-ribosylation factor-like 6
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanCEP29080184centrosomal protein 290kDa
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanFRAS180144Fraser syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanBBS1079738Bardet-Biedl syndrome 10
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanPORCN64840porcupine homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanNSD164324nuclear receptor binding SET domain protein 1
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanPLEKHG557449pleckstrin homology domain containing, family G (with RhoGef domain) member 5
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanSALL457167sal-like 4 (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanPEX2655670peroxisomal biogenesis factor 26
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanBBS755212Bardet-Biedl syndrome 7
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanAGGF155109angiogenic factor with G patch and FHA domains 1
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanMKS154903Meckel syndrome, type 1
INFERRED, Score=800, UMLKSK CUI: C0206762
HumanGDAP154332ganglioside induced differentiation associated protein 1
INFERRED, Score=800, UMLKSK CUI: C0206762
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0206762Limb Deformities, Congenital0self