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Details
Link-It Detail - Disease - Congenital contractural arachnodactyly
Debug Stats
  • ### Total Build Time: 32 ms 15.244 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 374 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 12.062 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 1.575 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital contractural arachnodactyly C0220668
Relationships (39)

Relation Types:
diso_​to_​diso : 39


Relationships:
alias_​of : 1
manifestation_​of : 38
Page Size
Current 25
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg AORTIC ROOT DILATATION C0238669
DISO_to_DISOmanifestation_ofimg ARACHNODACTYLY C0003706
DISO_to_DISOmanifestation_ofimg Adducted thumbs C1832151
DISO_to_DISOmanifestation_ofimg Atrial septal defect ICD10CM:Q21.1 C3276093
DISO_to_DISOmanifestation_ofimg BONE LOSS C0029453
DISO_to_DISOmanifestation_ofimg BRACHYCEPHALY C0221356
DISO_to_DISOmanifestation_ofimg Bicuspid aortic valve C0149630
DISO_to_DISOmanifestation_ofimg Bossed forehead C0221354
DISO_to_DISOmanifestation_ofimg Caused by mutation in the fibrillin 2 gene (FBN2, 121050.0001) C3149073
DISO_to_DISOmanifestation_ofimg Congenital Camptodactyly C0685409
DISO_to_DISOalias_ofimg Congenital contractural arachnodactyly C0220668
DISO_to_DISOmanifestation_ofimg Congenital kyphoscoliosis (45%) C1852613
DISO_to_DISOmanifestation_ofimg Congenital metatarsus varus C0265647
DISO_to_DISOmanifestation_ofimg Congenital pectus carinatum C0158731
DISO_to_DISOmanifestation_ofimg Crumpled ear (76%) C3276531
DISO_to_DISOmanifestation_ofimg DOLICHOCEPHALY C0221358
DISO_to_DISOmanifestation_ofimg Ductus Arteriosus, Patent C0013274
DISO_to_DISOmanifestation_ofimg Ectopia Lentis C0013581
DISO_to_DISOmanifestation_ofimg Elbow contractures (86%) C1852615
DISO_to_DISOmanifestation_ofimg Flexion contracture of proximal interphalangeal joint C0409348
DISO_to_DISOmanifestation_ofimg Folded helices C1860792
DISO_to_DISOmanifestation_ofimg Heart Septal Defects, Ventricular C0018818
DISO_to_DISOmanifestation_ofimg High-arched palate (28%) C1852611
DISO_to_DISOmanifestation_ofimg Hip contractures (25%) C1852614
DISO_to_DISOmanifestation_ofimg Hypoplastic calf muscles C1852618
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanFBN22201fibrillin 2
img GAD, Score=1000, Pubmed Id: 9199560, UMLKSK CUI: C0220668
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0220668Congenital contractural arachnodactyly0self