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Details
Link-It Detail - Disease - Arachnodactyly
Debug Stats
  • ### Total Build Time: 123 ms 26.014 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 441 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=5 ms Completed: 5 ms rowSize= 564 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 2.855 KB
  • CONCEPT_RELATIONSHIPS gt=100 ms Completed: 100 ms rowSize= 9.366 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 11.122 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Arachnodactyly C0003706
Definition (1)
An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Limb Deformities, Congenital C0206762
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 (20)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 17
diso_​to_​phen : 1


Relationships:
none : 4
associated_​with : 2
isa : 2
location_​of : 2
mapped_​to : 8
permuted_​term_​of : 1
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_DISO5img Contracture C0009917
DISO_to_DISO4img Abnormalities, Multiple C0000772
DISO_to_DISO4img Multiple congenital anomalies C0000772
DISO_to_ANATlocation_ofimg Structure of all fingers C0230409
DISO_to_ANATlocation_ofimg Structure of all toes C0230507
DISO_to_DISOpermuted_term_ofimg ARACHNODACTYLY C0003706
DISO_to_DISOassociated_withimg Abnormally long growth C0332897
DISO_to_DISOmapped_toimg Achard syndrome C1332135
DISO_to_DISOmapped_toimg Arachnodactyly ataxia cataract aminoaciduria mental retardation C2931490
DISO_to_DISOmapped_toimg Arachnodactyly, abnormal ossification and mental retardation C2931398
DISO_to_DISOmapped_toimg Arachnodactyly, joint laxity, and spondylolisthesis C2931533
DISO_to_DISOmapped_toimg BLEPHAROPHIMOSIS, ARACHNODACTYLY, AND CONGENITAL CONTRACTURES C1833136
DISO_to_DISOmapped_toimg Bhaskar Jagannathan syndrome C2930901
DISO_to_DISOisaimg Congenital contractural arachnodactyly C0220668
DISO_to_DISOassociated_withimg Congenital smallness C0332898
DISO_to_DISOmapped_toimg MARDEN-WALKER SYNDROME C0796033
DISO_to_DISOused_forimg Marfan Syndrome C0024796
DISO_to_DISOisaimg O/E - arachnodactyly C0437834
DISO_to_DISOmapped_toimg Shprintzen-Goldberg syndrome C1321551
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanHUWE110075HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
img OMIM, Score=1000, UMLKSK CUI: C0003706
HumanTGFBR27048transforming growth factor, beta receptor II (70/80kDa)
img OMIM, Score=1000, UMLKSK CUI: C0003706
img OMIM, Score=1000, UMLKSK CUI: C0003706
HumanTGFBR17046transforming growth factor, beta receptor 1
img OMIM, Score=1000, UMLKSK CUI: C0003706
img OMIM, Score=1000, UMLKSK CUI: C0003706
HumanPOR5447P450 (cytochrome) oxidoreductase
img OMIM, Score=1000, UMLKSK CUI: C0003706
HumanPLOD15351procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
img OMIM, Score=1000, UMLKSK CUI: C0003706
HumanHSD17B103028hydroxysteroid (17-beta) dehydrogenase 10
img OMIM, Score=1000, UMLKSK CUI: C0003706
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0003706
HumanFBN12200fibrillin 1
img OMIM, Score=1000, UMLKSK CUI: C0003706
img OMIM, Score=1000, UMLKSK CUI: C0003706
HumanCOL2A11280collagen, type II, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0003706
HumanCHRNG1146cholinergic receptor, nicotinic, gamma (muscle)
img OMIM, Score=1000, UMLKSK CUI: C0003706
HumanCTSC1075cathepsin C
img OMIM, Score=1000, UMLKSK CUI: C0003706
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0003706Arachnodactyly0self