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Details
Link-It Detail - Disease - Williams Syndrome
Debug Stats
  • ### Total Build Time: 68 ms 36.350 KB
  • CONCEPT_NAME gt=21 ms Completed: 21 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 483 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1.412 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 9.326 KB
  • CONCEPT_RELATIONSHIPS gt=28 ms Completed: 28 ms rowSize= 13.264 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 10.182 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Williams Syndrome C0175702
Definition (1)
A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Aortic Stenosis, Supravalvular C0003499
img Chromosome Disorders C0008626
img Intellectual Disability C0025362
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Heart Diseases C00187996img Aortic Stenosis, Supravalvular C0003499
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Chromosome Disorders C0008626
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Chromosome Disorders C0008626
img Mental Disorders C0004936img Mental Disorders Diagnosed in Childhood C05250404img Intellectual Disability C0025362
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370886img Intellectual Disability C0025362
img Nervous System Diseases C0027765img Neurologic Manifestations C00278545img Intellectual Disability C0025362
img Behavior and Behavior Mechanisms C0004928img Neurobehavioral Manifestations C05250414img Intellectual Disability C0025362
Relationships (130)

Relation Types:
diso_​to_​anat : 6
diso_​to_​diso : 108
diso_​to_​phen : 2
diso_​to_​phys : 14


Relationships:
none : 34
alias_​of : 1
manifestation_​of : 94
use : 1
Page Size
Current 25
  Page 1 of 6
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN120img genetic aspects C0017399
DISO_to_PHEN107img genetic aspects C0017399
DISO_to_DISO95img Complication Aspects C1171258
DISO_to_DISO79img Complication Aspects C1171258
DISO_to_ANAT24img 7 chromosome C0008670
DISO_to_DISO21img Cognition Disorders C0009241
DISO_to_PHYS21img Pattern Recognition, Visual C0030709
DISO_to_PHYS21img Visual Perception C0042830
DISO_to_DISO20img Autistic Disorder C0004352
DISO_to_PHYS20img Space Perception C0037744
DISO_to_DISO19img Down Syndrome C0013080
DISO_to_ANAT18img Brain C0006104
DISO_to_PHYS17img Cognition C0009240
DISO_to_ANAT16img 7 chromosome C0008670
DISO_to_DISO16img Down Syndrome C0013080
DISO_to_PHYS16img Visual Perception C0042830
DISO_to_PHYS15img Space Perception C0037744
DISO_to_DISO14img Expression, Facial C0015457
DISO_to_DISO14img Language Disorders C0023015
DISO_to_PHYS14img Attention C0004268
DISO_to_DISO13img Chromosome Deletion C0008628
DISO_to_PHYS13img CHILDHOOD DEVELOPMENT C0008071
DISO_to_PHYS13img Emotions C0013987
DISO_to_DISO12img Cognition Disorders C0009241
DISO_to_DISO11img FRAGILE X MENTAL RETARDATION SYNDROME C0016667
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanTRIM74378108tripartite motif containing 74
img GENERIF, Score=1000, Pubmed Id: 18398435, UMLKSK CUI: C0175702
HumanTRIM50135892tripartite motif containing 50
img GENERIF, Score=1000, Pubmed Id: 18398435, UMLKSK CUI: C0175702
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img GENERIF, Score=1000, Pubmed Id: 11978965, UMLKSK CUI: C0175702
HumanGTF2IRD284163GTF2I repeat domain containing 2
img GENERIF, Score=717, Pubmed Id: 15243160, UMLKSK CUI: C0175702
img GENERIF, Score=756, Pubmed Id: 15100712, UMLKSK CUI: C0175702
HumanNSUN555695NOP2/Sun domain family, member 5
img GENERIF, Score=1000, Pubmed Id: 11978965, UMLKSK CUI: C0175702
HumanELN2006elastin
img GENERIF, Score=1000, Pubmed Id: 16691586, UMLKSK CUI: C0175702
img GENERIF, Score=1000, Pubmed Id: 12102453, UMLKSK CUI: C0175702
img GENERIF, Score=1000, Pubmed Id: 17912483, UMLKSK CUI: C0175702
img GENERIF, Score=1000, Pubmed Id: 12016585, UMLKSK CUI: C0175702
img GAD, Score=1000, Pubmed Id: 15774842, UMLKSK CUI: C0175702
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0175702Williams Syndrome0self