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Details
Link-It Detail - Disease - Aortic Stenosis, Supravalvular
Debug Stats
  • ### Total Build Time: 137 ms 19.794 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 311 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=15 ms Completed: 15 ms rowSize= 557 bytes
  • CONCEPT_CHILDREN gt=12 ms Completed: 12 ms rowSize= 555 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=37 ms Completed: 37 ms rowSize= 1.506 KB
  • CONCEPT_RELATIONSHIPS gt=36 ms Completed: 36 ms rowSize= 5.527 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 9.646 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Aortic Stenosis, Supravalvular C0003499
Definition (1)
A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Aortic Valve Stenosis C0003507
Children (1)
img Williams Syndrome C0175702
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Heart Diseases C00187995img Aortic Valve Stenosis C0003507
Relationships (11)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 9
diso_​to_​phen : 1


Relationships:
none : 5
entry_​version_​of : 1
isa : 4
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_DISO10img Williams Syndrome C0175702
DISO_to_ANAT9img Aorta C0003483
DISO_to_DISO9img Williams Syndrome C0175702
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_DISOentry_version_ofimg Aortic Stenosis, Supravalvular C0003499
DISO_to_DISOisaimg Congenital supravalvular aortic stenosis C1305147
DISO_to_DISOisaimg Diffuse supravalvar aortic stenosis C0345045
DISO_to_DISOisaimg Hour glass aortic stenosis C0345044
DISO_to_DISOisaimg Shelf-like supravalvar aortic stenosis C3164699
DISO_to_DISOmapped_toimg Supravalvar aortic stenosis, eisenberg type C2936909
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanTRIM74378108tripartite motif containing 74
INFERRED, Score=800, UMLKSK CUI: C0003499
HumanTRIM50135892tripartite motif containing 50
INFERRED, Score=800, UMLKSK CUI: C0003499
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
INFERRED, Score=800, UMLKSK CUI: C0003499
HumanGTF2IRD284163GTF2I repeat domain containing 2
INFERRED, Score=800, UMLKSK CUI: C0003499
HumanNSUN555695NOP2/Sun domain family, member 5
INFERRED, Score=800, UMLKSK CUI: C0003499
HumanEFEMP230008EGF containing fibulin-like extracellular matrix protein 2
img OMIM, Score=1000, UMLKSK CUI: C0003499
HumanFBLN510516fibulin 5
img OMIM, Score=1000, UMLKSK CUI: C0003499
HumanGTF2IRD19569GTF2I repeat domain containing 1
img OMIM, Score=1000, UMLKSK CUI: C0003499
HumanLOX4015lysyl oxidase
img OMIM, Score=1000, UMLKSK CUI: C0003499
HumanGTF2I2969general transcription factor IIi
img OMIM, Score=1000, UMLKSK CUI: C0003499
HumanELN2006elastin
img GENERIF, Score=1000, Pubmed Id: 12016585, UMLKSK CUI: C0003499
img OMIM, Score=1000, UMLKSK CUI: C0003499
img OMIM, Score=1000, UMLKSK CUI: C0003499
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0003499Aortic Stenosis, Supravalvular0self