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Details
Link-It Detail - Disease - Aortic Valve Insufficiency
Debug Stats
  • ### Total Build Time: 30 ms 30.032 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 253 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=2 ms Completed: 2 ms rowSize= 556 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.505 KB
  • CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 13.311 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 12.706 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Aortic Valve Insufficiency C0003504
Definition (1)
Dysfunction of the aortic valve, with incomplete valve closure resulting in valvular regurgitation.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Heart Valve Diseases C0018824
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Heart Valve Diseases C0018824
Relationships (62)

Relation Types:
diso_​to_​anat : 18
diso_​to_​diso : 42
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 46
associated_​with : 2
clinically_​similar : 2
has_​cdrh_​parent : 1
is_​associated_​anatomic_​site_​of : 4
isa : 6
location_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT421img Aortic Valve C0003501
DISO_to_DISO241img Aortic Valve Stenosis C0003507
DISO_to_ANAT228img Aortic Valve C0003501
DISO_to_DISO203img Complication Aspects C1171258
DISO_to_DISO174img Complication Aspects C1171258
DISO_to_DISO143img Aortic Valve Stenosis C0003507
DISO_to_DISO98img Aortic Aneurysm C0003486
DISO_to_DISO90img Mitral Valve Insufficiency C0026266
DISO_to_DISO89img Mitral Valve Insufficiency C0026266
DISO_to_ANAT65img Aorta C0003483
DISO_to_DISO62img Aortic Aneurysm C0003486
DISO_to_PHEN53img Failure, Prosthesis C0033586
DISO_to_DISO52img DYSFUNCTION, LEFT VENTRICULAR C0242698
DISO_to_DISO49img Aortic Aneurysm, Thoracic C0162872
DISO_to_DISO42img COMPL POSTOP C0032787
DISO_to_DISO40img ANEURYSM, DISSECTING C0002949
DISO_to_DISO38img Congenital Heart Defects C0018798
DISO_to_DISO35img Bacterial Endocarditis C0014121
DISO_to_ANAT34img Sinus of Valsalva C0037197
DISO_to_DISO34img COMPL POSTOP C0032787
DISO_to_ANAT33img Aorta C0003483
DISO_to_ANAT33img Pulmonary Valve C0034086
DISO_to_DISO33img DYSFUNCTION, LEFT VENTRICULAR C0242698
DISO_to_DISO32img ANEURYSM, DISSECTING C0002949
DISO_to_DISO32img Bacterial Endocarditis C0014121
Genes (13)

Species:
human : 13
SpeciesGeneGeneIdGene NameEvidence
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
img OMIM, Score=1000, UMLKSK CUI: C0003504
HumanGNPTG84572N-acetylglucosamine-1-phosphate transferase, gamma subunit
img OMIM, Score=1000, UMLKSK CUI: C0003504
HumanSLC2A1081031solute carrier family 2 (facilitated glucose transporter), member 10
img OMIM, Score=1000, UMLKSK CUI: C0003504
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img OMIM, Score=1000, UMLKSK CUI: C0003504
HumanMASP210747mannan-binding lectin serine peptidase 2
img GENERIF, Score=1000, Pubmed Id: 18400978, UMLKSK CUI: C0003504
HumanFBLN510516fibulin 5
img OMIM, Score=1000, UMLKSK CUI: C0003504
HumanNPPB4879natriuretic peptide B
img GENERIF, Score=861, Pubmed Id: 18353850, UMLKSK CUI: C0003504
img GENERIF, Score=901, Pubmed Id: 18055041, UMLKSK CUI: C0003504
HumanMBL24153mannose-binding lectin (protein C) 2, soluble
img GENERIF, Score=861, Pubmed Id: 18400978, UMLKSK CUI: C0003504
HumanHLA-B3106
img OMIM, Score=1000, UMLKSK CUI: C0003504
HumanHLA-A3105
img OMIM, Score=1000, UMLKSK CUI: C0003504
HumanFBN12200fibrillin 1
img OMIM, Score=1000, UMLKSK CUI: C0003504
HumanELN2006elastin
img OMIM, Score=1000, UMLKSK CUI: C0003504
HumanCOL1A21278collagen, type I, alpha 2
img OMIM, Score=1000, UMLKSK CUI: C0003504
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0003504Aortic Valve Insufficiency0self