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Details
Link-It Detail - Disease - Endocardial Cushion Defects
Debug Stats
  • ### Total Build Time: 21 ms 16.818 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 489 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=4 ms Completed: 4 ms rowSize= 556 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 4.109 KB
  • CONCEPT_RELATIONSHIPS gt=6 ms Completed: 6 ms rowSize= 8.372 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 1.590 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Endocardial Cushion Defects C0014116
Definition (1)
A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Heart Septal Defects C0018816
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Heart Septal Defects C0018816
img Cardiovascular Diseases C0007222img Cardiovascular Abnormalities C02430505img Heart Septal Defects C0018816
img Cardiovascular Diseases C0007222img Heart Diseases C00187995img Heart Septal Defects C0018816
Relationships (18)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 14
diso_​to_​phen : 2


Relationships:
none : 9
associated_​with : 2
classified_​as : 2
classifies : 2
isa : 2
location_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO16img Complication Aspects C1171258
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_DISO8img Heart Septal Defects, Ventricular C0018818
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_DISO7img Abnormalities, Multiple C0000772
DISO_to_PHEN7img genetic aspects C0017399
DISO_to_DISO5img Atrial Septal Defects C0018817
DISO_to_ANAT4img Mitral Valve C0026264
DISO_to_DISO4img Atrial Septal Defects C0018817
DISO_to_ANATlocation_ofimg Endocardial Cushions C0231080
DISO_to_DISOassociated_withimg 207 CONGENITAL ABNORMAL COMMUNICATIONS C0332906
DISO_to_DISOisaimg Atrial septal defect with endocardial cushion defect, partial type C0265814
DISO_to_DISOclassifiesimg Cardiac and circulatory congenital anomalies C0810060
DISO_to_DISOisaimg Common atrioventricular canal C0221215
DISO_to_DISOassociated_withimg Congenital failure of fusion C0332915
DISO_to_DISOclassified_asimg Endocard cushion def NEC C0029608
DISO_to_DISOclassifiesimg Endocardial Cushion Defects C0014116
DISO_to_DISOclassified_asimg Persistent Ostium Primum C0031192
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanFGFR22263fibroblast growth factor receptor 2
img GENERIF, Score=1000, Pubmed Id: 17850625, UMLKSK CUI: C0014116
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0014116Endocardial Cushion Defects0self