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Details
Link-It Detail - Disease - Aortopulmonary Septal Defect
Debug Stats
  • ### Total Build Time: 134 ms 17.830 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 453 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=13 ms Completed: 13 ms rowSize= 556 bytes
  • CONCEPT_CHILDREN gt=11 ms Completed: 11 ms rowSize= 568 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=40 ms Completed: 40 ms rowSize= 4.109 KB
  • CONCEPT_RELATIONSHIPS gt=55 ms Completed: 55 ms rowSize= 7.106 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 3.353 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Aortopulmonary Septal Defect C0003516
Definition (1)
A developmental abnormality in which the spiral (aortopulmonary) septum failed to completely divide the TRUNCUS ARTERIOSUS into ASCENDING AORTA and PULMONARY ARTERY. This abnormal communication between the two major vessels usually lies above their respective valves (AORTIC VALVE; PULMONARY VALVE).
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Heart Septal Defects C0018816
Children (1)
img Truncus Arteriosus, Persistent C0041207
Ancestral Roots
RootRoot Plus OneDepthParent
img Cardiovascular Diseases C0007222img Cardiovascular Abnormalities C02430505img Heart Septal Defects C0018816
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Heart Septal Defects C0018816
img Cardiovascular Diseases C0007222img Heart Diseases C00187995img Heart Septal Defects C0018816
Relationships (15)

Relation Types:
diso_​to_​anat : 5
diso_​to_​diso : 10


Relationships:
none : 4
associated_​with : 2
entry_​version_​of : 1
isa : 5
location_​of : 3
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT13img Aorta, Thoracic C1522460
DISO_to_ANAT10img Pulmonary Artery C0034052
DISO_to_DISO9img Abnormalities, Multiple C0000772
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_ANATlocation_ofimg Ascending aorta structure C0003956
DISO_to_ANATlocation_ofimg Atrial Septum C0225836
DISO_to_ANATlocation_ofimg Pulmonary Artery C0034052
DISO_to_DISOassociated_withimg 207 CONGENITAL ABNORMAL COMMUNICATIONS C0332906
DISO_to_DISOentry_version_ofimg Aortopulmonary Septal Defect C0003516
DISO_to_DISOisaimg Aortopulmonary window with tubular connection C3163761
DISO_to_DISOisaimg Confluent aortopulmonary window with minimal superior and inferior rim C3164039
DISO_to_DISOassociated_withimg Congenital Abnormalities C0000768
DISO_to_DISOisaimg Distal aortopulmonary window with minimal superior rim C3164144
DISO_to_DISOisaimg Intermediate aortopulmonary window with adequate superior and inferior rim C3164038
DISO_to_DISOisaimg Proximal aortopulmonary window with minimal inferior rim C3164613
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanNKX2-6137814
INFERRED, Score=800, UMLKSK CUI: C0003516
HumanSTRA664220stimulated by retinoic acid 6
INFERRED, Score=800, UMLKSK CUI: C0003516
HumanCFC155997cripto, FRL-1, cryptic family 1
INFERRED, Score=800, UMLKSK CUI: C0003516
HumanTBX16899T-box 1
INFERRED, Score=800, UMLKSK CUI: C0003516
HumanGDF12657growth differentiation factor 1
INFERRED, Score=800, UMLKSK CUI: C0003516
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0003516Aortopulmonary Septal Defect0self