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Details
Link-It Detail - Disease - Diaphragmatic Eventration
Debug Stats
  • ### Total Build Time: 20 ms 13.578 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 394 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 566 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.861 KB
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 5.809 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 2.195 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Diaphragmatic Eventration C0011981
Definition (1)
A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (1)
img Digestive System Abnormalities C0266015
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Digestive System Abnormalities C0266015
img Digestive System Diseases C0012242img Digestive System Abnormalities C02660153img Digestive System Abnormalities C0266015
Relationships (12)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 10


Relationships:
none : 8
isa : 1
location_​of : 1
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO23img Complication Aspects C1171258
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_ANAT10img Diaphragm C0011980
DISO_to_DISO9img Diaphragmatic Hernia C0019284
DISO_to_DISO4img Abnormalities, Multiple C0000772
DISO_to_DISO4img DIAPHRAGMATIC PARALYSIS C0035232
DISO_to_DISO4img Diaphragmatic Hernia C0019284
DISO_to_DISO4img Gastric Volvulus C0038359
DISO_to_ANATlocation_ofimg Diaphragm C0011980
DISO_to_DISOisaimg Congenital eventration of diaphragm C0265701
DISO_to_DISOpermuted_term_ofimg DIAPHRAGM, EVENTRATION C0011981
DISO_to_DISOmapped_toimg Lowry Maclean syndrome C0796020
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSTRA664220stimulated by retinoic acid 6
img OMIM, Score=1000, UMLKSK CUI: C0011981
HumanLRP24036low density lipoprotein receptor-related protein 2
img OMIM, Score=1000, UMLKSK CUI: C0011981
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0011981Diaphragmatic Eventration0self