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Details
Link-It Detail - Disease - Periventricular Nodular Heterotopia
Debug Stats
  • ### Total Build Time: 14 ms 13.396 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 434 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 365 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
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  • CONCEPT_RELATIONSHIPS gt=4 ms Completed: 4 ms rowSize= 4.003 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 3.821 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.169 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
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Disease (2)
Periventricular Nodular Heterotopia C1868720
Heterotopia, Periventricular Nodular
Definition (1)
A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Neuronal Migration Disorders C1837249
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Neuronal Migration Disorders C1837249
img Nervous System Diseases C0027765img Nervous System Malformations C04975525img Neuronal Migration Disorders C1837249
Relationships (7)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 4
diso_​to_​phen : 1


Relationships:
none : 4
mapped_​to : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN24img genetic aspects C0017399
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_CHEM9img Contractile Proteins C0009915
DISO_to_CHEM9img Microfilament Protein C0025978
DISO_to_DISOmapped_toimg Heterotopia, Periventricular C2678104
DISO_to_DISOpermuted_term_ofimg Heterotopia, Periventricular Nodular C1868720
DISO_to_DISOmapped_toimg Heterotopia, Periventricular, Associated With Chromosome 5q Deletion C2752071
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanFLNA2316filamin A, alpha
img GENERIF, Score=1000, Pubmed Id: 14718723, UMLKSK CUI: C1868720
img GENERIF, Score=1000, Pubmed Id: 14988809, UMLKSK CUI: C1868720
img GENERIF, Score=1000, Pubmed Id: 15994863, UMLKSK CUI: C1868720
img GENERIF, Score=1000, Pubmed Id: 15249610, UMLKSK CUI: C1868720
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1868720Periventricular Nodular Heterotopia0self