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Details
Link-It Detail - Disease - Neuronal Migration Disorders
Debug Stats
  • ### Total Build Time: 95 ms 17.413 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 ms rowSize= 412 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 441 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=2 ms Completed: 2 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=8 ms Completed: 8 ms rowSize= 573 bytes
  • CONCEPT_CHILDREN gt=9 ms Completed: 9 ms rowSize= 1.459 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 2.871 KB
  • CONCEPT_RELATIONSHIPS gt=17 ms Completed: 17 ms rowSize= 4.203 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 6.114 KB
  • CONCEPT_XREFS gt=12 ms Completed: 12 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Neuronal Migration Disorders C1837249
Disorder, Neuronal Migration
Definition (1)
Disorders resulting from defects in migration of neuronal cells during neurogenesis. Developing nerve cells either fail to migrate or they migrate to incorrect positions resulting in formation of heterotopias, lissencephaly, or other malformations and dysfunctions of the nervous system.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Malformations of Cortical Development C1955869
Children (3)
img Cobblestone Lissencephaly C0431376
img Periventricular Nodular Heterotopia C1868720
img Classical Lissencephalies and Subcortical Band Heterotopias C1955870
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Malformations of Cortical Development C1955869
img Nervous System Diseases C0027765img Nervous System Malformations C04975524img Malformations of Cortical Development C1955869
Relationships (7)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 2
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 4
is_​associated_​anatomic_​site_​of : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN12img genetic aspects C0017399
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_ANAT6img Brain C0006104
DISO_to_PHYS5img Cell Movement C1621968
DISO_to_ANATis_associated_anatomic_site_ofimg Central Nervous System C0927232
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_DISOpermuted_term_ofimg Disorder, Neuronal Migration C1837249
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanFKRP79147fukutin related protein
INFERRED, Score=800, UMLKSK CUI: C1837249
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
INFERRED, Score=800, UMLKSK CUI: C1837249
HumanPOMT229954protein-O-mannosyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C1837249
HumanPOMT110585protein-O-mannosyltransferase 1
img GENERIF, Score=679, Pubmed Id: 12369018, UMLKSK CUI: C1837249
HumanLARGE9215like-glycosyltransferase
INFERRED, Score=800, UMLKSK CUI: C1837249
HumanFLNA2316filamin A, alpha
img OMIM, Score=1000, UMLKSK CUI: C1837249
HumanFKTN2218fukutin
INFERRED, Score=800, UMLKSK CUI: C1837249
HumanCPT21376carnitine palmitoyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C1837249
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1837249Neuronal Migration Disorders0self