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Details
Link-It Detail - Disease - Lissencephaly
Debug Stats
  • ### Total Build Time: 202 ms 29.608 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 654 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=16 ms Completed: 16 ms rowSize= 573 bytes
  • CONCEPT_CHILDREN gt=15 ms Completed: 15 ms rowSize= 1.016 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=11 ms Completed: 11 ms rowSize= 2.871 KB
  • CONCEPT_RELATIONSHIPS gt=92 ms Completed: 92 ms rowSize= 7.531 KB
  • CONCEPT_GENES gt=29 ms Completed: 29 ms rowSize= 15.317 KB
  • CONCEPT_XREFS gt=29 ms Completed: 29 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Lissencephaly C0266463
Definition (1)
A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Malformations of Cortical Development C1955869
Children (2)
img Cobblestone Lissencephaly C0431376
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 (16)

Relation Types:
diso_​to_​chem : 3
diso_​to_​diso : 11
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 7
isa : 2
mapped_​to : 6
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN35img genetic aspects C0017399
DISO_to_CHEM14img Microtubule-Associated Proteins C0026045
DISO_to_CHEM11img 1-Alkyl-2-acetylglycerophosphocholine Esterase C0914069
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_CHEM7img Tubulin C0041348
DISO_to_DISO7img Abnormalities, Multiple C0000772
DISO_to_PHYS7img Mutation C0026882
DISO_to_DISOmapped_toimg Arthrogryposis multiplex congenita associated with lissencephaly C2931090
DISO_to_DISOmapped_toimg Autosomal recessive frontotemporal pachygyria C1853215
DISO_to_DISOisaimg Classical Lissencephaly C0431375
DISO_to_DISOisaimg Cobblestone Dysplasia C0431376
DISO_to_DISOmapped_toimg Focal agyria pachygyria C2931166
DISO_to_DISOmapped_toimg Kuzniecky syndrome C1838491
DISO_to_DISOmapped_toimg LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE C0796089
DISO_to_DISOpermuted_term_ofimg Lissencephaly C0266463
DISO_to_DISOmapped_toimg Pachygyria joint contractures facial abnormalities C2931295
Genes (12)

Species:
human : 12
SpeciesGeneGeneIdGene NameEvidence
HumanARX170302aristaless related homeobox
img GENERIF, Score=1000, Pubmed Id: 18975239, UMLKSK CUI: C0266463
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0266463
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
INFERRED, Score=800, UMLKSK CUI: C0266463
HumanPOMT229954protein-O-mannosyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0266463
HumanPOMT110585protein-O-mannosyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0266463
HumanLARGE9215like-glycosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0266463
HumanTUBA1A7846tubulin, alpha 1a
img OMIM, Score=1000, UMLKSK CUI: C0266463
img GENERIF, Score=1000, Pubmed Id: 18728072, UMLKSK CUI: C0266463
img OMIM, Score=1000, UMLKSK CUI: C0266463
HumanYWHAE7531tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0266463
HumanRELN5649reelin
img OMIM, Score=1000, UMLKSK CUI: C0266463
img GENERIF, Score=1000, Pubmed Id: 16266828, UMLKSK CUI: C0266463
HumanPAFAH1B15048platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
img GENERIF, Score=1000, Pubmed Id: 12185771, UMLKSK CUI: C0266463
img GENERIF, Score=1000, Pubmed Id: 17850624, UMLKSK CUI: C0266463
img OMIM, Score=1000, UMLKSK CUI: C0266463
img GENERIF, Score=1000, Pubmed Id: 16642511, UMLKSK CUI: C0266463
HumanFKTN2218fukutin
img OMIM, Score=1000, UMLKSK CUI: C0266463
img OMIM, Score=1000, UMLKSK CUI: C0266463
HumanDCX1641doublecortin
img OMIM, Score=833, UMLKSK CUI: C0266463
img OMIM, Score=1000, UMLKSK CUI: C0266463
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0266463Lissencephaly0self