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Details
Link-It Detail - Human Phenotype - Abnormal cortical gyration
Debug Stats
  • ### Total Build Time: 47 ms 33.939 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 201 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 236 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 791 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 1.673 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=15 ms Completed: 15 ms rowSize= 5.847 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 24.056 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.021 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal cortical gyration HP:0002536
Definition (1)
An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.
Parents (2)
img Abnormality of neuronal migration HP:0002269
img Abnormality of the cerebral cortex HP:0002538
Children (5)
img Polymicrogyria HP:0002126
img Pachygyria HP:0001302
img Lissencephaly HP:0001339
img Macrogyria HP:0007227
img Cortical gyral simplification HP:0009879
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of neuronal migration HP:0002269
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of neuronal migration HP:0002269
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of neuronal migration HP:0002269
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the cerebral cortex HP:0002538
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the cerebral cortex HP:0002538
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of the cerebral cortex HP:0002538
Genes (97)

Species:
human : 97
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanOCLN100506658occludin
img HP RolledUp, OMIM ID: 251290
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanAOS100188340Adams-Oliver syndrome
img HP RolledUp, OMIM ID: 100300
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanISPD729920isoprenoid synthase domain containing
img HP RolledUp, OMIM ID: 614643
HumanTUBB2B347733tubulin, beta 2B class IIb
img HP RolledUp, OMIM ID: 610031
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img HP IEA, OMIM ID: 219000
HumanDOK7285489docking protein 7
img HP RolledUp, OMIM ID: 208150
HumanWDR62284403WD repeat domain 62
img HP RolledUp, OMIM ID: 604317
img HP RolledUp, OMIM ID: 600176
HumanASPM259266asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
img HP RolledUp, OMIM ID: 608716
HumanHYLS1219844hydrolethalus syndrome 1
img HP IEA, OMIM ID: 236680
HumanARX170302aristaless related homeobox
img HP RolledUp, OMIM ID: 300215
HumanBMPER168667BMP binding endothelial regulator
img HP RolledUp, OMIM ID: 608022
HumanB3GALNT2148789beta-1,3-N-acetylgalactosaminyltransferase 2
img HP RolledUp, OMIM ID: 615181
HumanCCBE1147372collagen and calcium binding EGF domains 1
img HP RolledUp, OMIM ID: 235510
HumanPOMGNT284892protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
img HP RolledUp, OMIM ID: 614830
HumanCOL18A180781collagen, type XVIII, alpha 1
img HP RolledUp, OMIM ID: 267750
HumanFRAS180144Fraser syndrome 1
img HP IEA, OMIM ID: 219000
HumanDYNC2H179659dynein, cytoplasmic 2, heavy chain 1
img HP RolledUp, OMIM ID: 263520
HumanMCPH179648microcephalin 1
img HP RolledUp, OMIM ID: 606858
HumanSRD5A379644steroid 5 alpha-reductase 3
img HP RolledUp, OMIM ID: 612379
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 253280
img HP RolledUp, OMIM ID: 606612
img HP RolledUp, OMIM ID: 236670
img HP RolledUp, OMIM ID: 613153
HumanFTO79068fat mass and obesity associated
img HP RolledUp, OMIM ID: 612938
HumanVIPAS3963894VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
img HP RolledUp, OMIM ID: 613404
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002536Abnormal cortical gyration0self