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Details
Link-It Detail - Human Phenotype - Abnormality of the cerebellar vermis
Debug Stats
  • ### Total Build Time: 62 ms 31.725 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 211 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=6 ms Completed: 6 ms rowSize= 444 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 3.449 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=27 ms Completed: 27 ms rowSize= 2.085 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 24.376 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.030 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the cerebellar vermis HP:0002334
Parents (1)
img Cerebellar malformation HP:0002438
Children (10)
img Loss of Purkinje cells in the cerebellar vermis HP:0007001
img Cerebellar vermis hypoplasia HP:0001320
img Cerebellar vermis atrophy HP:0006855
img Aplasia of the inferior half of the cerebellar vermis HP:0007063
img Agenesis of cerebellar vermis HP:0002335
img Dysgenesis of the cerebellar vermis HP:0002195
img Atrophy of cerebellar vermis HP:0007312
img Aplasia/Hypoplasia of the cerebellar vermis HP:0006817
img Disorganization of the anterior cerebellar vermis HP:0007065
img Atrophy of the cerebellar vermis on mri HP:0007121
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:000011810img Cerebellar malformation HP:0002438
img All HP:0000001img Phenotypic abnormality HP:00001187img Cerebellar malformation HP:0002438
Genes (88)

Species:
human : 88
Page Size
Current 25
  Page 1 of 4
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanCCCSX100820758Cerebral-cerebellar-coloboma syndrome, X-linked
img HP RolledUp, OMIM ID: 300864
HumanDEL6PTER100270803Chromosome 6pter deletion syndrome
img HP RolledUp, OMIM ID: 612582
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanSCA29100038747spinocerebellar ataxia 29
img HP RolledUp, OMIM ID: 117360
HumanCHMRQ780925Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion
img HP RolledUp, OMIM ID: 610185
HumanISPD729920isoprenoid synthase domain containing
img HP RolledUp, OMIM ID: 614643
HumanKIF7374654kinesin family member 7
img HP RolledUp, OMIM ID: 200990
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP RolledUp, OMIM ID: 130650
HumanHYLS1219844hydrolethalus syndrome 1
img HP RolledUp, OMIM ID: 236680
HumanASXL1171023additional sex combs like 1 (Drosophila)
img HP RolledUp, OMIM ID: 605039
HumanEVC2132884Ellis van Creveld syndrome 2
img HP RolledUp, OMIM ID: 225500
HumanWDR81124997WD repeat domain 81
img HP RolledUp, OMIM ID: 610185
HumanCEP4195681centrosomal protein 41kDa
img HP RolledUp, OMIM ID: 213300
HumanTMEM6791147transmembrane protein 67
img HP RolledUp, OMIM ID: 607361
img HP RolledUp, OMIM ID: 610688
img HP RolledUp, OMIM ID: 216360
HumanTRAPPC983696trafficking protein particle complex 9
img HP TAS, OMIM ID: 613192
HumanCEP29080184centrosomal protein 290kDa
img HP RolledUp, OMIM ID: 611134
img HP RolledUp, OMIM ID: 610188
img HP RolledUp, OMIM ID: 610189
HumanTCTN279867tectonic family member 2
img HP RolledUp, OMIM ID: 213300
HumanTTC21B79809tetratricopeptide repeat domain 21B
img HP RolledUp, OMIM ID: 213300
HumanDYNC2H179659dynein, cytoplasmic 2, heavy chain 1
img HP RolledUp, OMIM ID: 263520
HumanSRD5A379644steroid 5 alpha-reductase 3
img HP RolledUp, OMIM ID: 612379
HumanTCTN179600tectonic family member 1
img HP RolledUp, OMIM ID: 614173
HumanTMEM23179583transmembrane protein 231
img HP RolledUp, OMIM ID: 213300
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 236670
img HP RolledUp, OMIM ID: 613153
HumanFTO79068fat mass and obesity associated
img HP RolledUp, OMIM ID: 612938
HumanTSEN3479042TSEN34 tRNA splicing endonuclease subunit
img HP RolledUp, OMIM ID: 612390
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002334Abnormality of the cerebellar vermis0self