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Details
Link-It Detail - Human Phenotype - Abnormality of the cerebellar peduncle
Debug Stats
  • ### Total Build Time: 56 ms 13.974 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 213 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 544 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= 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= 444 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 470 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=29 ms Completed: 29 ms rowSize= 2.085 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 9.080 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.032 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the cerebellar peduncle HP:0011931
Definition (1)
An anomaly of the `cerebellar peduncles` (FMA:77791). The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.
Parents (1)
img Cerebellar malformation HP:0002438
Children (1)
img Abnormality of the superior cerebellar peduncle HP:0011932
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 (13)

Species:
human : 13
SpeciesGeneGeneIdGene NameEvidence
HumanCEP4195681centrosomal protein 41kDa
img HP RolledUp, OMIM ID: 213300
HumanTMEM6791147transmembrane protein 67
HumanCEP29080184centrosomal protein 290kDa
HumanTCTN279867tectonic family member 2
img HP RolledUp, OMIM ID: 213300
HumanTTC21B79809tetratricopeptide repeat domain 21B
img HP RolledUp, OMIM ID: 213300
HumanTMEM23179583transmembrane protein 231
img HP RolledUp, OMIM ID: 213300
HumanC5orf4265250chromosome 5 open reading frame 42
img HP RolledUp, OMIM ID: 213300
HumanINPP5E56623inositol polyphosphate-5-phosphatase, 72 kDa
img HP RolledUp, OMIM ID: 213300
HumanAHI154806Abelson helper integration site 1
img HP RolledUp, OMIM ID: 608629
HumanTMEM13851524transmembrane protein 138
img HP RolledUp, OMIM ID: 213300
HumanTMEM21651259transmembrane protein 216
HumanTCTN326123tectonic family member 3
img HP RolledUp, OMIM ID: 213300
HumanNPHP14867nephronophthisis 1 (juvenile)
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011931Abnormality of the cerebellar peduncle0self