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Details
Link-It Detail - Human Phenotype - Abnormality of the cerebellum
Debug Stats
  • ### Total Build Time: 89 ms 33.125 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 204 bytes
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  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 6.327 KB
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  • CONCEPT_GENES gt=43 ms Completed: 43 ms rowSize= 22.346 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of the cerebellum HP:0001317
Definition (1)
An abnormality of the `cerebellum` (FMA:67944).
Parents (2)
img Abnormality of the metencephalon HP:0011283
img Abnormality of the central nervous system HP:0002011
Children (19)
img Atrophy/Degeneration affecting the cerebellum HP:0007368
img Fusion of the cerebellar hemispheres HP:0006899
img Cerebellar malformation HP:0002438
img Dense calcifications in the cerebellar dentate nucleus HP:0002461
img Cerebellar calcifications HP:0007352
img Aplasia/Hypoplasia of the cerebellum HP:0007360
img Cerebellar atrophy HP:0001272
img Recurrent subcortical infarcts HP:0007236
img Cerebellar ataxia HP:0001253
img Olivopontocerebellar hypoplasia HP:0006955
img Olivopontocerebellar atrophy HP:0002542
img Abnormality of the cerebral vasculature HP:0100659
img Ataxia HP:0001251
img Cerebellar dysplasia HP:0007033
img Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord HP:0002405
img Cerebellar hemangioblastoma HP:0006880
img Spinocerebellar tract degeneration HP:0002503
img Enlarged cerebellum HP:0012081
img Abnormality of the dentate nucleus HP:0100321
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the metencephalon HP:0011283
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the central nervous system HP:0002011
Genes (657)

Species:
human : 657
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
HumanSCAR12100820764Spinocerebellar ataxia, autosomal recessive 12
img HP RolledUp, OMIM ID: 614322
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanCCCSX100820758Cerebral-cerebellar-coloboma syndrome, X-linked
img HP RolledUp, OMIM ID: 300864
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanSCA34100750330spinocerebellar ataxia 34
img HP RolledUp, OMIM ID: 133190
HumanDEL7Q11.23100653380
img HP RolledUp, OMIM ID: 613729
HumanMYMY4100653379Moyamoya disease 4
img HP RolledUp, OMIM ID: 300845
HumanDEL1P32P31100532738Chromosome 1p32-p31 deletion syndrome
img HP RolledUp, OMIM ID: 613735
HumanDEL4Q21100528026Chromosome 4q21 deletion syndrome
img HP RolledUp, OMIM ID: 613509
HumanOCLN100506658occludin
img HP RolledUp, OMIM ID: 251290
HumanSPAX3100379201Ataxia, spastic, 3, autosomal recessive
img HP RolledUp, OMIM ID: 611390
HumanSCA30100359393spinocerebellar ataxia 30
img HP RolledUp, OMIM ID: 613371
HumanSCA31100312950spinocerebellar ataxia 31
img HP RolledUp, OMIM ID: 117210
HumanDEL6PTER100270803Chromosome 6pter deletion syndrome
img HP RolledUp, OMIM ID: 612582
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanDEL18Q100216483Chromosome 18q deletion syndrome
img HP RolledUp, OMIM ID: 601808
HumanHPRHP100188880Hypophosphatemic rickets and hyperparathyroidism
img HP RolledUp, OMIM ID: 612089
HumanEA7100188859Episodic ataxia, type 7
HumanMICRODEL3Q29100188788Chromosome 3q29 microdeletion syndrome
HumanCFSS100188773craniofacioskeletal syndrome
img HP RolledUp, OMIM ID: 300712
HumanSCAX5100188768Spinocerebellar ataxia, X-linked 5
img HP RolledUp, OMIM ID: 300703
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanSAX2100126095spastic ataxia 2 (autosomal recessive)
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0001317Abnormality of the cerebellum0self