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Details
Link-It Detail - Disease - Olivopontocerebellar Atrophies
Debug Stats
  • ### Total Build Time: 146 ms 32.583 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 405 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 268 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=12 ms Completed: 12 ms rowSize= 1.417 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=65 ms Completed: 65 ms rowSize= 11.895 KB
  • CONCEPT_RELATIONSHIPS gt=45 ms Completed: 45 ms rowSize= 13.366 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 3.865 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Olivopontocerebellar Atrophies C0028968
Ataxia, Presenile
Definition (1)
A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Spinocerebellar Degenerations C0037952
img Multiple System Atrophy C0393571
img Neurodegenerative Diseases C0524851
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Spinocerebellar Degenerations C0037952
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Spinocerebellar Degenerations C0037952
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Spinocerebellar Degenerations C0037952
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Spinocerebellar Degenerations C0037952
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Multiple System Atrophy C0393571
img Nervous System Diseases C0027765img Autonomic Nervous System Diseases C11456285img Multiple System Atrophy C0393571
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Multiple System Atrophy C0393571
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Multiple System Atrophy C0393571
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248513img Neurodegenerative Diseases C0524851
Relationships (28)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 1
diso_​to_​diso : 18
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 11
is_​associated_​anatomic_​site_​of : 2
isa : 3
mapped_​to : 10
permuted_​term_​of : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN16img genetic aspects C0017399
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_ANAT7img Cerebellum C0007765
DISO_to_ANAT7img Pons C0032639
DISO_to_DISO6img Complication Aspects C1171258
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_ANAT5img Brain C0006104
DISO_to_ANAT4img Cerebellum C0007765
DISO_to_CHEM4img Endoribonucleases C0014241
DISO_to_DISO4img Spinocerebellar Degeneration C0037952
DISO_to_PHYS4img Mutation C0026882
DISO_to_ANATis_associated_anatomic_site_ofimg Central Nervous System C0927232
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_DISOpermuted_term_ofimg Ataxia, Presenile C0028968
DISO_to_DISOmapped_toimg Autosomal dominant cerebellar ataxia, type 2 C2931905
DISO_to_DISOused_forimg Degeneration, Nerve C0027746
DISO_to_DISOmapped_toimg ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAIN DEFECTS C1969084
DISO_to_DISOmapped_toimg Menzel type Olivopontocerebellar atrophy C2931903
DISO_to_DISOmapped_toimg Microcephaly pontocerebellar hypoplasia dyskinesia C2931528
DISO_to_DISOmapped_toimg OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET C1857762
DISO_to_DISOmapped_toimg Olivopontocerebellar atrophy 2 C2931904
DISO_to_DISOisaimg Olivopontocerebellar atrophy with blindness C0393528
DISO_to_DISOisaimg Olivopontocerebellar atrophy with slow eye movement C0393527
DISO_to_DISOmapped_toimg PCH1 C1843504
DISO_to_DISOmapped_toimg PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder) C1842687
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanATXN76314ataxin 7
img OMIM, Score=1000, UMLKSK CUI: C0028968
HumanATXN26311ataxin 2
img OMIM, Score=1000, UMLKSK CUI: C0028968
HumanATXN16310ataxin 1
img OMIM, Score=1000, UMLKSK CUI: C0028968
HumanERCC62074excision repair cross-complementing rodent repair deficiency, complementation group 6
img OMIM, Score=1000, UMLKSK CUI: C0028968
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0028968Olivopontocerebellar Atrophies0self