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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Olivopontocerebellar Atrophies (D009849)
..Starting node ..Olivopontocerebellar Atrophy V (C563505)
Child Nodes:
Sister Nodes:
..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
..Olivopontocerebellar atrophy 1 (C538626)
..Olivopontocerebellar atrophy 3 (C538631)
..Olivopontocerebellar Atrophy II, Autosomal Recessive (C564930)
..Olivopontocerebellar Atrophy V (C563505)
..Olivopontocerebellar hypoplasia, fetal-onset (C537745)
..Pontocerebellar Hypoplasia Type 1 (C548069)
..Pontocerebellar Hypoplasia Type 2 (C548070)
..Pontocerebellar Hypoplasia Type 2A (C564738)
..Pontocerebellar Hypoplasia Type 3 (C548072)
..Pontocerebellar Hypoplasia Type 6 (C548074)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Atrophy With Pupillary Paralysis (C566668)
..Young McKeever Squier syndrome (C536716) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8229

Name:

Olivopontocerebellar Atrophy V

Definition:

Alternative IDs:

ParentIDs:

MESH:D009849

TreeNumbers:

C10.228.140.079.612.600/C563505 |C10.228.140.252.700.650/C563505 |C10.228.662.550.600/C563505 |C10.228.854.787.750/C563505 |C10.574.500.825.650/C563505 |C10.574.625.600/C563505 |C10.574.750/C563505 |C16.320.400.780.750/C563505

Synonyms:

OPCA with Dementia and Extrapyramidal Signs

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C563505
MeSH: C563505
OMIM: 164700;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002071	Abnormality of extrapyramidal motor function
3	HP:0001251	Ataxia
4	HP:0001272	Cerebellar atrophy
5	HP:0002072	Chorea
6	HP:0000726	Dementia
7	HP:0200147	Neuronal loss in basal ganglia
8	HP:0008303	Olivary degeneration
9	HP:0002542	Olivopontocerebellar atrophy
10	HP:0002063	Rigidity

Disease Causing ClinVar Variants