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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Olivopontocerebellar Atrophies (D009849)
..Starting node ..Olivopontocerebellar Atrophy II, Autosomal Recessive (C564930)
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:

8228

Name:

Olivopontocerebellar Atrophy II, Autosomal Recessive

Definition:

Alternative IDs:

ParentIDs:

MESH:D009849

TreeNumbers:

C10.228.140.079.612.600/C564930 |C10.228.140.252.700.650/C564930 |C10.228.662.550.600/C564930 |C10.228.854.787.750/C564930 |C10.574.500.825.650/C564930 |C10.574.625.600/C564930 |C10.574.750/C564930 |C16.320.400.780.750/C564930

Synonyms:

OPCA II, Fickler-Winkler Type

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C564930
MeSH: C564930
OMIM: 258300;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001251	Ataxia
3	HP:0001260	Dysarthria
4	HP:0002346	Head tremor
5	HP:0002542	Olivopontocerebellar atrophy
6	HP:0002168	Scanning speech

Disease Causing ClinVar Variants