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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: Multiple System Atrophy (D019578)
Parent Node: Neurodegenerative Diseases (D019636)
Parent Node: Spinocerebellar Degenerations (D013132)
..Starting node ..Olivopontocerebellar Atrophies (D009849)
Child 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
Sister Nodes:
..Corneal cerebellar syndrome (C535472)
..Friedreich Ataxia (D005621) 6
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Hereditary spinal ataxia (C531684)
..Infantile onset spinocerebellar ataxia (C535523) 1
..Mousa Al din Al Nassar syndrome (C536989)
..Myoclonic Cerebellar Dyssynergia (D002527) 1
..Olivopontocerebellar Atrophies (D009849) 15
..Posterior column ataxia (C536342)
..Sensorimotor neuropathy with ataxia, autosomal dominant (C537197)
..Spinocerebellar ataxia 13 (C537195)
..Spinocerebellar ataxia 14 (C537196)
..Spinocerebellar ataxia 19 (C537198)
..Spinocerebellar ataxia 21 (C537200)
..Spinocerebellar ataxia 22 (C542540)
..Spinocerebellar ataxia 23 (C537201)
..Spinocerebellar ataxia 27 (C537204)
..Spinocerebellar ataxia 28 (C537205)
..Spinocerebellar Ataxia 29 (C537206)
..Spinocerebellar ataxia 8 (C537307)
..Spinocerebellar ataxia, autosomal recessive 1 (C537308)
..Spinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
..Spinocerebellar ataxia, autosomal recessive 3 (C537309)
..Spinocerebellar ataxia, autosomal recessive 4 (C537310)
..Spinocerebellar ataxia, autosomal recessive 5 (C537311)
..Spinocerebellar ataxia, autosomal recessive 6 (C537312)
..Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
..Spinocerebellar ataxia, X-linked, 2 (C537314)
..Spinocerebellar ataxia, X-linked, 4 (C537316)
..Spinocerebellar Ataxias (D020754) 34
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8225
Name:	Olivopontocerebellar Atrophies
Definition:	A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
Alternative IDs:
ParentIDs:	MESH:D013132\|MESH:D019578\|MESH:D019636
TreeNumbers:	C10.228.140.079.612.600 \|C10.228.140.252.700.650 \|C10.228.662.550.600 \|C10.228.854.787.750 \|C10.574.500.825.650 \|C10.574.625.600 \|C10.574.750 \|C16.320.400.780.750
Synonyms:	Ataxia, Presenile \|Ataxias, Presenile \|Atrophy, Familial Olivopontocerebellar \|Atrophy, Idiopathic Olivopontocerebellar \|Atrophy, Inherited Olivopontocerebellar \|Atrophy, Nonfamilial Olivopontocerebellar \|Atrophy, Olivopontocerebellar \|Atrophy, Olivo-Ponto-Cere
Slim Mappings:	Genetic disease (inborn)\|Nervous system disease
Reference:	MedGen: D009849 MeSH: D009849 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants