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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Ataxia (D001259)
Parent Node: Cerebellar Diseases (D002526)
..Starting node ..Cerebellar Ataxia (D002524)
Child Nodes:
........3-Methylglutaconic Aciduria, Type V (C565706)
........Aniridia cerebellar ataxia mental deficiency (C536370)
........Ataxia, Spastic, 1, Autosomal Dominant (C566993)
........Ataxia, Spastic, 2, Autosomal Recessive (C566969)
........Ataxia, Spastic, 3, Autosomal Recessive (C566956)
........Autosomal Recessive Cerebellar Ataxia Type 1 (C579934)
........Brachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
........Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia (C566188)
........CAPOS syndrome (C535351)
........Cerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
........Cerebellar Ataxia and Hypogonadotropic Hypogonadism (C565870)
........Cerebellar Ataxia and Neurosensory Deafness (C565869)
........Cerebellar ataxia ectodermal dysplasia (C535350)
........Cerebellar Ataxia, Benign, with Thermoanalgesia (C565868)
........Cerebellar Ataxia, Cayman Type (C563363)
........Cerebellar Ataxia, Deafness, and Narcolepsy (C565825)
........Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 (C567656)
........Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 (C567690)
........Cerebellar hypoplasia with endosteal sclerosis (C535353)
........Cerebelloparenchymal Disorder II (C565866)
........Dementia, familial Danish (C538209)
........Dysequilibrium syndrome (C535731)
........Episodic Ataxia, Type 5 (C566601)
........Episodic Ataxia, Type 6 (C567207)
........Furukawa Takagi Nakao syndrome (C538193)
........Harding ataxia (C535633)
........Hemiplegic migraine, familial type 1 (C536890)
........Herrmann syndrome (C538113)
........Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
........Mainzer-Saldino Disease (C535463)
........Marinesco-Sjogren-like syndrome (MSLS) (C535913)
........Myelocerebellar Disorder (C563233)
........Myoclonus, Cerebellar Ataxia, and Deafness (C563549)
........Neuhauser Eichner Opitz syndrome (C536407)
........Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA (C564014)
........Spinocerebellar Ataxias (D020754) 34
Sister Nodes:
..Arima syndrome (C537430)
..Behrens Baumann Dust syndrome (C537670)
..Cerebellar Ataxia (D002524) 70
..Cerebellar degeneration, subacute (C535352)
..CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 (OMIM:602197)
..Cerebellar Neoplasms (D002528)
..Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
..Cerebelloparenchymal Disorder VI (C563564)
..Dandy-Walker Syndrome (D003616) 13
..Dykes Markes Harper syndrome (C535727)
..Dystonia with Cerebellar Atrophy (C567131)
..Joubert syndrome 1 (C536293)
..Joubert Syndrome 10 (C567582)
..Joubert syndrome 2 (C536294)
..Joubert syndrome 3 (C536295)
..Joubert syndrome 4 (C536296)
..Joubert syndrome 5 (C537688)
..Joubert syndrome 6 (C537689)
..Joubert Syndrome 7 (C566916)
..Joubert Syndrome 8 (C567358)
..Joubert Syndrome 9 (C567364)
..Miller Fisher Syndrome (D019846)
..Paraneoplastic Cerebellar Degeneration (D020362)
..Pontocerebellar Hypoplasia (C580383)
..Pontocerebellar Hypoplasia Type 2B (C567325)
..Pontocerebellar Hypoplasia Type 2C (C567324)
..Porencephaly cerebellar hypoplasia malformations (C536336)
..Spinocerebellar Degenerations (D013132) 85
..Stevenson-Carey Syndrome (C567446)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1913
Name:	Cerebellar Ataxia
Definition:	Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
Alternative IDs:
ParentIDs:	MESH:D001259\|MESH:D002526
TreeNumbers:	C10.228.140.252.190 \|C10.597.350.090.500 \|C23.888.592.350.090.200
Synonyms:	Adiadochokineses \|Adiadochokinesis \|Ataxia, Cerebellar \|Ataxias, Cerebellar \|Cerebellar Ataxias \|Cerebellar Dysmetria \|Cerebellar Dysmetrias \|Cerebellar Hemiataxia \|Cerebellar Hemiataxias \|Cerebellar Incoordination \|Cerebellar Incoordinations \|Dysmetria \|Dysmetria,
Slim Mappings:	Nervous system disease\|Signs and symptoms
Reference:	MedGen: D002524 MeSH: D002524 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants