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Disease association ontology term - MONDO:0019792 - autosomal dominant cerebellar ataxia type I

Term summary

ID
MONDO:0019792
Name
autosomal dominant cerebellar ataxia type I
Ontology or CV name
Disease association
Definition
Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.

Parents

Annotation

Disease association

MONDO:0011397 - autosomal dominant cerebellar ataxia, deafness and narcolepsy

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MONDO:0013886 - cerebellar dysfunction with variable cognitive and behavioral abnormalities

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MONDO:0958231 - neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

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MONDO:0011439 - spinocerebellar ataxia type 12

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MONDO:0011781 - spinocerebellar ataxia type 17

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MONDO:0008458 - spinocerebellar ataxia type 2

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MONDO:0012450 - spinocerebellar ataxia type 28

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MONDO:0007574 - spinocerebellar ataxia type 34

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MONDO:0013594 - spinocerebellar ataxia type 36

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