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Disease association ontology term - MONDO:0015244 - autosomal recessive cerebellar ataxia

Term summary

ID
MONDO:0015244
Name
autosomal recessive cerebellar ataxia
Ontology or CV name
Disease association
Definition
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.

Parents

Annotation

Disease association

MONDO:0015244 - autosomal recessive cerebellar ataxia

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MONDO:0014744 - acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

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MONDO:0014557 - ataxia - oculomotor apraxia type 4

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MONDO:0012784 - autosomal recessive ataxia due to ubiquinone deficiency

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MONDO:0013392 - autosomal recessive spinocerebellar ataxia 10

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MONDO:0014503 - autosomal recessive spinocerebellar ataxia 17

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MONDO:0008943 - autosomal recessive spinocerebellar ataxia 2

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MONDO:0014601 - autosomal recessive spinocerebellar ataxia 20

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MONDO:0044720 - cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

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MONDO:0014104 - cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

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MONDO:0011402 - congenital cataracts-facial dysmorphism-neuropathy syndrome

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MONDO:0100339 - Friedreich ataxia

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MONDO:0100340 - Friedreich ataxia 1

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MONDO:0009567 - Marinesco-Sjogren syndrome

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MONDO:0013931 - peroxisome biogenesis disorder 4B

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MONDO:0014934 - spinocerebellar ataxia, autosomal recessive 24

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MONDO:0033115 - spinocerebellar ataxia, autosomal recessive 25

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MONDO:0032923 - spinocerebellar ataxia, autosomal recessive 28

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MONDO:0030312 - spinocerebellar ataxia, autosomal recessive 29

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MONDO:0030318 - spinocerebellar ataxia, autosomal recessive 30

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MONDO:0030323 - spinocerebellar ataxia, autosomal recessive 31

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MONDO:0011801 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

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MONDO:0018996 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

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