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General Information
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| Term |
spinocerebellar ataxia with axonal neuropathy 2 |
ID (Ontology) |
DOID:0050755 (Human Disease) |
| Definition |
An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. |
| Also Known As |
"AOA2" ; "ataxia with oculomotor apraxia type 2" ; "autosomal recessive spinocerebellar ataxia 1" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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spinocerebellar ataxia with axonal neuropathy 2 | 2 | 2 | 1 | for disease ribbon | spinocerebellar ataxia with axonal neuropathy 2 | -- | 1 | -- | model of | spinocerebellar ataxia with axonal neuropathy 2 | 2 | 1 | -- |
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Relationships