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General Information
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| Term |
spinocerebellar ataxia with axonal neuropathy type 3 |
ID (Ontology) |
DOID:0070465 (Human Disease) |
| Definition |
An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. |
| Also Known As |
"autosomal recessive spinocerebellar ataxia with axonal neuropathy 3" ; "SCAN3" ; "spinocerebellar ataxia with axonal neuropathy 3" |
| Comment |
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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 type 3 | 2 | 1 | 1 | for disease ribbon | spinocerebellar ataxia with axonal neuropathy type 3 | -- | 1 | -- | model of | spinocerebellar ataxia with axonal neuropathy type 3 | 2 | 1 | -- |
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Relationships