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General Information
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| Term |
autosomal recessive spinocerebellar ataxia 4 |
ID (Ontology) |
DOID:0111611 (Human Disease) |
| Definition |
An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. |
| Also Known As |
"autosomal recessive cerebellar ataxia-saccadic intrusion syndrome" ; "SCA24" ; "SCAR4" (for all, see Synonyms field below) |
| 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 | 3 | | 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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autosomal recessive spinocerebellar ataxia 4 | 3 | 1 | 1 | for disease ribbon | autosomal recessive spinocerebellar ataxia 4 | -- | 1 | -- | model of | autosomal recessive spinocerebellar ataxia 4 | 3 | 1 | -- |
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Relationships