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General Information
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| Term |
autosomal recessive distal hereditary motor neuronopathy 8 |
ID (Ontology) |
DOID:0081427 (Human Disease) |
| Definition |
An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. |
| Also Known As |
"sorbitol dehydrogenase deficiency with peripheral neuropathy" ; "SORDD" |
| 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 distal hereditary motor neuronopathy 8 | 3 | 3 | 1 | for disease ribbon | autosomal recessive distal hereditary motor neuronopathy 8 | -- | 3 | -- | model of | autosomal recessive distal hereditary motor neuronopathy 8 | 3 | 3 | -- |
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Relationships