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| Term | giant axonal neuropathy 1 | ID (Ontology) | DOID:0090068 (Human Disease) |
| Definition | An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. | ||
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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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autosomal genetic disease |__autosomal recessive disease__ neuropathy | |__axonal neuropathy____________| giant axonal neuropathy 1 |
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| Is a |
autosomal recessive disease axonal neuropathy |
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External Crossreferences & Linkouts
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MESH:D056768 MIM:256850 ORDO:643 |
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