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giant axonal neuropathy 1
Summary
- 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.
- Super Class
- autosomal recessive disease axonal neuropathy
External Links
- Disease Ontology
- DOID:0090068
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
