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Metadata
ID	DOID:0090068
Name	giant axonal neuropathy 1
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. https://www.ncbi.nlm.nih.gov/pubmed/30709364, https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy, https://www.omim.org/entry/256850
Xrefs	MESH:D056768 MIM:256850 ORDO:643
Subsets	DO_rare_slim
Parent Relationships	is_a axonal neuropathy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance