Mondo Description Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy.

Uniprot Description A severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Axonal loss and the presence of giant axonal swellings filled with neurofilaments on nerve biopsies are the hallmarks of this neurodegenerative disorder.

Disease Ontology Description An axonal neuopathy characterized by autosomal recessive inheritance of progressive motor and sensitive peripheral, central nervous system neuropathy.with axonal loss and giant axonal swellings filled with neurofilaments that has_material_basis_in homozygous or compound heterozygous mutation in the GAN gene on chromosome 16q23.