Summary Literature (0)

DOID:0090068 - giant axonal neuropathy 1

Disease Ontology Definition: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

Synonyms:

Echinobase Genes :


OMIM:

MIM:256850 - giant axonal neuropathy 1, autosomal recessive; gan1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee