Summary Literature (0)

DOID:0090069 - giant axonal neuropathy 2

Disease Ontology Definition:An axonal neuopathy characterized by autosomal dominant inheritance of distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation that has_material_basis_in heterozygous mutation in the DCAF8 gene on chromosome 1q23

Synonyms:

Xenbase Genes : dcaf8

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012411 - giant axonal neuropathy 2

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

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