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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:
Echinobase Genes :
MIM:610100 - giant axonal neuropathy 2, autosomal dominant; gan2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
axonal neuropathy (is_a)