Search Ontology:
Human Disease

giant axonal neuropathy 2

Term ID
DOID:0090069
Synonyms
Definition
An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. (3)
References
Ontology
Human Disease   ( DOID:0090069 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models