OBO ID: DOID:0090069
Term Name: giant axonal neuropathy 2 Search Ontology:
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 )
OTHER giant axonal neuropathy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DCAF8 ?Giant axonal neuropathy 2, autosomal dominant 610100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None