| Metadata | |
|---|---|
| ID | DOID:0090068 |
| Name | giant axonal neuropathy 1 |
| Definition | An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy, https://www.ncbi.nlm.nih.gov/pubmed/30709364, https://www.omim.org/entry/256850 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a axonal neuropathy |