WormBase Tree Display for DO_term: DOID:0090068
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| DOID:0090068 | Name | giant axonal neuropathy 1 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Parent | Is_a | DOID:7319 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 256850 |
