FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term giant axonal neuropathy 2 ID (Ontology) DOID:0090069 (Human Disease)
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.
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 giant axonal neuropathy 2       1
 for disease ribbon | giant axonal neuropathy 2       1
 model of | giant axonal neuropathy 2       1
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autosomal genetic disease
 |__autosomal dominant disease__
neuropathy                      |
 |__axonal neuropathy___________|
                                giant axonal neuropathy 2  1 rec.
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Is a autosomal dominant disease
axonal neuropathy
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MIM:610100