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Term:giant axonal neuropathy 1
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Accession:DOID:0090068 term browser browse the term
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. (DO)
Synonyms:exact_synonym: GAN1;   giant axonal neuropathy 1 (GAN1);   giant axonal neuropathy 1, autosomal recessive;   giant axonal neuropathy, autosomal recessive
 primary_id: OMIM:256850
 alt_id: RDO:9002729
 xref: ORDO:643
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giant axonal neuropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gan gigaxonin JBrowse link 19 49,692,790 49,746,178 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                giant axonal neuropathy 1 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 458
                Giant Axonal Neuropathy 10
                  giant axonal neuropathy 1 1
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