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ONTOLOGY REPORT - ANNOTATIONS


Term:giant axonal neuropathy 2
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Accession:DOID:0090069 term browser browse the term
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. (DO)
Synonyms:exact_synonym: GAN2;   giant axonal neuropathy 2, autosomal dominant;   giant axonal neuropathy, autosomal dominant
 primary_id: MESH:C566444
 alt_id: OMIM:610100;   RDO:0014795
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giant axonal neuropathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcaf8 DDB1 and CUL4 associated factor 8 JBrowse link 13 90,532,153 90,587,542 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                giant axonal neuropathy 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 457
                Giant Axonal Neuropathy 10
                  giant axonal neuropathy 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.