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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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giant axonal neuropathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO OMIM NCBI chrNW_004955468:11,991,779...12,037,541
Ensembl chrNW_004955468:11,991,779...12,036,835
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11876
    Developmental Diseases 8481
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7457
        genetic disease 7032
          monogenic disease 5205
            autosomal genetic disease 4492
              autosomal dominant disease 2911
                giant axonal neuropathy 2 1
Path 2
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        central nervous system disease 7910
          neurodegenerative disease 2808
            Nervous System Heredodegenerative Disorders 1757
              motor peripheral neuropathy 502
                Giant Axonal Neuropathy 10
                  giant axonal neuropathy 2 1
paths to the root