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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


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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 ClinVar Annotator: match by term: Giant axonal neuropathy 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3859241 PMID:24500646 PMID:25741868 PMID:28492532 NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                giant axonal neuropathy 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              motor peripheral neuropathy 1201
                Giant Axonal Neuropathy 10
                  giant axonal neuropathy 2 1
paths to the root