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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:Charcot-Marie-Tooth disease dominant intermediate G
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Accession:DOID:0080294 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. (DO)
Synonyms:primary_id: OMIM:617882
 xref: EFO:0010267


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Charcot-Marie-Tooth disease dominant intermediate G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate G OMIM
ClinVar		 PMID:12477167 PMID:12566280 PMID:14733962 PMID:17052987 PMID:19158810 More... NCBI chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      musculoskeletal system disease 7742
        neuromuscular disease 3017
          Charcot-Marie-Tooth disease 645
            Charcot-Marie-Tooth disease intermediate type 253
              Charcot-Marie-Tooth disease dominant intermediate G 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          neurodegenerative disease 4712
            Nervous System Heredodegenerative Disorders 3233
              motor peripheral neuropathy 1186
                Charcot-Marie-Tooth disease 645
                  Charcot-Marie-Tooth disease intermediate type 253
                    Charcot-Marie-Tooth disease dominant intermediate G 1
paths to the root