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


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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 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 PMID:21493625 PMID:21840889 PMID:22206013 PMID:22288874 PMID:24887401 PMID:25448007 PMID:25552649 PMID:25741868 PMID:25741869 PMID:25877835 PMID:26109717 PMID:26645395 PMID:27206872 PMID:27549087 PMID:28492532 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        neuromuscular disease 1763
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease intermediate type 189
              Charcot-Marie-Tooth disease dominant intermediate G 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          neurodegenerative disease 3216
            Nervous System Heredodegenerative Disorders 1915
              motor peripheral neuropathy 526
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease intermediate type 189
                    Charcot-Marie-Tooth disease dominant intermediate G 1
paths to the root