Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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
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 chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        neuromuscular disease 1879
          Charcot-Marie-Tooth disease 329
            Charcot-Marie-Tooth disease intermediate type 191
              Charcot-Marie-Tooth disease dominant intermediate G 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          neurodegenerative disease 3521
            Nervous System Heredodegenerative Disorders 2133
              motor peripheral neuropathy 502
                Charcot-Marie-Tooth disease 329
                  Charcot-Marie-Tooth disease intermediate type 191
                    Charcot-Marie-Tooth disease dominant intermediate G 1
paths to the root