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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 type 2E
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Accession:DOID:0110165 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. (DO)
Synonyms:exact_synonym: CMT 2E;   CMT2e;   Charcot-Marie-Tooth disease, axonal, Type 2E;   Charcot-Marie-Tooth neuropathy type 2E;   autosomal dominant Charcot-Marie-Tooth disease type 2E
 primary_id: MESH:C537994
 alt_id: OMIM:607684;   RDO:0003923
 xref: NCI:C134953;   ORDO:99939
For additional species annotation, visit the Alliance of Genome Resources.



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Charcot-Marie-Tooth disease type 2E 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 OMIM:607684
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2E
OMIM
ClinVar
PMID:9536098 PMID:10841809 PMID:11220745 PMID:12393795 PMID:12477167 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E ClinVar PMID:9040737 PMID:9371959 PMID:9712007 PMID:21252112 PMID:21692910 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
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 type 2 65
              Charcot-Marie-Tooth disease type 2E 2
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 type 2 65
                    Charcot-Marie-Tooth disease type 2E 2
paths to the root