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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 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:10841809 PMID:11220745 PMID:12393795 PMID:12477167 PMID:12481988 PMID:12566280 PMID:14733962 PMID:15111691 PMID:16452125 PMID:16619203 PMID:16930284 PMID:17052987 PMID:17620486 PMID:17881652 PMID:19158810 PMID:19286384 PMID:20039262 PMID:21149811 PMID:21168446 PMID:21493625 PMID:21840889 PMID:22155564 PMID:22206013 PMID:22288874 PMID:22765307 PMID:23618875 PMID:24078732 PMID:24887401 PMID:25264603 PMID:25448007 PMID:25552649 PMID:25741868 PMID:25741869 PMID:25802885 PMID:25877835 PMID:26109717 PMID:26392352 PMID:26467025 PMID:26645395 PMID:27206872 PMID:27549087 PMID:28492532 PMID:28501821 PMID:30311386 PMID:30373780 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
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 PMID:25741868 PMID:26467025 PMID:28333917 PMID:28492532 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        neuromuscular disease 1802
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease type 2E 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          neurodegenerative disease 3235
            Nervous System Heredodegenerative Disorders 1952
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease type 2E 2
paths to the root