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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 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        neuromuscular disease 1777
          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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          neurodegenerative disease 3191
            Nervous System Heredodegenerative Disorders 1950
              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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.