Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 2EE
go back to main search page
Accession:DOID:0111559 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. (DO)
Synonyms:exact_synonym: CMT2EE;   Charcot-Marie-Tooth disease, axonal, type 2EE;   Charcot-Marie-Tooth neuropathy, type 2EE
 primary_id: MIM:618400


show annotations for term's descendants           Sort by:
Charcot-Marie-Tooth disease type 2EE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16582910 PMID:16909392 PMID:17576681 More... NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:17620486 PMID:25741868 PMID:28492532 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Trim54 tripartite motif-containing 54 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:25741868 PMID:28492532 PMID:30298599 NCBI chr 6:25,239,340...25,258,511
Ensembl chr 6:25,239,340...25,258,511 		JBrowse link
G Ucn urocortin ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2EE ClinVar PMID:25741868 PMID:28492532 PMID:30298599 NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8488
        neuromuscular disease 3198
          Charcot-Marie-Tooth disease 726
            Charcot-Marie-Tooth disease type 2 317
              Charcot-Marie-Tooth disease type 2EE 4
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          neurodegenerative disease 5005
            Nervous System Heredodegenerative Disorders 3344
              motor peripheral neuropathy 1287
                Charcot-Marie-Tooth disease 726
                  Charcot-Marie-Tooth disease type 2 317
                    Charcot-Marie-Tooth disease type 2EE 4
paths to the root