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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 2EE
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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 MPV17 on chromosome 2p23.3. (DO)
Synonyms:exact_synonym: CMT2EE;   Charcot-Marie-Tooth disease, axonal, type 2EE;   Charcot-Marie-Tooth neuropathy, type 2EE
 primary_id: OMIM:618400
For additional species annotation, visit the Alliance of Genome Resources.



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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:20074988 PMID:22508010 PMID:23714749 PMID:24190800 PMID:25129007 More... NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      musculoskeletal system disease 7231
        neuromuscular disease 2223
          Charcot-Marie-Tooth disease 428
            Charcot-Marie-Tooth disease type 2 165
              Charcot-Marie-Tooth disease type 2EE 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          neurodegenerative disease 3902
            Nervous System Heredodegenerative Disorders 2394
              motor peripheral neuropathy 683
                Charcot-Marie-Tooth disease 428
                  Charcot-Marie-Tooth disease type 2 165
                    Charcot-Marie-Tooth disease type 2EE 1
paths to the root