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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 2R
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Accession:DOID:0110161 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R;   CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2R;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R;   CMT2R;   Charcot-Marie-Tooth Disease, Axonal, Type 2R
 primary_id: OMIM:615490
 alt_id: RDO:9000963
 xref: ORDO:397968
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 2R term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim2 tripartite motif-containing 2 ISO ClinVar Annotator: match by OMIM:615490
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R
OMIM
ClinVar
PMID:23562820 PMID:23806086 PMID:24088041 PMID:25893792 PMID:26257172 PMID:28492532 NCBI chr 2:183,145,096...183,223,819
Ensembl chr 2:183,145,089...183,213,228
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      musculoskeletal system disease 5283
        neuromuscular disease 1766
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease type 2R 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              motor peripheral neuropathy 522
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease type 2R 1
paths to the root