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Charcot-Marie-Tooth disease, axonal type 2W - Ontology Report - Rat Genome Database

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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, axonal type 2W
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Accession:DOID:0110162 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W;   CMT2W;   Charcot-Marie-Tooth disease type 2W
 primary_id: MIM:616625
 alt_id: RDO:9001390

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Charcot-Marie-Tooth disease, axonal type 2W term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2w OMIM
ClinVar		 PMID:22930593 PMID:24354524 PMID:25741868 PMID:26072516 PMID:26752306 More... NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      musculoskeletal system disease 8461
        neuromuscular disease 3226
          Charcot-Marie-Tooth disease 729
            Charcot-Marie-Tooth disease type 2 319
              Charcot-Marie-Tooth disease, axonal type 2W 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          neurodegenerative disease 5076
            Nervous System Heredodegenerative Disorders 3369
              motor peripheral neuropathy 1303
                Charcot-Marie-Tooth disease 729
                  Charcot-Marie-Tooth disease type 2 319
                    Charcot-Marie-Tooth disease, axonal type 2W 1
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