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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 2D
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Accession:DOID:0110164 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding glycyl tRNA synthetase (GARS). (DO)
Synonyms:exact_synonym: CMT2D;   Charcot-Marie-Tooth disease, axonal, Type 2D;   Charcot-Marie-Tooth disease, neuronal, Type 2D;   Charcot-Marie-Tooth neuropathy, type 2D;   autosomal dominant Charcot-Marie-Tooth disease type 2D
 primary_id: MESH:C537993
 alt_id: OMIM:601472
 xref: NCI:C122659;   ORDO:99938
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by OMIM:601472
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D
OMIM
ClinVar
PMID:8872480 PMID:9879677 PMID:10732809 PMID:12690580 PMID:16534118 PMID:17035524 PMID:17101916 PMID:17544401 PMID:17595294 PMID:19329989 PMID:21737751 PMID:24088041 PMID:24669931 PMID:25168514 PMID:25326637 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26138142 PMID:26392352 PMID:26467025 PMID:26503042 PMID:26633545 PMID:27008886 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28492532 PMID:28594869 PMID:29648643 PMID:30311386 PMID:31173493 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        neuromuscular disease 1802
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease type 2D 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          neurodegenerative disease 3235
            Nervous System Heredodegenerative Disorders 1952
              motor peripheral neuropathy 536
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease type 2D 1
paths to the root