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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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      musculoskeletal system disease 7137
        neuromuscular disease 2186
          Charcot-Marie-Tooth disease 422
            Charcot-Marie-Tooth disease type 2 159
              Charcot-Marie-Tooth disease type 2D 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          neurodegenerative disease 3871
            Nervous System Heredodegenerative Disorders 2365
              motor peripheral neuropathy 673
                Charcot-Marie-Tooth disease 422
                  Charcot-Marie-Tooth disease type 2 159
                    Charcot-Marie-Tooth disease type 2D 1
paths to the root