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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 GARS1 gene. (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: MONDO:0011091;   NCI:C122659;   ORDO:99938

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        neuromuscular disease 2899
          Charcot-Marie-Tooth disease 632
            Charcot-Marie-Tooth disease type 2 251
              Charcot-Marie-Tooth disease type 2D 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          neurodegenerative disease 4479
            Nervous System Heredodegenerative Disorders 3073
              motor peripheral neuropathy 1166
                Charcot-Marie-Tooth disease 632
                  Charcot-Marie-Tooth disease type 2 251
                    Charcot-Marie-Tooth disease type 2D 1
paths to the root