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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 2I
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Accession:DOID:0110158 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)
Synonyms:exact_synonym: CMT 2I;   CMT2I;   Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2I;   Charcot-Marie-Tooth disease, axonal, type 2I;   Charcot-Marie-Tooth neuropathy, axonal, type 2I;   Charcot-Marie-Tooth neuropathy, type 2I
 primary_id: MESH:C535416
 alt_id: OMIM:607677;   RDO:0000517
 xref: ORDO:99942
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 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        neuromuscular disease 1835
          Charcot-Marie-Tooth disease 326
            Charcot-Marie-Tooth disease type 2 63
              Charcot-Marie-Tooth disease type 2I 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          neurodegenerative disease 3507
            Nervous System Heredodegenerative Disorders 2118
              motor peripheral neuropathy 497
                Charcot-Marie-Tooth disease 326
                  Charcot-Marie-Tooth disease type 2 63
                    Charcot-Marie-Tooth disease type 2I 1
paths to the root