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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
 xref: ORDO:99942


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      musculoskeletal system disease 8203
        neuromuscular disease 3029
          Charcot-Marie-Tooth disease 654
            Charcot-Marie-Tooth disease type 2 251
              Charcot-Marie-Tooth disease type 2I 1
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      nervous system disease 13987
        central nervous system disease 12334
          neurodegenerative disease 4852
            Nervous System Heredodegenerative Disorders 3215
              motor peripheral neuropathy 1194
                Charcot-Marie-Tooth disease 654
                  Charcot-Marie-Tooth disease type 2 251
                    Charcot-Marie-Tooth disease type 2I 1
paths to the root