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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 4J
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Accession:DOID:0110184 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: CMT4J;   Charcot-Marie-Tooth disease, demyelinating, type 4J;   autosomal recessive Charcot-Marie-Tooth disease type 4J
 xref: MESH:C566984;   MIM:611228;   MONDO:0012640;   NCI:C134954;   ORDO:139515


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        neuromuscular disease 3236
          Charcot-Marie-Tooth disease 730
            Charcot-Marie-Tooth disease type 4 63
              Charcot-Marie-Tooth disease type 4J 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          neurodegenerative disease 5086
            Nervous System Heredodegenerative Disorders 3381
              motor peripheral neuropathy 1307
                Charcot-Marie-Tooth disease 730
                  Charcot-Marie-Tooth disease type 4 63
                    Charcot-Marie-Tooth disease type 4J 1
paths to the root