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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 dominant intermediate D
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Accession:DOID:0110200 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)
Synonyms:exact_synonym: CMTDID;   Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D;   DI-CMTD;   autosomal dominant intermediate Charcot-Marie-Tooth disease type D
 xref: MESH:C564333;   MIM:607791;   MONDO:0011909;   ORDO:100046


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Charcot-Marie-Tooth disease dominant intermediate D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate d 		OMIM
CTD
ClinVar		 PMID:7505151 PMID:7527371 PMID:7581451 PMID:8816708 PMID:8990016 More... NCBI chr13:86,103,290...86,109,156
Ensembl chr13:86,103,290...86,109,155 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate D ClinVar PMID:16987171 PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr13:86,077,133...86,098,025
Ensembl chr13:86,077,134...86,098,044 		JBrowse link
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 intermediate type 262
              Charcot-Marie-Tooth disease dominant intermediate D 2
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 intermediate type 262
                    Charcot-Marie-Tooth disease dominant intermediate D 2
paths to the root