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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 X-linked dominant 6
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Accession:DOID:0110207 term browser browse the term
Definition:A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6;   CMT6X;   CMTX6;   X-linked Charcot-Marie-Tooth disease type 6
 primary_id: MIM:300905
 xref: ORDO:352675



show annotations for term's descendants           Sort by:
Charcot-Marie-Tooth disease X-linked dominant 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23297365 PMID:25741868 More... NCBI chr  X:62,480,535...62,547,371 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        neuromuscular disease 3218
          Charcot-Marie-Tooth disease 729
            Charcot-Marie-Tooth disease type X 37
              Charcot-Marie-Tooth disease X-linked dominant 6 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          neurodegenerative disease 5064
            Nervous System Heredodegenerative Disorders 3355
              motor peripheral neuropathy 1293
                Charcot-Marie-Tooth disease 729
                  Charcot-Marie-Tooth disease type X 37
                    Charcot-Marie-Tooth disease X-linked dominant 6 1
paths to the root