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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 axonal type 2Q
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Accession:DOID:0110170 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. (DO)
Synonyms:exact_synonym: CMT2Q;   Charcot-Marie-Tooth neuropathy, type 2Q;   autosomal dominant Charcot-Marie-Tooth disease type 2Q;   axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2Q
 broad_synonym: DHTKD1-RELATED CONDITION
 primary_id: OMIM:615025
 xref: ORDO:329258


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Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO
ISS		 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q
CTD Direct Evidence: marker/mechanism
OMIM:615025		 OMIM
ClinVar
CTD
MouseDO		 PMID:16199547 PMID:23141293 PMID:23141294 PMID:25326637 PMID:25741868 More... NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        neuromuscular disease 3059
          Charcot-Marie-Tooth disease 659
            Charcot-Marie-Tooth disease type 2 259
              Charcot-Marie-Tooth disease axonal type 2Q 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              motor peripheral neuropathy 1201
                Charcot-Marie-Tooth disease 659
                  Charcot-Marie-Tooth disease type 2 259
                    Charcot-Marie-Tooth disease axonal type 2Q 1
paths to the root