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ONTOLOGY REPORT - ANNOTATIONS


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
 primary_id: OMIM:615025
 alt_id: RDO:9001102
 xref: ORDO:329258
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Charcot-Marie-Tooth disease axonal type 2Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        neuromuscular disease 1522
          Charcot-Marie-Tooth disease 318
            Charcot-Marie-Tooth disease type 2 62
              Charcot-Marie-Tooth disease axonal type 2Q 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 458
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease type 2 62
                    Charcot-Marie-Tooth disease axonal type 2Q 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.