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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 3
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Accession:DOID:0050540 term browser browse the term
Definition:A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. (DO)
Synonyms:exact_synonym: CMT3;   DSN;   DSS;   Dejerine Sottas disease;   Dejerine Sottas neuropathy;   Dejerine Sottas syndrome;   Dejerine-Sottas hypertrophic neuropathy;   Dejerine-Sottas neuropathy, autosomal dominant;   Dejerine-Sottas syndrome, autosomal dominant;   Dejerine-Sottas syndrome, autosomal recessive;   HMSN type III;   HMSN3;   hereditary motor and sensory neuropathy 3;   hereditary motor and sensory neuropathy type III;   hypertrophic neuropathy of Dejerine Sottas
 primary_id: OMIM:145900
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Charcot-Marie-Tooth disease type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egr2 early growth response 2 JBrowse link 20 22,452,170 22,461,018 RGD:7240710
RGD:8554872
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:7240710
RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:7240710
RGD:8554872
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      musculoskeletal system disease 4281
        neuromuscular disease 1521
          Charcot-Marie-Tooth disease 317
            Charcot-Marie-Tooth disease type 3 5
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          neurodegenerative disease 2692
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 456
                Charcot-Marie-Tooth disease 317
                  Charcot-Marie-Tooth disease type 3 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.