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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 4B1
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Accession:DOID:0110191 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). (DO)
Synonyms:exact_synonym: CMT4B;   CMT4B1;   Charcot-Marie-Tooth disease, type 4B;   Charcot-Marie-Tooth neuropathy, type 4B1;   autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
 primary_id: MESH:C535420
 alt_id: OMIM:601382;   RDO:0000521
 xref: ORDO:99955
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Charcot-Marie-Tooth disease type 4B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtmr2 myotubularin related protein 2 JBrowse link 8 12,283,471 12,334,014 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      musculoskeletal system disease 4281
        neuromuscular disease 1522
          Charcot-Marie-Tooth disease 318
            Charcot-Marie-Tooth disease type 4 26
              Charcot-Marie-Tooth disease type 4B1 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          neurodegenerative disease 2694
            Nervous System Heredodegenerative Disorders 1720
              motor peripheral neuropathy 458
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease type 4 26
                    Charcot-Marie-Tooth disease type 4B1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.