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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease dominant intermediate B
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Accession:DOID:0110197 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). (DO)
Synonyms:exact_synonym: CMTDI1;   CMTDIB;   Charcot-Marie-Tooth Disease, Axonal, Type 2m;   Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B;   DI-CMTB
 narrow_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M;   CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA;   CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M;   CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA;   CMT2M;   CMTDI1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
 primary_id: MESH:C564703
 alt_id: OMIM:606482;   RDO:0013574
 xref: ORDO:100044
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Charcot-Marie-Tooth disease dominant intermediate B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        neuromuscular disease 1520
          Charcot-Marie-Tooth disease 318
            Charcot-Marie-Tooth disease intermediate type 185
              Charcot-Marie-Tooth disease dominant intermediate B 1
                Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia 0
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 457
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease intermediate type 185
                    Charcot-Marie-Tooth disease dominant intermediate B 1
                      Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.