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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 2B2
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Accession:DOID:0110179 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. (DO)
Synonyms:exact_synonym: AR-CMT2B2;   ARCMT2B;   Autosomal recessive axonal CMT4C3;   CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2;   CMT 2B2;   CMT2B2;   Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type B2;   Charcot-Marie-Tooth Neuropathy, Type 2B2;   Charcot-Marie-Tooth disease, axonal, Type 2B2;   Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2;   Charcot-Marie-Tooth disease, neuronal, Type 2B2
 primary_id: MESH:C537991
 alt_id: OMIM:605589;   RDO:0003920
 xref: ORDO:101101
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Charcot-Marie-Tooth disease type 2B2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med25 mediator complex subunit 25 JBrowse link 1 100,872,240 100,887,864 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      musculoskeletal system disease 4256
        neuromuscular disease 1504
          Charcot-Marie-Tooth disease 318
            Charcot-Marie-Tooth disease type 2 62
              Charcot-Marie-Tooth disease type 2B2 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1719
              motor peripheral neuropathy 457
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease type 2 62
                    Charcot-Marie-Tooth disease type 2B2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.