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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 4B3
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Accession:DOID:0110194 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. (DO)
Synonyms:exact_synonym: CMT4B3
 primary_id: OMIM:615284
 alt_id: RDO:9000892
 xref: ORDO:363981
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Charcot-Marie-Tooth disease type 4B3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sbf1 SET binding factor 1 JBrowse link 7 130,261,552 130,288,566 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      musculoskeletal system disease 5124
        neuromuscular disease 1566
          Charcot-Marie-Tooth disease 320
            Charcot-Marie-Tooth disease type 4 34
              Charcot-Marie-Tooth disease type 4B3 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          neurodegenerative disease 2942
            Nervous System Heredodegenerative Disorders 1728
              motor peripheral neuropathy 460
                Charcot-Marie-Tooth disease 320
                  Charcot-Marie-Tooth disease type 4 34
                    Charcot-Marie-Tooth disease type 4B3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.