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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease recessive intermediate B
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Accession:DOID:0110204 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. (DO)
Synonyms:exact_synonym: CMTRIB;   Charcot-Marie-Tooth neuropathy recessive intermediate B;   RI-CMTB;   autosomal recessive intermediate Charcot-Marie-Tooth disease type B
 primary_id: OMIM:613641
 alt_id: RDO:0009924
 xref: ORDO:254334
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Charcot-Marie-Tooth disease recessive intermediate B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kars lysyl-tRNA synthetase JBrowse link 19 44,212,205 44,231,209 RGD:7240710
RGD:8554872
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 JBrowse link 5 169,244,778 169,288,310 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 recessive intermediate B 2
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 recessive intermediate B 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.