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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 1B
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Accession:DOID:0110152 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)
Synonyms:exact_synonym: CMT1B;   Charcot Marie Tooth neuropathy, type 1B;   Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B;   Charcot-Marie-Tooth disease, demyelinating, type 1B;   Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy;   Charcot-Marie-Tooth disease, type 1B, with focally folded myelin sheaths;   Charcot-Marie-Tooth disease, type IB;   HMSN 1B;   HMSN IB;   HMSN1B;   hereditary motor and sensory neuropathy IB
 primary_id: OMIM:118200
 alt_id: RDO:9002094
 xref: ORDO:101082
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Charcot-Marie-Tooth disease type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:8554872
RGD:7240710
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 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 type 1 12
              Charcot-Marie-Tooth disease type 1B 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 type 1 12
                    Charcot-Marie-Tooth disease type 1B 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.