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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease dominant intermediate F
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Accession:DOID:0110206 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. (DO)
Synonyms:exact_synonym: CMTDIF;   autosomal dominant intermediate Charcot-Marie-Tooth disease type F
 primary_id: OMIM:615185
 alt_id: RDO:9000227
 xref: ORDO:352670
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Charcot-Marie-Tooth disease dominant intermediate F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnb4 G protein subunit beta 4 JBrowse link 2 118,978,965 119,007,877 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15271
      musculoskeletal system disease 5536
        neuromuscular disease 1716
          Charcot-Marie-Tooth disease 324
            Charcot-Marie-Tooth disease intermediate type 188
              Charcot-Marie-Tooth disease dominant intermediate F 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15271
      nervous system disease 10767
        central nervous system disease 8858
          neurodegenerative disease 3144
            Nervous System Heredodegenerative Disorders 1897
              motor peripheral neuropathy 521
                Charcot-Marie-Tooth disease 324
                  Charcot-Marie-Tooth disease intermediate type 188
                    Charcot-Marie-Tooth disease dominant intermediate F 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.