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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 4F
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Accession:DOID:0110193 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 periaxin gene (PRX) on chromosome 19q13. (DO)
Synonyms:exact_synonym: CMT4F;   Charcot-Marie-Tooth disease type 4F, demyelinating
 primary_id: OMIM:614895
 alt_id: RDO:9000225
 xref: ORDO:99952
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Charcot-Marie-Tooth disease type 4F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prx periaxin JBrowse link 1 84,302,074 84,324,560 RGD:7240710
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 4 26
              Charcot-Marie-Tooth disease type 4F 1
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 4 26
                    Charcot-Marie-Tooth disease type 4F 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.