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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 1E
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Accession:DOID:0110153 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). (DO)
Synonyms:exact_synonym: CMT1E;   Charcot-Marie-Tooth disease and deafness;   Charcot-Marie-Tooth disease, demyelinating type 1E;   Charcot-Marie-Tooth disease-deafness;   Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant
 primary_id: MESH:C537986;   MESH:C566136
 alt_id: OMIM:118300;   RDO:0003915;   RDO:0014585
 xref: GARD:9190;   ORDO:90658
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Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
RGD:7240710

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 and Deafness 1
              Charcot-Marie-Tooth disease type 1E 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          Otorhinolaryngologic Diseases 1075
            auditory system disease 684
              Hearing Disorders 569
                Hearing Loss 565
                  sensorineural hearing loss 459
                    Charcot-Marie-Tooth Disease and Deafness 1
                      Charcot-Marie-Tooth disease type 1E 1
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