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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 2J
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Accession:DOID:0110157 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)
Synonyms:exact_synonym: CMT 2J;   CMT2J;   Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities;   Charcot-Marie-Tooth neuropathy type 2J;   axonal Charcot-Marie-Tooth disease type 2J
 primary_id: MESH:C535417
 alt_id: OMIM:607736;   RDO:0000518
 xref: ORDO:99943
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Charcot-Marie-Tooth disease type 2J 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:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    sensory system disease 4681
      auditory system disease 684
        inner ear disease 495
          sensorineural hearing loss 459
            Charcot-Marie-Tooth disease type 2J 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 458
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease type 2 62
                    Charcot-Marie-Tooth disease type 2J 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.