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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease axonal type 2Z
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Accession:DOID:0110181 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Z;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z;   CMT2Z
 primary_id: OMIM:616688
 alt_id: RDO:9000407
 xref: ORDO:466768
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Charcot-Marie-Tooth disease axonal type 2Z term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Morc2 MORC family CW-type zinc finger 2 JBrowse link 14 83,889,138 83,930,263 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 2 62
              Charcot-Marie-Tooth disease axonal type 2Z 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 2 62
                    Charcot-Marie-Tooth disease axonal type 2Z 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.