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ONTOLOGY REPORT - ANNOTATIONS
Term:Charcot-Marie-Tooth disease type 4J
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Accession:DOID:0110184 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: CMT4J;   Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j
 primary_id: MESH:C566984
 alt_id: OMIM:611228;   RDO:0015176
 xref: ORDO:139515
For additional species annotation, visit the Alliance of Genome Resources.

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Charcot-Marie-Tooth disease type 4J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 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 4J 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 4J 1
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