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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
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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

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Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      musculoskeletal system disease 4281
        neuromuscular disease 1522
          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 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          neurodegenerative disease 2694
            Nervous System Heredodegenerative Disorders 1720
              motor peripheral neuropathy 458
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease type 4 26
                    Charcot-Marie-Tooth disease type 4J 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.