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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease axonal type 2C
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Accession:DOID:0110182 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. (DO)
Synonyms:exact_synonym: CMT2C;   Charcot-Marie-Tooth Neuropathy, Type 2C;   HMSN IIC;   HMSN2C;   Hereditary Motor and Sensory Neuropathy, Type IIC;   Hereditary motor and sensory neuropathy 2 C;   autosomal cominant axonal Charcot-Marie-Tooth disease type 2C;   autosomal dominant Charcot-Marie-Tooth disease type 2C;   autosomal dominant axonal Charcot-Marie-Tooth disease, type 2C
 primary_id: MESH:C537992;   MESH:C565261
 alt_id: OMIM:606071;   RDO:0003921;   RDO:0013951
 xref: ORDO:99937
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Charcot-Marie-Tooth disease axonal type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:12738395
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        neuromuscular disease 1522
          Charcot-Marie-Tooth disease 318
            Charcot-Marie-Tooth disease type 2 62
              Charcot-Marie-Tooth disease axonal type 2C 2
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 axonal type 2C 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.