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ONTOLOGY REPORT - ANNOTATIONS
Term:Charcot-Marie-Tooth disease axonal type 2S
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Accession:DOID:0110171 term browser browse the term
Definition:A form of autosomal recessive axonal neuropathy characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy affecting both lower and upper limbs.
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S;   CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S;   CMT2S;   Charcot-Marie-Tooth disease type 2S;   autosomal recessive axonal Charcot-Marie-Tooth type 2S
 primary_id: OMIM:616155
 alt_id: RDO:9001125
 xref: ORDO:443073
For additional species annotation, visit the Alliance of Genome Resources.

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Charcot-Marie-Tooth disease axonal type 2S term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ighmbp2 immunoglobulin mu DNA binding protein 2 JBrowse link 1 218,509,274 218,531,922 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 2S 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 2S 1
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