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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease axonal type 2K
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Accession:DOID:0110167 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. (DO)
Synonyms:exact_synonym: ARCMT2K;   CMT 2K;   Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k;   Charcot-Marie-Tooth disease type 2K;   Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K;   Cmt2k;   autosomal recessive Charcot-Marie-Tooth disease with hoarseness;   autosomal recessive axonal CMT4C4;   autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
 narrow_synonym: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2K
 primary_id: MESH:C535418
 alt_id: OMIM:607831;   RDO:0000519
 xref: ORDO:101097
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Charcot-Marie-Tooth disease axonal type 2K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eloc elongin C JBrowse link 5 2,042,991 2,059,357 RGD:8554872
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:7240710
RGD:8554872
RGD:12738396
RGD:12738397
G Jph1 junctophilin 1 JBrowse link 5 1,417,414 1,511,754 RGD:7240710
RGD:8554872
G Ly96 lymphocyte antigen 96 JBrowse link 5 1,972,212 1,989,448 RGD:8554872
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:8554872
G Ube2w ubiquitin-conjugating enzyme E2W JBrowse link 5 29,798,845 29,812,777 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 2K 6
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 2K 6
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