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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 4A
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Accession:DOID:0110185 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. (DO)
Synonyms:exact_synonym: CMT4A;   Charcot-Marie-Tooth disease, demyelinating, autosomal recessive;   Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A;   Charcot-Marie-Tooth neuropathy type 4A
 primary_id: MESH:C535419
 alt_id: OMIM:214400;   RDO:0000520
 xref: ORDO:99948
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Charcot-Marie-Tooth disease type 4A 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:7240710
RGD:8554872
RGD:12738391
RGD:12738393
G Jph1 junctophilin 1 JBrowse link 5 1,417,414 1,511,754 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      musculoskeletal system disease 4281
        neuromuscular disease 1521
          Charcot-Marie-Tooth disease 317
            Charcot-Marie-Tooth disease type 4 26
              Charcot-Marie-Tooth disease type 4A 4
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          neurodegenerative disease 2692
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 456
                Charcot-Marie-Tooth disease 317
                  Charcot-Marie-Tooth disease type 4 26
                    Charcot-Marie-Tooth disease type 4A 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.