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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 4G
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Accession:DOID:0110196 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth disease, autosomal recessive, type 4g;   Charcot-Marie-Tooth neuropathy type 4G;   Cmt4g;   HMSNR;   hereditary motor and sensory neuropathy Russe type
 primary_id: MESH:C535813
 alt_id: OMIM:605285;   RDO:0001126
 xref: ORDO:99953
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Charcot-Marie-Tooth disease type 4G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hk1 hexokinase 1 JBrowse link 20 31,911,460 31,979,780 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      musculoskeletal system disease 4256
        neuromuscular disease 1504
          Charcot-Marie-Tooth disease 318
            Charcot-Marie-Tooth disease type 4 26
              Charcot-Marie-Tooth disease type 4G 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1719
              motor peripheral neuropathy 457
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease type 4 26
                    Charcot-Marie-Tooth disease type 4G 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.