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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease type 4D
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Accession:DOID:0110186 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. (DO)
Synonyms:exact_synonym: CMT4D;   Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D;   Charcot-Marie-Tooth neuropathy, type 4D;   HMSN LOM type;   HMSN-LOM;   HMSN4D;   HMSNL;   hereditary motor abd sensory neuropathy LOM type;   hereditary motor and sensory neuropathy, LOM type
 related_synonym: polyneuropathy, NDRG1-related
 primary_id: MESH:C535716
 alt_id: OMIA:002120;   OMIM:601455;   RDO:0000986;   RDO:9002958
 xref: ORDO:99950
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Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        lipid metabolism disorder 736
          Refsum disease 9
            Charcot-Marie-Tooth disease type 4D 1
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 4 26
                    Charcot-Marie-Tooth disease type 4D 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.