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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 neuropathy, type 4D;   HMSN LOM type;   HMSN-LOM;   HMSN4D;   HMSNL;   autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D;   hereditary motor and sensory neuropathy, LOM type
 related_synonym: polyneuropathy, NDRG1-related
 primary_id: MESH:C535716
 alt_id: OMIA:002120;   OMIM:601455
 xref: ORDO:99950
For additional species annotation, visit the Alliance of Genome Resources.

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Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndrg1 N-myc downstream regulated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D OMIM
PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        lipid metabolism disorder 1149
          Refsum disease 9
            Charcot-Marie-Tooth disease type 4D 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          neurodegenerative disease 3882
            Nervous System Heredodegenerative Disorders 2376
              motor peripheral neuropathy 678
                Charcot-Marie-Tooth disease 427
                  Charcot-Marie-Tooth disease type 4 35
                    Charcot-Marie-Tooth disease type 4D 1
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