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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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


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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 Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D OMIM
ClinVar		 PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      disease of metabolism 7186
        lipid metabolism disorder 1556
          Refsum disease 81
            Charcot-Marie-Tooth disease type 4D 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          neurodegenerative disease 4736
            Nervous System Heredodegenerative Disorders 3270
              motor peripheral neuropathy 1213
                Charcot-Marie-Tooth disease 667
                  Charcot-Marie-Tooth disease type 4 61
                    Charcot-Marie-Tooth disease type 4D 1
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