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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 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
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 ClinVar
OMIM
PMID:10831399, PMID:12872253, PMID:15322984, PMID:17470135, PMID:20582309, PMID:21892769, PMID:23393557, PMID:23996628, PMID:24136616, PMID:25108819, PMID:25231362, PMID:25741868, PMID:26002053, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        lipid metabolism disorder 900
          Refsum disease 51
            Charcot-Marie-Tooth disease type 4D 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          neurodegenerative disease 3186
            Nervous System Heredodegenerative Disorders 1947
              motor peripheral neuropathy 537
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease type 4 34
                    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.