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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


show annotations for term's descendants           Sort by:
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126860531 CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:134259869-134261068 IAGP ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:133,247,626...133,248,825 JBrowse link
G LOC130001212 ATAC-STARR-seq lymphoblastoid silent region 19561 IAGP ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D ClinVar PMID:24136616 NCBI chr 8:133,256,947...133,257,036 JBrowse link
G LOC130001213 ATAC-STARR-seq lymphoblastoid silent region 19562 IAGP ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D ClinVar NCBI chr 8:133,297,133...133,297,582 JBrowse link
G NDRG1 N-myc downstream regulated 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D
ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4D
OMIM:601455
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:10831399 PMID:12872253 PMID:15322984 PMID:16199547 More... NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10568
      disease of metabolism 10568
        lipid metabolism disorder 1831
          Refsum disease 87
            Charcot-Marie-Tooth disease type 4D 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          neurodegenerative disease 6568
            Nervous System Heredodegenerative Disorders 4549
              motor peripheral neuropathy 1566
                Charcot-Marie-Tooth disease 875
                  Charcot-Marie-Tooth disease type 4 89
                    Charcot-Marie-Tooth disease type 4D 4
paths to the root