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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:choline deficiency disease
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Accession:DOID:8456 term browser browse the term
Definition:A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition. (DO)
Synonyms:exact_synonym: choline deficiencies;   choline deficiency
 primary_id: MESH:D002796
For additional species annotation, visit the Alliance of Genome Resources.


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choline deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 IEP
IDA		 mRNA:increased expression:liver:
DNA:hypermethylation:liver:		 RGD PMID:17724018 PMID:17724018 RGD:9588267, RGD:9588267 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Dnmt3l DNA methyltransferase 3 like IEP mRNA:increased expression:liver: RGD PMID:17724018 RGD:9588267 NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516 		JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 IEP
IDA		 mRNA:increased expression:liver:
DNA:hypermethylation:liver:		 RGD PMID:17724018 PMID:17724018 RGD:9588267, RGD:9588267 NCBI chr18:64,174,002...64,240,795
Ensembl chr18:64,174,002...64,240,794 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      nutrition disease 1022
        Malnutrition 273
          nutritional deficiency disease 256
            Avitaminosis 216
              Vitamin B Deficiency 156
                choline deficiency disease 3
Path 2
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        acquired metabolic disease 2481
          nutrition disease 1022
            Malnutrition 273
              nutritional deficiency disease 256
                Avitaminosis 216
                  Vitamin B Deficiency 156
                    choline deficiency disease 3
paths to the root