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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:folic acid deficiency anemia
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Accession:DOID:14026 term browser browse the term
Definition:A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines. (DO)
Synonyms:exact_synonym: folate-deficiency anaemia;   folate-deficiency anemia;   folate-deficient megaloblastic anaemia;   folic acid deficiencies;   folic acid deficiency;   folic acid deficiency anaemia
 xref: EFO:0001070;   ICD10CM:D52;   ICD9CM:281.2;   MESH:D005494;   MONDO:0001860
For additional species annotation, visit the Alliance of Genome Resources.


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folic acid deficiency anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21310277 NCBI chr 2:25,320,895...25,346,004
Ensembl chr 2:23,586,031...23,613,713 		JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
hereditary folate malabsorption term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sarm1 sterile alpha and TIR motif containing 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar Annotator: match by term: SLC46A1-related condition ClinVar PMID:11807405 PMID:17129779 PMID:17446347 PMID:19740703 PMID:20301716 More... NCBI chr10:63,369,456...63,393,016
Ensembl chr10:63,369,456...63,392,822 		JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: Hereditary Folate Malabsorption | ClinVar Annotator: match by term: SLC46A1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3987728 PMID:11804211 PMID:11807405 PMID:17129779 PMID:17446347 More... NCBI chr10:63,361,504...63,367,940
Ensembl chr10:63,361,486...63,368,848 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      hematopoietic system disease 3844
        anemia 866
          folic acid deficiency anemia 4
            hereditary folate malabsorption 2
Path 2
Term Annotations click to browse term
  disease 19143
    Nutritional and Metabolic Diseases 8546
      disease of metabolism 8546
        acquired metabolic disease 2545
          nutrition disease 1035
            Malnutrition 283
              nutritional deficiency disease 263
                Avitaminosis 219
                  Vitamin B Deficiency 158
                    folic acid deficiency anemia 4
                      hereditary folate malabsorption 2
paths to the root