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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 condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)
Synonyms:exact_synonym: Folate-deficiency anaemia;   folate-deficiency anemia;   folate-deficient megaloblastic anaemia;   folic acid deficiencies;   folic acid deficiency;   folic acid deficiency anaemia
 primary_id: MESH:D005494
 alt_id: RDO:0005619
 xref: ICD10CM:D52;   ICD9CM:281.2
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 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Igf1 insulin-like growth factor 1 IEP protein:decreased expression:serum, cranial bone (rat) RGD PMID:16111879 RGD:12910463 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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: Hereditary Folate Malabsorption ClinVar PMID:11807405, PMID:17129779, PMID:17446347, PMID:20686069 NCBI chr10:65,742,343...65,766,050
Ensembl chr10:65,742,343...65,766,050
JBrowse link
G Slc46a1 solute carrier family 46 member 1 ISO ClinVar Annotator: match by term: Congenital defect of folate absorption
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary Folate Malabsorption
ClinVar Annotator: match by OMIM:229050
OMIM
ClinVar
CTD
PMID:3987728, PMID:11804211, PMID:11807405, PMID:17129779, PMID:17446347, PMID:18559978, PMID:19176287, PMID:20686069, PMID:20795774, PMID:20805364, PMID:21333572, PMID:21346251, PMID:25741868, PMID:28492532 NCBI chr10:65,728,508...65,741,708
Ensembl chr10:65,733,991...65,740,828
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      nutrition disease 921
        Malnutrition 201
          nutritional deficiency disease 193
            folic acid deficiency anemia 4
              hereditary folate malabsorption 2
Path 2
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        acquired metabolic disease 2786
          nutrition disease 921
            Malnutrition 201
              nutritional deficiency disease 193
                Avitaminosis 109
                  Vitamin B Deficiency 68
                    folic acid deficiency anemia 4
                      hereditary folate malabsorption 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.