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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:Folate-Responsive Megaloblastic Anemia
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Accession:DOID:9002017 term browser browse the term
Synonyms:exact_synonym: MEGAF;   folate level in erythrocytes
 primary_id: OMIM:601775
For additional species annotation, visit the Alliance of Genome Resources.



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Folate-Responsive Megaloblastic Anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a1 solute carrier family 19 member 1 ISO OMIM NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      hematopoietic system disease 2693
        anemia 637
          macrocytic anemia 25
            megaloblastic anemia 19
              Folate-Responsive Megaloblastic Anemia 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          anemia 637
            macrocytic anemia 25
              megaloblastic anemia 19
                Folate-Responsive Megaloblastic Anemia 1
paths to the root