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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:riboflavin deficiency
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Accession:DOID:8454 term browser browse the term
Definition:A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis. (DO)
Synonyms:exact_synonym: RBFVD;   RTD1;   ariboflavinosis;   riboflavin deficiencies;   riboflavin transporter deficiency type 1;   vitamin B2 deficiency
 narrow_synonym: MATERNAL RIBOFLAVIN DEFICIENCY
 primary_id: MESH:D012257
 alt_id: OMIM:615026
 xref: ICD10CM:E53.0;   ICD9CM:266.0
For additional species annotation, visit the Alliance of Genome Resources.


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riboflavin deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC52A1 solute carrier family 52 member 1 ISO ClinVar Annotator: match by term: Ariboflavinosis | ClinVar Annotator: match by term: Maternal riboflavin deficiency | ClinVar Annotator: match by term: Riboflavin deficiency OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17689999 PMID:21089064 PMID:23506902 More... NCBI chr17:5,081,139...5,090,445
Ensembl chr17:5,070,372...5,073,211 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      nutrition disease 882
        Malnutrition 330
          nutritional deficiency disease 314
            riboflavin deficiency 1
Path 2
Term Annotations click to browse term
  disease 17996
    Nutritional and Metabolic Diseases 7186
      disease of metabolism 7186
        acquired metabolic disease 2245
          nutrition disease 882
            Malnutrition 330
              nutritional deficiency disease 314
                Avitaminosis 208
                  Vitamin B Deficiency 158
                    riboflavin deficiency 1
paths to the root