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.
Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test.
DNA:insertion, DNA:point mutations:G164S, A177D, Q30X ClinVar Annotator: match by term: Fructose-biphosphatase deficiency ClinVar Annotator: match by OMIM:229700 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency ClinVar Annotator: match by term: Fructose intolerance ClinVar Annotator: match by term: Hereditary fructose intolerance ClinVar Annotator: match by OMIM:229600 CTD Direct Evidence: marker/mechanism
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