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.
A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. (DO)
Synonyms:
exact_synonym:
GSD VI; GSD6; Glycogen storage disease 6; Glycogenosis Type VI; Her Disease; Hers Disease; PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER; glycogen storage disease type VI; glycogenosis 6; glycogenosis VI; hepatic glycogen phosphorylase deficiency; hepatophosphorylase deficiency glycogenosis; liver phosphorylase deficiency syndrome
CTD Direct Evidence: marker/mechanism DNA:mutation:multiple DNA:SNPs,insertions,deletions:exons,introns:multiple OMIM:232700 ClinVar Annotator: match by term: Glycogen storage disease, type VI | ClinVar Annotator: match by term: Hepatic glycogen phosphorylase deficiency | ClinVar Annotator: match by term: Hers disease | ClinVar Annotator: match by term: Phosphorylase deficiency glycogen-storage disease of liver