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.
An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. (DO)
Synonyms:
exact_synonym:
GCGR-RELATED CONDITION; GCGR-related hyperglucagonemia; MVAH; alpha-cell hyperplasia with glucagonemia; nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor