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 lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. (DO)
Synonyms:
exact_synonym:
Antopol disease; GSD IIb; GSD2B; Glycogen Storage Disease IIb; Glycogen Storage Disease Limited to the Heart; Glycogen Storage Disease Type 2B; X-linked vacuolar cardiomyopathy and myopathy; glycogen storage cardiomyopathies; glycogen storage cardiomyopathy; glycogen storage disease type IIB; lysosomal glycogen storage disease with normal acid maltase; lysosomal glycogen storage disease without acid maltase deficiency; pseudoglycogenosis 2; pseudoglycogenosis II
in hemizygote mutant male (LAMP2y/-) CTD Direct Evidence: marker/mechanism OMIM:300257 ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy
browse the term
