Mondo Description Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.
Uniprot Description A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.
Mondo Term and Equivalent IDs
MONDO:0009287: glycogen storage disease due to glucose-6-phosphatase deficiency type IA
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0007864
MESH:C538655
OMIM:232200
Orphanet:79258
SCTID:444707001
UMLS:C2919796
UMLS:CN069618
UMLS:CN205860
MONDO:0009287
High level summary of knowledge for a disease, including descriptions and datasource references.