If you’ve ever found our data helpful, please take our impact survey (15 min). Your replies will help keep the data flowing to the scientific community.


Take Survey

A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. [ url:http://www.ncbi.nlm.nih.gov/books/NBK1312/ http://purl.obolibrary.org/obo/ECO_0007646 url:http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I url:http://en.wikipedia.org/wiki/Von_Gierke%27s_disease http://purl.obolibrary.org/obo/ECO_0007638 ]

Synonyms: Glycogen storage disease, type I von Gierke's disease von Gierke disease glycogen storage disease type I deficiency of glucose-6-phosphatase glycogenosis type I

This is just here as a test because I lose it

Term information

database cross reference
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:2749