Search Ontology:
Human Disease

glycogen storage disease Ib

Term ID
DOID:0081330
Synonyms
Definition
A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. https://pubmed.ncbi.nlm.nih.gov/31536830/
References
Ontology
Human Disease   ( DOID:0081330 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models