Term Name: congenital disorder of glycosylation type IIw
Synonyms:
Definition: A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.
Ontology: Human Disease [DOID:0051051]   ( DOID:0051051 )

Relationships
is a type of: autosomal dominant disease congenital disorder of glycosylation type II