Term Name: | congenital disorder of glycosylation type IIw |
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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 ) |