FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term congenital disorder of glycosylation type IIw ID (Ontology) DOID:0051051 (Human Disease)
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.
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 congenital disorder of glycosylation type IIw       1
 for disease ribbon | congenital disorder of glycosylation type IIw       1
 model of | congenital disorder of glycosylation type IIw       1
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autosomal genetic disease
 |__autosomal dominant disease____________________
congenital disorder of glycosylation              |
 |__congenital disorder of glycosylation type II__|
                                                  congenital disorder of glycosylation type IIw  1 rec.
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Is a congenital disorder of glycosylation type II
autosomal dominant disease
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MIM:619525