FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term congenital disorder of glycosylation Ib ID (Ontology) DOID:0080554 (Human Disease)
Definition A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24.
Also Known As "congenital disorder of glycosylation 1b"
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 congenital disorder of glycosylation Ib       1
 for disease ribbon | congenital disorder of glycosylation Ib       1
 model of | congenital disorder of glycosylation Ib       1
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autosomal genetic disease
 |__autosomal recessive disease__________________
congenital disorder of glycosylation             |
 |__congenital disorder of glycosylation type I__|
                                                 congenital disorder of glycosylation Ib  1 rec.
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Is a congenital disorder of glycosylation type I
autosomal recessive disease
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Synonyms
  • "congenital disorder of glycosylation 1b" EXACT
Secondary IDs
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GARD:9830
MIM:602579
ORDO:79319