|OBO ID: DOID:0080554|
|Term Name:||congenital disorder of glycosylation Ib||Search Ontology:|
|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. https://www.omim.org/entry/602579|
|Ontology:||Human Disease (DOID:0080554)|
|is a type of:||
OTHER congenital disorder of glycosylation Ib PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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