congenital disorder of glycosylation Ib (DOID:0080554)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1b
Alt IDs: OMIM:602579, ORDO:79319
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.