Term Name: | congenital disorder of glycosylation Ib |
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Synonyms: | congenital disorder of glycosylation 1b |
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. |
Ontology: | Human Disease [DOID:0080554] ( DOID:0080554 ) |