Visualize Submit Comment

Metadata
ID	DOID:0080554
Name	congenital disorder of glycosylation Ib
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
Xrefs	GARD:9830 MIM:602579 ORDO:79319
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1b [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I