congenital disorder of glycosylation Ib

Summary

DOID:0080554 - congenital disorder of glycosylation Ib

Disease 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.

Synonyms: congenital disorder of glycosylation 1b

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mpi

MIM:

MIM:602579 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B

MIM:602579 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital disorder of glycosylation type I (is_a)