|  Help  |  About  |  Contact Us

DO Term : congenital disorder of glycosylation Ib [DOID:0080554] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • 602579,
  • congenital disorder of glycosylation 1b,
  • OMIM:602579,
  • GARD:9830,
  • ORDO:79319
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents