RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
CDG Ib; CDG, GASTROINTESTINAL TYPE; CDG1B; CDGIb; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; Congenital Disorder of Glycosylation Type 1B; MPI DEFICIENCY; Mannosephosphate isomerase deficiency; Protein-losing enteropathy-hepatic fibrosis syndrome; SLSJ syndrome; Saguenay-Lac Saint-Jean syndrome; carbohydrate-deficient glycoprotein syndrome type 1B; congenital disorder of glycosylation 1b
ClinVar Annotator: match by OMIM:602579 ClinVar Annotator: match by null ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1B ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome