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ZIRC
OBO ID: DOID:0080554
Term Name: congenital disorder of glycosylation Ib Search Ontology:
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. https://www.omim.org/entry/602579
References:
Ontology: Human Disease   (DOID:0080554)
OTHER congenital disorder of glycosylation Ib PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MPI Congenital disorder of glycosylation, type Ib 602579
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None