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Human Disease
congenital disorder of glycosylation Ib
- Term ID
- DOID:0080554
- Synonyms
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- 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
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- GARD:9830
- MIM:602579
- ORDO:79319
- Ontology
- Human Disease ( DOID:0080554 )
- is a type of
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Genes Involved
Zebrafish Models