| Metadata | |
|---|---|
| ID | DOID:0080554 |
| Name | congenital disorder of glycosylation Ib |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital disorder of glycosylation 1b [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some bleeding has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some vomiting |