WormBase Tree Display for DO_term: DOID:0080554
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| DOID:0080554 | Name | congenital disorder of glycosylation Ib | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | congenital disorder of glycosylation 1b | |||
| Parent | Is_a | DOID:0050570 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 602579 | |
| Attribute_of | Gene_by_orthology | WBGene00014013 | |||
| WBGene00015464 |
