Congenital Disorder Of Glycosylation Ib
Disease ID: disease_node_20419
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:9830, MIM:602579, ORDO:79319 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1b |
| Doid Label | congenital disorder of glycosylation Ib |
| Doid Description | 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. |
| Has Symptom | SYMP_0000007, SYMP_0019145 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20419 |
| Doid Id | DOID_0080554 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Ib |
- Outgoing r'ship
HAS_SYMPTOMto/from Vomiting(ID:disease_node_7914;disease_node_20962) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Bleeding(ID:disease_node_21108) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorder Of Glycosylation Type I(ID:disease_node_20399) (Disease)