Congenital Disorder Of Glycosylation Ir
Disease ID: disease_node_20404
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:12398, MIM:614507, ORDO:300536 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1r |
| Doid Label | congenital disorder of glycosylation Ir |
| Doid Description | A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. |
| Has Symptom | SYMP_0000296 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20404 |
| Doid Id | DOID_0080569 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Ir |
- Outgoing r'ship
HAS_SYMPTOMto/from Hepatic Dysfunction(ID:disease_node_21006) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Disorder Of Glycosylation Type I(ID:disease_node_20399) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)