Congenital Disorder Of Glycosylation Ih
Disease ID: disease_node_20413
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:9834, MIM:608104, ORDO:79325 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050570 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation 1h |
| Doid Label | congenital disorder of glycosylation Ih |
| Doid Description | A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14. |
| Has Symptom | SYMP_0000465, SYMP_0020046, SYMP_0000526, SYMP_0000460, SYMP_0000538, SYMP_0000124, SYMP_0019145, SYMP_0000570, SYMP_0000470, SYMP_0000005 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20413 |
| Doid Id | DOID_0080560 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Disorder Of Glycosylation Ih |
- Outgoing r'ship
HAS_SYMPTOMto/from Edema(ID:disease_node_2740;disease_node_21211) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Feeding Problem(ID:disease_node_21453) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Dysentery(ID:disease_node_2637;disease_node_2638) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Seizure(ID:disease_node_21382) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Vomiting(ID:disease_node_7914;disease_node_20962) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Hepatomegaly(ID:disease_node_3929;disease_node_20958) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Failure To Thrive(ID:disease_node_3160;disease_node_21461) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Left Upper Quadrant Abdominal Rigidity(ID:disease_node_21557) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Ataxia(ID:disease_node_1424;disease_node_21621) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Ascites(ID:disease_node_1397;disease_node_21506) (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)