Glycogen Storage Disease Type I
Disease ID: disease_node_3508
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:E74.01, MESH:D005953, NCI:C84733, ORDO:364, SNOMEDCT_US_2023_03_01:7265005, UMLS_CUI:C0017920 |
|---|---|
| Subclassof | DOID_2747 |
| Data Source | DOID, MESH |
| Synonyms | Glycogen storage disease 1, deficiency of glucose-6-phosphatase, glycogen storage disease type I, glycogenosis type I, von Gierke disease, von Gierke's disease |
| Mesh Id | D005953 |
| Mesh Label | Glycogen Storage Disease Type I |
| Mesh Subclassof | D006008 |
| Doid Label | glycogen storage disease I |
| Doid Description | A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. |
| Existence Starts During | HP_0003593 |
| Disease Node Id | disease_node_3508 |
| Doid Id | DOID_0081329 |
| Label | Glycogen Storage Disease Type I |
- Incoming r'ship
SUBCLASS_OFto/from Glycogen Storage Disease Ia(ID:disease_node_20390) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Glycogen Storage Disease Ib(ID:disease_node_20392) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Glycogen Storage Disease(ID:disease_node_3514) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Glycogen Storage Disease Ic(ID:disease_node_20391) (Disease)