Fructose-1,6-Diphosphatase Deficiency
Disease ID: disease_node_8179
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| Dbxref | GARD:2400, ICD10CM:E74.19, MESH:D015319, MIM:229700, NCI:C128119, SNOMEDCT_US_2023_03_01:28183005, UMLS_CUI:C0016756 |
|---|---|
| Subclassof | DOID_2978 |
| Data Source | DOID, MESH |
| Synonyms | fructose 1 phosphate aldolase deficiency, fructose-1,6-diphosphatase deficiency |
| Mesh Id | D015319 |
| Mesh Label | Fructose-1,6-Diphosphatase Deficiency |
| Mesh Subclassof | D015318 |
| Doid Label | fructose-1,6-bisphosphatase deficiency |
| Doid Description | A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_8179 |
| Doid Id | DOID_5204 |
| Label | Fructose-1,6-Diphosphatase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Carbohydrate Metabolism, Inborn Errors(ID:disease_node_1800) (Disease)