| Metadata | |
|---|---|
| ID | DOID:5204 |
| Name | fructose-1,6-bisphosphatase deficiency |
| Definition | 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. http://en.wikipedia.org/wiki/Fructose-1\,6-bisphosphatase_deficiency, http://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency |
| Xrefs |
SNOMEDCT_US_2023_03_01:28183005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
fructose 1 phosphate aldolase deficiency [EXACT] fructose-1,6-diphosphatase deficiency [EXACT] |
| Parent Relationships |