loading...| Preferred Name |
fructose-1,6-bisphosphatase deficiency |
| Synonyms |
fructose 1 phosphate aldolase deficiency |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_5204 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
NCI:C128119 GARD:2400 UMLS_CUI:C0016756 SNOMEDCT_US_2022_09_01:28183005 MESH:D015319 ICD10CM:E74.19 OMIM:229700 |
| 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. |
| has exact synonym |
fructose 1 phosphate aldolase deficiency fructose-1,6-diphosphatase deficiency |
| has_obo_namespace |
disease_ontology |
| id |
DOID:5204 |
| in_subset | |
| label |
fructose-1,6-bisphosphatase deficiency |
| notation |
DOID:5204 |
| prefLabel |
fructose-1,6-bisphosphatase deficiency |
| subClassOf |