WormBase Tree Display for DO_term: DOID:5204
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| DOID:5204 | Name | fructose-1,6-bisphosphatase deficiency | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | fructose 1 phosphate aldolase deficiency | |||
| fructose-1,6-diphosphatase deficiency | |||||
| Parent | Is_a | DOID:2978 | |||
| DB_info | Database | OMIM | disease | 229700 | |
| Attribute_of | Gene_by_orthology | WBGene00001404 |
