WormBase Tree Display for DO_term: DOID:0111455
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| DOID:0111455 | Name | GRACILE syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. | ||||
| Synonym | Exact | FLNMS | |||
| Fellman disease | |||||
| Finnish lactic acidosis with hepatic hemosiderosis | |||||
| Finnish lethal neonatal metabolic syndrome | |||||
| growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome | |||||
| growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome | |||||
| growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death | |||||
| Parent | Is_a | DOID:700 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 603358 | |
| Attribute_of | Gene_by_orthology | WBGene00010042 |
