Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
mitochondrial respiratory chain
|
| gptkbp:alsoKnownAs |
Finnish lethal neonatal metabolic syndrome
|
| gptkbp:characterizedBy |
early death
cholestasis lactic acidosis iron overload growth retardation aminoaciduria |
| gptkbp:firstDescribed |
1995
|
| https://www.w3.org/2000/01/rdf-schema#label |
GRACILE syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
BCS1L gene
|
| gptkbp:namedFor |
Rolf H. S. Jaakkola
|
| gptkbp:OMIM |
603358
|
| gptkbp:prevalence |
higher in Finland
|
| gptkbp:standsFor |
Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death
|
| gptkbp:bfsParent |
gptkb:BCS1L
|
| gptkbp:bfsLayer |
8
|