2-oxoadipate mitochondrial transport defect
GPTKB entity
Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
inborn error of metabolism |
| gptkbp:affects |
mitochondrial transport of 2-oxoadipate
|
| gptkbp:causedBy |
mutations in SLC25A21 gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
2-oxoadipate mitochondrial transport defect
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
616053
|
| gptkbp:relatedTo |
2-oxoadipic aciduria
|
| gptkbp:symptom |
hypotonia
seizures developmental delay |
| gptkbp:bfsParent |
gptkb:SLC25A21
|
| gptkbp:bfsLayer |
8
|