Statements (14)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:affects |
amino acid transport
|
gptkbp:characterizedBy |
excess excretion of glycine
excess excretion of hydroxyproline excess excretion of proline |
gptkbp:diagnosedBy |
urine amino acid analysis
|
gptkbp:firstDescribed |
1960s
|
https://www.w3.org/2000/01/rdf-schema#label |
iminoglycinuria
|
gptkbp:inheritance |
autosomal recessive
|
gptkbp:mutationAssociatedWith |
SLC36A2 gene
SLC6A19 gene SLC6A20 gene |
gptkbp:bfsParent |
gptkb:SLC6A20
|
gptkbp:bfsLayer |
7
|