iminoglycinuria

GPTKB entity

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