Term Name: iminoglycinuria
Synonyms:
Definition: A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33.
Ontology: Human Disease [DOID:0112265]   ( DOID:0112265 )

Relationships
is a type of: digenic disease renal tubular transport disease