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Metadata
ID DOID:0112265
Name iminoglycinuria
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.
https://pubmed.ncbi.nlm.nih.gov/19033659/
Xrefs

GARD:8424

MESH:C536285

MIM:242600

ORDO:42062

Subsets

DO_rare_slim

Parent Relationships

is_a renal tubular transport disease

is_a digenic disease

Subclass Logical Relationships

has material basis in some digenic inheritance

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