FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term iminoglycinuria ID (Ontology) DOID:0112265 (Human Disease)
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.
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 Genes
 iminoglycinuria      11
 for disease ribbon | iminoglycinuria      11
 model of | iminoglycinuria      11
Spanning Tree (Parents/Children)
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polygenic disease
 |__digenic disease__________________
kidney disease                       |
 |__renal tubular transport disease__|
                                     iminoglycinuria  11 rec.
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Is a digenic disease
renal tubular transport disease
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GARD:8424
MESH:C536285
MIM:242600
ORDO:42062