Metadata | |
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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 | |
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 |