|OBO ID: DOID:0112265|
|Term Name:||iminoglycinuria||Search Ontology:|
|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/|
|Ontology:||Human Disease (DOID:0112265)|
|is a type of:||
OTHER iminoglycinuria PAGES
|Human Gene||Zebrafish Ortholog||OMIM Term||OMIM Phenotype ID|
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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