{
    "disease_id": "DOID:0112265",
    "recommended_name": {
        "id": "DOID:0112265",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112265",
        "name": "iminoglycinuria",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0009448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009448",
            "name": "iminoglycinuria",
            "description": "A metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait."
        },
        {
            "id": "MONDO:0009448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009448",
            "name": "iminoglycinuria, digenic",
            "description": ""
        },
        {
            "id": "MONDO:0009448",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009448",
            "name": "iminoglycinuria",
            "description": ""
        },
        {
            "id": "MIM:242600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/242600",
            "name": "Iminoglycinuria",
            "description": "Iminoglycinuria"
        }
    ]
}