{
    "disease_id": "DOID:0060439",
    "recommended_name": {
        "id": "DOID:0060439",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060439",
        "name": "lysinuric protein intolerance",
        "description": "An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11."
    },
    "synonyms": [
        {
            "id": "DOID:0060439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060439",
            "name": "LPI",
            "description": ""
        },
        {
            "id": "DOID:0060439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060439",
            "name": "dibasic amino aciduria II",
            "description": ""
        },
        {
            "id": "DOID:0060439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060439",
            "name": "hyperdibasic aminoaciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "lysinuric protein intolerance",
            "description": "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism."
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "LPI",
            "description": ""
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "hyperdibasic aminoaciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "hyperdibasic aminoaciduria type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "lysinuric protein intolerance",
            "description": ""
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "Dibasicamino aciduria II",
            "description": ""
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "dibasic aminoaciduria 2",
            "description": ""
        },
        {
            "id": "MIM:222700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222700",
            "name": "Lysinuric protein intolerance",
            "description": "Lysinuric protein intolerance"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060439"
    ],
    "unlinked_id_list": []
}