{
    "disease_id": "DOID:0111270",
    "recommended_name": {
        "id": "DOID:0111270",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111270",
        "name": "isolated sulfite oxidase deficiency",
        "description": "An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111270",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111270",
            "name": "sulfocysteinuria",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "isolated sulfite oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "ISOD",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "Sulfocysteinuria",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "isolated sulfite oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "sulfite oxidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "sulfite oxidase deficiency, isolated",
            "description": ""
        },
        {
            "id": "MONDO:0010089",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010089",
            "name": "sulfocysteinuria",
            "description": ""
        },
        {
            "id": "MIM:272300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/272300",
            "name": "Sulfite oxidase deficiency, isolated",
            "description": "Sulfite oxidase deficiency, isolated"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111270"
    ],
    "unlinked_id_list": []
}