{
    "disease_id": "DOID:0070353",
    "recommended_name": {
        "id": "DOID:0070353",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070353",
        "name": "cataract 47",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea."
    },
    "synonyms": [
        {
            "id": "DOID:0070353",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070353",
            "name": "CTRCT47",
            "description": ""
        },
        {
            "id": "MONDO:0012786",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "name": "juvenile cataract-microcornea-renal glucosuria syndrome",
            "description": "Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects."
        },
        {
            "id": "MONDO:0012786",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "name": "cataract 47, juvenile, with microcornea",
            "description": ""
        },
        {
            "id": "MONDO:0012786",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "name": "juvenile cataract-microcornea-renal glucosuria syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012786",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "name": "CJMG",
            "description": ""
        },
        {
            "id": "MONDO:0012786",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "name": "CTRCT47",
            "description": ""
        },
        {
            "id": "MONDO:0012786",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "name": "cataract, juvenile, with microcornea and glucosuria",
            "description": ""
        },
        {
            "id": "MIM:612018",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612018",
            "name": "Cataract 47",
            "description": "Cataract 47"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070353"
    ],
    "unlinked_id_list": []
}
