{
    "disease_id": "DOID:1056",
    "recommended_name": {
        "id": "DOID:1056",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:1056",
        "name": "oculocerebrorenal syndrome",
        "description": "A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney."
    },
    "synonyms": [
        {
            "id": "DOID:1056",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1056",
            "name": "Lowe syndrome",
            "description": ""
        },
        {
            "id": "DOID:1056",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1056",
            "name": "lowe oculocerebrorenal syndrome",
            "description": ""
        },
        {
            "id": "DOID:1056",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1056",
            "name": "oculocerebrorenal syndrome of Lowe",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "oculocerebrorenal syndrome",
            "description": "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure."
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "Lowe disease",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "Lowe oculo-cerebro-renal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "Lowe oculocerebrorenal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "Lowe syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "Lowe syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "OCR",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "OCRL",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "oculo-cerebro-renal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "oculo-cerebro-renal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "oculocerebrorenal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "oculocerebrorenal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "oculocerebrorenal syndrome of Lowe",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "Ocrl1",
            "description": ""
        },
        {
            "id": "MONDO:0010645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010645",
            "name": "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency",
            "description": ""
        },
        {
            "id": "MIM:309000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309000",
            "name": "Lowe oculocerebrorenal syndrome",
            "description": "Lowe oculocerebrorenal syndrome"
        }
    ]
}