{
    "disease_id": "DOID:0050807",
    "recommended_name": {
        "id": "DOID:0050807",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050807",
        "name": "Kahrizi syndrome",
        "description": "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050807",
            "name": "intellectual disability-cataract-coloboma-kyphosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050807",
            "name": "KHRZ",
            "description": ""
        },
        {
            "id": "DOID:0050807",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050807",
            "name": "intellectual disability, Kahrizi type",
            "description": ""
        },
        {
            "id": "MONDO:0012991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012991",
            "name": "Kahrizi syndrome",
            "description": "An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene."
        },
        {
            "id": "MONDO:0012991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012991",
            "name": "Kahrizi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012991",
            "name": "KHRZ",
            "description": ""
        },
        {
            "id": "MONDO:0012991",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012991",
            "name": "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:612713",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612713",
            "name": "Kahrizi syndrome",
            "description": "Kahrizi syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050807"
    ],
    "unlinked_id_list": []
}