{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012991", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012991", 
            "name": "Kahrizi syndrome; KHRZ"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012991", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012991", 
            "name": "KHRZ"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012991", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012991", 
            "name": "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050807", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050807", 
            "name": "intellectual disability-cataract-coloboma-kyphosis syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050807", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050807", 
            "name": "KHRZ"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050807", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050807", 
            "name": "intellectual disability, Kahrizi type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050807", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050807", 
        "name": "Kahrizi syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/612713", 
            "id": "612713", 
            "database": "MIM"
        }
    ]
}