{
    "disease_id": "DOID:0111249", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007355", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007355", 
            "name": "COB1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007355", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007355", 
            "name": "coloboma, cleft lip/palate and mental retardation syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007355", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007355", 
            "name": "coloboma, ocular, with or without hearing impairment, cleft LIP/palate, and/or mental retardation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007355", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007355", 
            "name": "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007355", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007355", 
            "name": "coloboma-microphthalmos syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007355", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007355", 
            "name": "uveal coloboma-cleft lip/palate-mental retardation syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007355", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007355", 
            "name": "coloboma, ocular, with or without hearing impairment, cleft LIP/palate, and/or mental retardation; COB1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111249", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111249", 
            "name": "Uveal coloboma-cleft lip/palate-mental retardation syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111249", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111249", 
            "name": "COB1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111249", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111249", 
            "name": "coloboma-microphthalmos syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111249", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111249", 
            "name": "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111249", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111249", 
            "name": "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111249", 
        "description": "A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111249", 
        "name": "uveal coloboma-cleft lip and palate-intellectual disability"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111249#disease-associations", 
            "id": "0111249", 
            "database": "Alliance of Genome Resources"
        }
    ]
}