{
    "disease_id": "DOID:0111249",
    "recommended_name": {
        "id": "DOID:0111249",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111249",
        "name": "uveal coloboma-cleft lip and palate-intellectual disability",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111249",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111249",
            "name": "Uveal coloboma-cleft lip/palate-mental retardation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111249",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111249",
            "name": "COB1",
            "description": ""
        },
        {
            "id": "DOID:0111249",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111249",
            "name": "coloboma-microphthalmos syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111249",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111249",
            "name": "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate",
            "description": ""
        },
        {
            "id": "DOID:0111249",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111249",
            "name": "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "uveal coloboma-cleft lip and palate-intellectual disability",
            "description": "Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant."
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "COB1",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "coloboma, cleft lip/palate and mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "coloboma, ocular, with or without hearing impairment, cleft LIP/palate, and/or mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "coloboma-microphthalmos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "uveal coloboma-cleft lip/palate-mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007355",
            "name": "coloboma, ocular, with or without hearing impairment, cleft LIP/palate, and/or mental retardation; COB1",
            "description": ""
        },
        {
            "id": "MIM:120433",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/120433",
            "name": "Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability",
            "description": "Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability"
        }
    ]
}