{
    "disease_id": "DOID:12270",
    "recommended_name": {
        "id": "DOID:12270",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:12270",
        "name": "coloboma",
        "description": "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc."
    },
    "synonyms": [
        {
            "id": "DOID:12270",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:12270",
            "name": "coloboma of eye",
            "description": ""
        },
        {
            "id": "DOID:12270",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:12270",
            "name": "coloboma of macula",
            "description": ""
        },
        {
            "id": "DOID:12270",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:12270",
            "name": "congenital ocular coloboma",
            "description": ""
        },
        {
            "id": "MONDO:0007350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007350",
            "name": "coloboma, ocular, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007350",
            "name": "coloboma, Uveoretinal",
            "description": ""
        },
        {
            "id": "MONDO:0007350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007350",
            "name": "coloboma, ocular, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007350",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007350",
            "name": "coloboma of iris, choroid, and retina",
            "description": ""
        },
        {
            "id": "MONDO:0007351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007351",
            "name": "coloboma of macula",
            "description": "Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders."
        },
        {
            "id": "MONDO:0007351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007351",
            "name": "macular coloboma",
            "description": ""
        },
        {
            "id": "MONDO:0007351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007351",
            "name": "agenesis of macula",
            "description": ""
        },
        {
            "id": "MONDO:0007351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007351",
            "name": "hereditary macular coloboma (subtype)",
            "description": ""
        },
        {
            "id": "MONDO:0007351",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007351",
            "name": "coloboma of macula",
            "description": ""
        },
        {
            "id": "MONDO:0009002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009002",
            "name": "coloboma, ocular, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009002",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009002",
            "name": "coloboma, ocular, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:120200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/120200",
            "name": "Coloboma, ocular, autosomal dominant",
            "description": "Coloboma, ocular, autosomal dominant"
        },
        {
            "id": "MIM:216820",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/216820",
            "name": "Coloboma, ocular, autosomal recessive",
            "description": "Coloboma, ocular, autosomal recessive"
        }
    ]
}