{
    "disease_id": "DOID:0080635",
    "recommended_name": {
        "id": "DOID:0080635",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080635",
        "name": "optic disc anomalies with retinal and/or macular dystrophy",
        "description": "A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0008927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008927",
            "name": "colobomatous optic disc-macular atrophy-chorioretinopathy syndrome",
            "description": "A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity."
        },
        {
            "id": "MONDO:0008927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008927",
            "name": "ODRMD",
            "description": ""
        },
        {
            "id": "MONDO:0008927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008927",
            "name": "optic DISC anomalies with retinal and/or macular dystrophy",
            "description": ""
        },
        {
            "id": "MIM:212550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212550",
            "name": "Optic disk anomalies with retinal and/or macular dystrophy",
            "description": "Optic disk anomalies with retinal and/or macular dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080635"
    ],
    "unlinked_id_list": []
}