{
    "disease_id": "DOID:0060482",
    "recommended_name": {
        "id": "DOID:0060482",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060482",
        "name": "oculoauricular syndrome",
        "description": "A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule."
    },
    "synonyms": [
        {
            "id": "MONDO:0012802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012802",
            "name": "oculoauricular syndrome",
            "description": "Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia)."
        },
        {
            "id": "MONDO:0012802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012802",
            "name": "OCACS",
            "description": ""
        },
        {
            "id": "MONDO:0012802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012802",
            "name": "Schorderet-Munier-Franceschetti syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012802",
            "name": "oculoauricular syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012802",
            "name": "oculoauricular syndrome; OCACS",
            "description": ""
        },
        {
            "id": "MONDO:0012802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012802",
            "name": "oculoauricular syndrome, Schorderet type",
            "description": ""
        },
        {
            "id": "MONDO:0012802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012802",
            "name": "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear",
            "description": ""
        },
        {
            "id": "MIM:612109",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612109",
            "name": "Oculoauricular syndrome",
            "description": "Oculoauricular syndrome"
        }
    ]
}