{
    "disease_id": "DOID:0111809",
    "recommended_name": {
        "id": "DOID:0111809",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111809",
        "name": "syndromic microphthalmia 2",
        "description": "A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4."
    },
    "synonyms": [
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111809",
            "name": "MCOPS2",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111809",
            "name": "OFCD syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111809",
            "name": "ANOP2",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111809",
            "name": "MAA2",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111809",
            "name": "oculofaciocardiodental syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111809",
            "name": "syndromic microphthalmia type 2",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111809",
            "name": "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111809",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111809",
            "name": "microphthalmia cataracts radiculomegaly and septal heart defects",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia, syndromic 2",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "OFCD syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia syndromic 2",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia, syndromic 2",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia, syndromic 2, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia, syndromic type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "oculofaciocardiodental syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "ANOP2 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "MAA2 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "MCOPS2",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia cataracts radiculomegaly and septal heart defects",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "microphthalmia, cataracts, radiculomegaly, and septal heart defects",
            "description": ""
        },
        {
            "id": "MONDO:0010261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010261",
            "name": "syndromic microphthalmia type 2",
            "description": ""
        },
        {
            "id": "MIM:300166",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300166",
            "name": "Microphthalmia, syndromic, 2",
            "description": "Microphthalmia, syndromic, 2"
        }
    ]
}