{
    "disease_id": "DOID:0112247",
    "recommended_name": {
        "id": "DOID:0112247",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112247",
        "name": "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder",
        "description": "A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in CDK13 on chromosome 7p14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112247",
            "name": "CDK13-Related CHDFIDD",
            "description": ""
        },
        {
            "id": "DOID:0112247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112247",
            "name": "CDK13-Related Disorder",
            "description": ""
        },
        {
            "id": "DOID:0112247",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112247",
            "name": "CHDFIDD",
            "description": ""
        },
        {
            "id": "MONDO:0044302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044302",
            "name": "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0044302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044302",
            "name": "CHDFIDD",
            "description": ""
        },
        {
            "id": "MONDO:0044302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044302",
            "name": "congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder",
            "description": ""
        },
        {
            "id": "MIM:617360",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617360",
            "name": "Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder",
            "description": "Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"
        }
    ]
}