{
    "disease_id": "DOID:0060233",
    "recommended_name": {
        "id": "DOID:0060233",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060233",
        "name": "cardiofaciocutaneous syndrome",
        "description": "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes."
    },
    "synonyms": [
        {
            "id": "DOID:0060233",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060233",
            "name": "CFC syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060233",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060233",
            "name": "cardio-facial-cutaneous syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007265",
            "name": "cardiofaciocutaneous syndrome 1",
            "description": "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene."
        },
        {
            "id": "MONDO:0007265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007265",
            "name": "Cfcs",
            "description": ""
        },
        {
            "id": "MONDO:0007265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007265",
            "name": "cardiofaciocutaneous syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007265",
            "name": "CFC syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007265",
            "name": "cardiofaciocutaneous syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007265",
            "name": "cardiofaciocutaneous syndrome caused by mutation in BRAF",
            "description": ""
        },
        {
            "id": "MONDO:0007265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007265",
            "name": "CFC1",
            "description": ""
        },
        {
            "id": "MONDO:0007265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007265",
            "name": "cardiofaciocutaneous syndrome 1; CFC1",
            "description": ""
        },
        {
            "id": "MONDO:0007265",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007265",
            "name": "BRAF cardiofaciocutaneous syndrome",
            "description": ""
        },
        {
            "id": "MIM:115150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/115150",
            "name": "Cardiofaciocutaneous syndrome 1",
            "description": "Cardiofaciocutaneous syndrome 1"
        }
    ]
}