{
    "disease_id": "DOID:0060233", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007265", 
            "name": "cardiofaciocutaneous syndrome 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007265", 
            "name": "Cfcs"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007265", 
            "name": "CFC syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007265", 
            "name": "cardiofaciocutaneous syndrome type 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007265", 
            "name": "cardiofaciocutaneous syndrome caused by mutation in BRAF"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007265", 
            "name": "CFC1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007265", 
            "name": "cardiofaciocutaneous syndrome 1; CFC1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007265", 
            "name": "BRAF cardiofaciocutaneous syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060233", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060233", 
            "name": "CFC syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060233", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060233", 
            "name": "cardio-facial-cutaneous syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060233", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060233", 
        "name": "cardiofaciocutaneous syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060233#disease-associations", 
            "id": "0060233", 
            "database": "Alliance of Genome Resources"
        }
    ]
}