{
    "disease_id": "DOID:0060353", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014651", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014651", 
            "name": "acrofacial dysostosis, Cincinnati type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014651", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014651", 
            "name": "AFDCIN"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014651", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014651", 
            "name": "acrofacial dysostosis caused by mutation in POLR1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014651", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014651", 
            "name": "acrofacial dysostosis, Cincinnati type; AFDCIN"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014651", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014651", 
            "name": "POLR1A acrofacial dysostosis"
        }, 
        {
            "url": "https://www.omim.org/entry/616462", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:616462", 
            "name": "Acrofacial dysostosis, Cincinnati type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060353", 
        "description": "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060353", 
        "name": "acrofacial dysostosis Cincinnati type"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616462", 
            "id": "616462", 
            "database": "MIM"
        }
    ]
}