{
    "disease_id": "DOID:0060353",
    "recommended_name": {
        "id": "DOID:0060353",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060353",
        "name": "acrofacial dysostosis Cincinnati type",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0014651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014651",
            "name": "acrofacial dysostosis Cincinnati type",
            "description": "Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene."
        },
        {
            "id": "MONDO:0014651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014651",
            "name": "POLR1A acrofacial dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0014651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014651",
            "name": "acrofacial dysostosis caused by mutation in POLR1A",
            "description": ""
        },
        {
            "id": "MONDO:0014651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014651",
            "name": "AFDCIN",
            "description": ""
        },
        {
            "id": "MONDO:0014651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014651",
            "name": "acrofacial dysostosis, Cincinnati type",
            "description": ""
        },
        {
            "id": "MIM:616462",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616462",
            "name": "Acrofacial dysostosis, Cincinnati type",
            "description": "Acrofacial dysostosis, Cincinnati type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060353"
    ],
    "unlinked_id_list": []
}