{
    "disease_id": "DOID:0060962",
    "recommended_name": {
        "id": "DOID:0060962",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060962",
        "name": "orofaciodigital syndrome XX",
        "description": "An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0958230",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958230",
            "name": "orofaciodigital syndrome 20",
            "description": ""
        },
        {
            "id": "MIM:620718",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620718",
            "name": "Orofaciodigital syndrome 20",
            "description": "Orofaciodigital syndrome 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060962"
    ],
    "unlinked_id_list": []
}