{
    "disease_id": "DOID:0112228",
    "recommended_name": {
        "id": "DOID:0112228",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112228",
        "name": "lissencephaly 9 with complex brainstem malformation",
        "description": "A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112228",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112228",
            "name": "LIS9",
            "description": ""
        },
        {
            "id": "DOID:0112228",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112228",
            "name": "posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0032677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032677",
            "name": "lissencephaly 9 with complex brainstem malformation",
            "description": ""
        },
        {
            "id": "MONDO:0032677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032677",
            "name": "LIS9",
            "description": ""
        },
        {
            "id": "MONDO:0032677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032677",
            "name": "LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION",
            "description": ""
        },
        {
            "id": "MIM:618325",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618325",
            "name": "Lissencephaly 9 with complex brainstem malformation",
            "description": "Lissencephaly 9 with complex brainstem malformation"
        }
    ]
}
