{
    "disease_id": "DOID:0111403",
    "recommended_name": {
        "id": "DOID:0111403",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111403",
        "name": "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations",
        "description": "A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in MAST1 on chromosome 19p13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111403",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111403",
            "name": "MCCCHCM",
            "description": ""
        },
        {
            "id": "MONDO:0032648",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032648",
            "name": "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations",
            "description": ""
        },
        {
            "id": "MONDO:0032648",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032648",
            "name": "MCCCHCM",
            "description": ""
        },
        {
            "id": "MONDO:0032648",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032648",
            "name": "MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS",
            "description": ""
        },
        {
            "id": "MIM:618273",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618273",
            "name": "Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations",
            "description": "Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations"
        }
    ]
}