{
    "disease_id": "DOID:0061141",
    "recommended_name": {
        "id": "DOID:0061141",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061141",
        "name": "complex cortical dysplasia with other brain malformations 12",
        "description": "A complex cortical dysplasia with other brain malformations characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features that has_material_basis_in homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0061141",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061141",
            "name": "CDCBM12",
            "description": ""
        },
        {
            "id": "MONDO:0957217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957217",
            "name": "cortical dysplasia, complex, with other brain malformations 12",
            "description": ""
        },
        {
            "id": "MIM:620316",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620316",
            "name": "Cortical dysplasia, complex, with other brain malformations 12",
            "description": "Cortical dysplasia, complex, with other brain malformations 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061141"
    ],
    "unlinked_id_list": []
}