{
    "disease_id": "DOID:0090137",
    "recommended_name": {
        "id": "DOID:0090137",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090137",
        "name": "complex cortical dysplasia with other brain malformations 1",
        "description": "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0090137",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090137",
            "name": "CDCBM1",
            "description": ""
        },
        {
            "id": "DOID:0090137",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090137",
            "name": "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "complex cortical dysplasia with other brain malformations 1",
            "description": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene."
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "complex cortical dysplasia with other brain malformations type 1",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "cortical dysplasia, complex, with other brain malformations 1",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "cortical dysplasia, complex, with other brain malformations 1; CDCBM1",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "CDCBM1",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "TUBB3 complex cortical dysplasia with other brain malformations",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "cortical dysplasia, Complex, with Other brain malformations type 1",
            "description": ""
        },
        {
            "id": "MONDO:0013541",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013541",
            "name": "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation",
            "description": ""
        },
        {
            "id": "MIM:614039",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614039",
            "name": "Cortical dysplasia, complex, with other brain malformations 1",
            "description": "Cortical dysplasia, complex, with other brain malformations 1"
        }
    ]
}