{
    "disease_id": "DOID:0112232",
    "recommended_name": {
        "id": "DOID:0112232",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112232",
        "name": "lissencephaly 3",
        "description": "A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12."
    },
    "synonyms": [
        {
            "id": "DOID:0112232",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112232",
            "name": "LIS3",
            "description": ""
        },
        {
            "id": "MONDO:0012703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012703",
            "name": "lissencephaly due to TUBA1A mutation",
            "description": "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis."
        },
        {
            "id": "MONDO:0012703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012703",
            "name": "LIS3",
            "description": ""
        },
        {
            "id": "MONDO:0012703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012703",
            "name": "lissencephaly 3",
            "description": ""
        },
        {
            "id": "MIM:611603",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611603",
            "name": "Lissencephaly 3",
            "description": "Lissencephaly 3"
        }
    ]
}