{
    "disease_id": "DOID:0112237",
    "recommended_name": {
        "id": "DOID:0112237",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112237",
        "name": "lissencephaly 1",
        "description": "A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112237",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112237",
            "name": "LIS1",
            "description": ""
        },
        {
            "id": "DOID:0112237",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112237",
            "name": "PAFAH1B1-related lissencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0011830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011830",
            "name": "lissencephaly due to LIS1 mutation",
            "description": "Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia."
        },
        {
            "id": "MONDO:0011830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011830",
            "name": "PAFAH1B1-related lissencephaly",
            "description": ""
        },
        {
            "id": "MONDO:0011830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011830",
            "name": "LIS1",
            "description": ""
        },
        {
            "id": "MONDO:0011830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011830",
            "name": "lissencephaly 1",
            "description": ""
        },
        {
            "id": "MONDO:0011830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011830",
            "name": "lissencephaly sequence, isolated",
            "description": ""
        },
        {
            "id": "MONDO:0011830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011830",
            "name": "lissencephaly, classic",
            "description": ""
        },
        {
            "id": "MONDO:0011830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011830",
            "name": "subcortical band heterotopia",
            "description": ""
        },
        {
            "id": "MONDO:0011830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011830",
            "name": "subcortical laminar heterotopia",
            "description": ""
        },
        {
            "id": "MIM:607432",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607432",
            "name": "Subcortical band heterotopia",
            "description": "Subcortical band heterotopia"
        }
    ]
}