{
    "disease_id": "DOID:0112230",
    "recommended_name": {
        "id": "DOID:0112230",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112230",
        "name": "lissencephaly 5",
        "description": "A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112230",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112230",
            "name": "LIS5",
            "description": ""
        },
        {
            "id": "MONDO:0014077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014077",
            "name": "cobblestone lissencephaly without muscular or ocular involvement",
            "description": "Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures."
        },
        {
            "id": "MONDO:0014077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014077",
            "name": "cobblestone lissencephaly without muscular or eye involvement",
            "description": ""
        },
        {
            "id": "MONDO:0014077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014077",
            "name": "cobblestone lissencephaly without muscular or ocular involvement",
            "description": ""
        },
        {
            "id": "MONDO:0014077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014077",
            "name": "lissencephaly type 2 without muscular or eye involvement",
            "description": ""
        },
        {
            "id": "MONDO:0014077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014077",
            "name": "lissencephaly type 2 without muscular or ocular involvement",
            "description": ""
        },
        {
            "id": "MONDO:0014077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014077",
            "name": "lissencephaly type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014077",
            "name": "LIS5",
            "description": ""
        },
        {
            "id": "MONDO:0014077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014077",
            "name": "lissencephaly 5",
            "description": ""
        },
        {
            "id": "MIM:615191",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615191",
            "name": "Lissencephaly 5",
            "description": "Lissencephaly 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112230"
    ],
    "unlinked_id_list": []
}