{
    "disease_id": "DOID:0081387",
    "recommended_name": {
        "id": "DOID:0081387",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081387",
        "name": "neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0957386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957386",
            "name": "neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities",
            "description": ""
        },
        {
            "id": "MIM:620428",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620428",
            "name": "Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities",
            "description": "Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081387"
    ],
    "unlinked_id_list": []
}