{
    "disease_id": "DOID:0070753",
    "recommended_name": {
        "id": "DOID:0070753",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070753",
        "name": "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter",
        "description": "An autosomal dominant intellectual developmental disorder characterized by severely delayed psychomotor development apparent from infancy including delayed and difficulty walking, intellectual disability, and absent speech; decreased cortical white matter often with other brain anomalies; and variable additional features including hip dysplasia, tapering fingers, and seizures that has_material_basis_in heterozygous mutation in the RAB11B gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070753",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070753",
            "name": "NDAGSCW",
            "description": ""
        },
        {
            "id": "MONDO:0060624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060624",
            "name": "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter",
            "description": ""
        },
        {
            "id": "MONDO:0060624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060624",
            "name": "NDAGSCW",
            "description": ""
        },
        {
            "id": "MIM:617807",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617807",
            "name": "Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter",
            "description": "Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070753"
    ],
    "unlinked_id_list": []
}
