{
    "disease_id": "DOID:0081275",
    "recommended_name": {
        "id": "DOID:0081275",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081275",
        "name": "neurodevelopmental disorder with eye movement abnormalities and ataxia",
        "description": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties."
    },
    "synonyms": [
        {
            "id": "DOID:0081275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081275",
            "name": "NEDEMA",
            "description": ""
        },
        {
            "id": "MONDO:0859305",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859305",
            "name": "neurodevelopmental disorder with eye movement abnormalities and ataxia",
            "description": ""
        },
        {
            "id": "MIM:620094",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620094",
            "name": "Neurodevelopmental disorder with eye movement abnormalities and ataxia",
            "description": "Neurodevelopmental disorder with eye movement abnormalities and ataxia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081275"
    ],
    "unlinked_id_list": []
}