{
    "disease_id": "DOID:0070468",
    "recommended_name": {
        "id": "DOID:0070468",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070468",
        "name": "Yoon-Bellen neurodevelopmental syndrome",
        "description": "A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0070468",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070468",
            "name": "YOBELN",
            "description": ""
        },
        {
            "id": "MONDO:0859221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859221",
            "name": "Yoon-Bellen neurodevelopmental syndrome",
            "description": ""
        },
        {
            "id": "MIM:619701",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619701",
            "name": "Yoon-Bellen neurodevelopmental syndrome",
            "description": "Yoon-Bellen neurodevelopmental syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070468"
    ],
    "unlinked_id_list": []
}