{
    "disease_id": "DOID:0070652",
    "recommended_name": {
        "id": "DOID:0070652",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070652",
        "name": "Nil-Deshwar neurodevelopmental syndrome",
        "description": "A syndrome characterized by a range of congenital anomalies and central nervous system dysfunction, including global developmental delay, feeding difficulties, hypotonia, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DOT1L gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0979246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979246",
            "name": "Nil-Deshwar neurodevelopmental syndrome",
            "description": ""
        },
        {
            "id": "MIM:621265",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621265",
            "name": "Nil-Deshwar neurodevelopmental syndrome",
            "description": "Nil-Deshwar neurodevelopmental syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070652"
    ],
    "unlinked_id_list": []
}