{
    "disease_id": "DOID:0051012",
    "recommended_name": {
        "id": "DOID:0051012",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051012",
        "name": "Bryant-Li-Bhoj neurodevelopmental syndrome 2",
        "description": "A Bryant-Li-Bhoj neurodevelopmental syndrome that is characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones nd that has_material_basis_in heterozygous mutation in the H3F3B gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0030607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030607",
            "name": "Bryant-Li-Bhoj neurodevelopmental syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0030607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030607",
            "name": "BRYLIB2",
            "description": ""
        },
        {
            "id": "MIM:619721",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619721",
            "name": "Bryant-Li-Bhoj neurodevelopmental syndrome 2",
            "description": "Bryant-Li-Bhoj neurodevelopmental syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051012"
    ],
    "unlinked_id_list": []
}