{
    "disease_id": "DOID:0081442",
    "recommended_name": {
        "id": "DOID:0081442",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081442",
        "name": "blepharophimosis-impaired intellectual development syndrome",
        "description": "A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24."
    },
    "synonyms": [
        {
            "id": "DOID:0081442",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081442",
            "name": "SMARCA2-related blepharophimosis-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0859139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859139",
            "name": "blepharophimosis-impaired intellectual development syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0859139",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859139",
            "name": "SMARCA2-related blepharophimosis-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MIM:619293",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619293",
            "name": "Blepharophimosis-impaired intellectual development syndrome",
            "description": "Blepharophimosis-impaired intellectual development syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081442"
    ],
    "unlinked_id_list": []
}