{
    "disease_id": "DOID:0070408",
    "recommended_name": {
        "id": "DOID:0070408",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070408",
        "name": "Hengel-Maroofian-Schols syndrome",
        "description": "A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0859208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859208",
            "name": "Hengel-Maroofian-Schols syndrome",
            "description": ""
        },
        {
            "id": "MIM:619641",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619641",
            "name": "Hengel-Maroofian-Schols syndrome",
            "description": "Hengel-Maroofian-Schols syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070408"
    ],
    "unlinked_id_list": []
}