{
    "disease_id": "DOID:0051041",
    "recommended_name": {
        "id": "DOID:0051041",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051041",
        "name": "primary autosomal recessive microcephaly 30",
        "description": "A primary autosomal recessive microcephaly that is characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0859342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859342",
            "name": "microcephaly 30, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620183",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620183",
            "name": "Microcephaly 30, primary, autosomal recessive",
            "description": "Microcephaly 30, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051041"
    ],
    "unlinked_id_list": []
}