{
    "disease_id": "DOID:0070292",
    "recommended_name": {
        "id": "DOID:0070292",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070292",
        "name": "primary autosomal recessive microcephaly 9",
        "description": "A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070292",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070292",
            "name": "MCPH9",
            "description": ""
        },
        {
            "id": "MONDO:0013923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013923",
            "name": "microcephaly 9, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene."
        },
        {
            "id": "MONDO:0013923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013923",
            "name": "CEP152 autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0013923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013923",
            "name": "autosomal recessive primary microcephaly caused by mutation in CEP152",
            "description": ""
        },
        {
            "id": "MONDO:0013923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013923",
            "name": "microcephaly 9, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013923",
            "name": "MCPH9",
            "description": ""
        },
        {
            "id": "MIM:614852",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614852",
            "name": "Microcephaly 9, primary, autosomal recessive",
            "description": "Microcephaly 9, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070292"
    ],
    "unlinked_id_list": []
}