{
    "disease_id": "DOID:0070282",
    "recommended_name": {
        "id": "DOID:0070282",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070282",
        "name": "primary autosomal recessive microcephaly 8",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q."
    },
    "synonyms": [
        {
            "id": "DOID:0070282",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070282",
            "name": "MCPH8",
            "description": ""
        },
        {
            "id": "MONDO:0013849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013849",
            "name": "microcephaly 8, primary, autosomal recessive",
            "description": "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene."
        },
        {
            "id": "MONDO:0013849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013849",
            "name": "CEP135 autosomal recessive primary microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0013849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013849",
            "name": "autosomal recessive primary microcephaly caused by mutation in CEP135",
            "description": ""
        },
        {
            "id": "MONDO:0013849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013849",
            "name": "microcephaly 8, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013849",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013849",
            "name": "MCPH8",
            "description": ""
        },
        {
            "id": "MIM:614673",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614673",
            "name": "Microcephaly 8, primary, autosomal recessive",
            "description": "Microcephaly 8, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070282"
    ],
    "unlinked_id_list": []
}