{
    "disease_id": "DOID:0080106",
    "recommended_name": {
        "id": "DOID:0080106",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080106",
        "name": "microcephaly and chorioretinopathy 2",
        "description": "A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "microcephaly and chorioretinopathy 2",
            "description": "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene."
        },
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "PLK4 microcephaly and chorioretinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "microcephaly and chorioretinopathy caused by mutation in PLK4",
            "description": ""
        },
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "microcephaly and chorioretinopathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "microcephaly and chorioretinopathy, autosomal recessive, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "MCCRP2",
            "description": ""
        },
        {
            "id": "MONDO:0014516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014516",
            "name": "microcephaly and chorioretinopathy, autosomal recessive, 2",
            "description": ""
        },
        {
            "id": "MIM:616171",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616171",
            "name": "Microcephaly and chorioretinopathy, autosomal recessive, 2",
            "description": "Microcephaly and chorioretinopathy, autosomal recessive, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080106"
    ],
    "unlinked_id_list": []
}