{
    "disease_id": "DOID:0080105",
    "recommended_name": {
        "id": "DOID:0080105",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080105",
        "name": "microcephaly and chorioretinopathy 1",
        "description": "A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "microcephaly and chorioretinopathy 1",
            "description": "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy."
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "Pseudotoxoplasmosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "MCCRP1",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "microcephaly and chorioretinopathy, autosomal recessive, 1; MCCRP1",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "microcephaly and chorioretinopathy, autosomal recessive, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "microcephaly and chorioretinopathy, autosomal recessive, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "microcephaly and chorioretinopathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "autosomal recessive chorioretinopathy-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "microcephaly and chorioretinopathy caused by mutation in TUBGCP6",
            "description": ""
        },
        {
            "id": "MONDO:0009624",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009624",
            "name": "TUBGCP6 microcephaly and chorioretinopathy",
            "description": ""
        },
        {
            "id": "MIM:251270",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251270",
            "name": "Microcephaly and chorioretinopathy, autosomal recessive, 1",
            "description": "Microcephaly and chorioretinopathy, autosomal recessive, 1"
        }
    ]
}