{
    "disease_id": "DOID:0050656",
    "recommended_name": {
        "id": "DOID:0050656",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050656",
        "name": "pseudo-TORCH syndrome 1",
        "description": "A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "microcephaly-intracranial calcification-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "bilateral band-like calcification with polymicrogyria",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "BLC-PMG",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "BLCPMG",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "Baraitser-Brett-Piesowicz syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "Baraitser-Reardon syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "PTORCH1",
            "description": ""
        },
        {
            "id": "DOID:0050656",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050656",
            "name": "band-like calcification with simplified gyration and polymicrogyria",
            "description": ""
        },
        {
            "id": "MONDO:0020789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020789",
            "name": "pseudo-TORCH syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0020789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020789",
            "name": "pseudo-TORCH syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020789",
            "name": "PTORCH1",
            "description": ""
        },
        {
            "id": "MONDO:0020789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020789",
            "name": "pseudo-TORCH syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0020789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020789",
            "name": "pseudo-TORCH syndrome type 1",
            "description": ""
        },
        {
            "id": "MIM:251290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251290",
            "name": "Pseudo-TORCH syndrome 1",
            "description": "Pseudo-TORCH syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050656"
    ],
    "unlinked_id_list": []
}