{
    "disease_id": "DOID:0061263",
    "recommended_name": {
        "id": "DOID:0061263",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061263",
        "name": "lethal congenital contracture syndrome 7",
        "description": "A lethal congenital contracture syndrome characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous mutation in the CNTNAP1 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0014569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014569",
            "name": "lethal congenital contracture syndrome 7",
            "description": "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene."
        },
        {
            "id": "MONDO:0014569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014569",
            "name": "CNTNAP1 lethal congenital contracture syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014569",
            "name": "lethal congenital contracture syndrome 7",
            "description": ""
        },
        {
            "id": "MONDO:0014569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014569",
            "name": "lethal congenital contracture syndrome caused by mutation in CNTNAP1",
            "description": ""
        },
        {
            "id": "MONDO:0014569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014569",
            "name": "lethal congenital contracture syndrome type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014569",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014569",
            "name": "LCCS7",
            "description": ""
        },
        {
            "id": "MIM:616286",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616286",
            "name": "Lethal congenital contracture syndrome 7",
            "description": "Lethal congenital contracture syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061263"
    ],
    "unlinked_id_list": []
}
