{
    "disease_id": "DOID:0061266",
    "recommended_name": {
        "id": "DOID:0061266",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061266",
        "name": "lethal congenital contracture syndrome 10",
        "description": "A lethal congenital contracture syndrome characterized by fetal akinesia, multiple contractures, shortening of upper and lower limbs, and narrow chest and thorax that has_material_basis_in homozygous mutation in the NEK9 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0014870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014870",
            "name": "NEK9-related lethal skeletal dysplasia",
            "description": "NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated."
        },
        {
            "id": "MONDO:0014870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014870",
            "name": "LCCS10",
            "description": ""
        },
        {
            "id": "MONDO:0014870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014870",
            "name": "lethal congenital contracture syndrome 10",
            "description": ""
        },
        {
            "id": "MONDO:0014870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014870",
            "name": "lethal congenital contracture syndrome type 10",
            "description": ""
        },
        {
            "id": "MONDO:0014870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014870",
            "name": "lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MIM:617022",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617022",
            "name": "Lethal congenital contracture syndrome 10",
            "description": "Lethal congenital contracture syndrome 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061266"
    ],
    "unlinked_id_list": []
}