{
    "disease_id": "DOID:0081322",
    "recommended_name": {
        "id": "DOID:0081322",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081322",
        "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B",
        "description": "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0081322",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081322",
            "name": "Autosomal recessive multiple pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020746",
            "name": "contractures, pterygia, and variable skeletal fusions syndrome 1B",
            "description": ""
        },
        {
            "id": "MONDO:0020746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020746",
            "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B",
            "description": ""
        },
        {
            "id": "MIM:618469",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618469",
            "name": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B",
            "description": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081322"
    ],
    "unlinked_id_list": []
}