{
    "disease_id": "DOID:0081321",
    "recommended_name": {
        "id": "DOID:0081321",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081321",
        "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A",
        "description": "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0081321",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081321",
            "name": "Autosomal dominant multiple pterygium syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A",
            "description": ""
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A",
            "description": ""
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "distal arthrogryposis type 8",
            "description": ""
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "multiple pterygium syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "DA8",
            "description": ""
        },
        {
            "id": "MONDO:0008338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008338",
            "name": "arthrogryposis, distal, type 8",
            "description": ""
        },
        {
            "id": "MIM:178110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/178110",
            "name": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A",
            "description": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081321"
    ],
    "unlinked_id_list": []
}