{
    "disease_id": "DOID:0112190",
    "recommended_name": {
        "id": "DOID:0112190",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112190",
        "name": "distal arthrogryposis type 1C",
        "description": "A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112190",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112190",
            "name": "DA1C",
            "description": ""
        },
        {
            "id": "MONDO:0030847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030847",
            "name": "arthrogryposis, distal, type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0030847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030847",
            "name": "DA1C",
            "description": ""
        },
        {
            "id": "MONDO:0030847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030847",
            "name": "arthrogryposis, distal, type 1C",
            "description": ""
        },
        {
            "id": "MIM:619110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619110",
            "name": "Arthrogryposis, distal, 1C",
            "description": "Arthrogryposis, distal, 1C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112190"
    ],
    "unlinked_id_list": []
}