{
    "disease_id": "DOID:0111605",
    "recommended_name": {
        "id": "DOID:0111605",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111605",
        "name": "distal arthrogryposis type 2A",
        "description": "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111605",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111605",
            "name": "DA2A",
            "description": ""
        },
        {
            "id": "DOID:0111605",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111605",
            "name": "distal arthrogryposis type 2A (Freeman-Sheldon)",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "Freeman-Sheldon syndrome",
            "description": "A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis."
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "Craniocarpotarsal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "Craniocarpotarsal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "Freeman Sheldon Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "Freeman Sheldon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "Freeman-Sheldon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "arthrogryposis, distal, type 2A (Freeman-Sheldon)",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "cranio-carpo-tarsal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "craniocarpotarsal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "craniocarpotarsal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "distal arthrogryposis type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "whistling face syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "whistling face-windmill vane hand syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "whistling-face syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "windmill-vane-hand syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "DA2A",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "FSS",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "arthrogryposis distal type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0008675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008675",
            "name": "arthrogryposis, distal, type 2A",
            "description": ""
        },
        {
            "id": "MIM:193700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/193700",
            "name": "Arthrogryposis, distal, 2A",
            "description": "Arthrogryposis, distal, 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111605"
    ],
    "unlinked_id_list": []
}