{
    "disease_id": "DOID:0111595",
    "recommended_name": {
        "id": "DOID:0111595",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111595",
        "name": "congenital contractural arachnodactyly",
        "description": "A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "Beals syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "Beals-Hecht syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "CCA",
            "description": ""
        },
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "arachnodactyly, contractural Beals type",
            "description": ""
        },
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "contractures, multiple with arachnodactyly",
            "description": ""
        },
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "distal arthrogryposis type 9",
            "description": ""
        },
        {
            "id": "DOID:0111595",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111595",
            "name": "ear anomalies-contractures-dysplasia of bone with kyphoscoliosis",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "congenital contractural arachnodactyly",
            "description": "Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia."
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "Beals syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "Beals-Hecht syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "CCA",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "CCA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "distal arthrogryposis type 9",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "DA9",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "arachnodactyly, contractural Beals type",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "arthrogryposis, distal, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0007363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007363",
            "name": "contractures, multiple with arachnodactyly",
            "description": ""
        },
        {
            "id": "MIM:121050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/121050",
            "name": "Contractural arachnodactyly, congenital",
            "description": "Contractural arachnodactyly, congenital"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111595"
    ],
    "unlinked_id_list": []
}