{
    "disease_id": "DOID:0061201",
    "recommended_name": {
        "id": "DOID:0061201",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061201",
        "name": "Bethlem myopathy 2",
        "description": "A Bethlem myopathy characterized by congenital hypotonia, myopathy and delayed motor development with eventual ambulation that has_material_basis_in heterozygous mutation in the COL12A1 gene on chromosome 6q."
    },
    "synonyms": [
        {
            "id": "DOID:0061201",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061201",
            "name": "myopathic-type Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0034022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034022",
            "name": "Bethlem myopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0034022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034022",
            "name": "BTHLM2",
            "description": ""
        },
        {
            "id": "MONDO:0034022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034022",
            "name": "Bethlem myopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0034022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034022",
            "name": "Bethlem myopathy caused by mutation in COL12A1",
            "description": ""
        },
        {
            "id": "MONDO:0034022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034022",
            "name": "Bethlem myopathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0034022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034022",
            "name": "COL12A1 Bethlem myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0034022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034022",
            "name": "EDS, myopathic type",
            "description": ""
        },
        {
            "id": "MONDO:0034022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034022",
            "name": "Ehlers-Danlos syndrome, myopathic type",
            "description": ""
        },
        {
            "id": "MONDO:0034022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034022",
            "name": "myopathic EDS",
            "description": ""
        },
        {
            "id": "MONDO:0034022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0034022",
            "name": "myopathic Ehlers-Danlos syndrome",
            "description": ""
        },
        {
            "id": "MIM:616471",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616471",
            "name": "Bethlem myopathy 2",
            "description": "Bethlem myopathy 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061201"
    ],
    "unlinked_id_list": []
}