{
    "disease_id": "DOID:0081344",
    "recommended_name": {
        "id": "DOID:0081344",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081344",
        "name": "congenital myopathy 9B",
        "description": "A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A."
    },
    "synonyms": [
        {
            "id": "DOID:0081344",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081344",
            "name": "ongenital proximal myopathy 9B with minicore lesions",
            "description": ""
        },
        {
            "id": "MONDO:0032937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032937",
            "name": "myopathy, congenital proximal, with minicore lesions",
            "description": ""
        },
        {
            "id": "MONDO:0032937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032937",
            "name": "MYOPMIL",
            "description": ""
        },
        {
            "id": "MIM:618823",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618823",
            "name": "Congenital myopathy 9B, proximal, with minicore lesions",
            "description": "Congenital myopathy 9B, proximal, with minicore lesions"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081344"
    ],
    "unlinked_id_list": []
}