{
    "disease_id": "DOID:0110668", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "familial limb-girdle myasthenia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "congenital myasthenic syndrome type 10"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "myasthenic syndrome, congenital, type 10"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "myasthenia, limb-girdle, familial, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "CMS1B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "myasthenia, limb-girdle, familial"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "Cms Ib, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "myasthenic syndrome, congenital, 10"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "DOK7 congenital myasthenic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "congenital myasthenic syndrome type IB"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "CMS10"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "congenital myasthenic syndrome type IB, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "Cms Ib"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "myasthenic myopathy, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "LGM"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "myasthenic syndrome, congenital, 10; CMS10"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "congenital myasthenic syndrome caused by mutation in DOK7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009690", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009690", 
            "name": "myasthenic myopathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110668", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110668", 
            "name": "CMS10"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110668", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110668", 
            "name": "LGM"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110668", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110668", 
            "name": "familial limb-girdle myasthenia"
        }, 
        {
            "url": "https://www.omim.org/entry/254300", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:254300", 
            "name": "Myasthenic syndrome, congenital, 10"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110668", 
        "description": "A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life  that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110668", 
        "name": "congenital myasthenic syndrome 10"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/254300", 
            "id": "254300", 
            "database": "MIM"
        }
    ]
}