{
    "disease_id": "DOID:0110669",
    "recommended_name": {
        "id": "DOID:0110669",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110669",
        "name": "congenital myasthenic syndrome 14",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110669",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110669",
            "name": "CMS14",
            "description": ""
        },
        {
            "id": "DOID:0110669",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110669",
            "name": "CMSTA3",
            "description": ""
        },
        {
            "id": "DOID:0110669",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110669",
            "name": "congenital myasthenic syndrome with tubular aggregates 3",
            "description": ""
        },
        {
            "id": "DOID:0110669",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110669",
            "name": "congenital myasthenic syndrome 14, with tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0014543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014543",
            "name": "congenital myasthenic syndrome 14",
            "description": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene."
        },
        {
            "id": "MONDO:0014543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014543",
            "name": "myasthenic syndrome, congenital, type 14",
            "description": ""
        },
        {
            "id": "MONDO:0014543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014543",
            "name": "ALG2 congenital myasthenic syndromes with glycosylation defect",
            "description": ""
        },
        {
            "id": "MONDO:0014543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014543",
            "name": "congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2",
            "description": ""
        },
        {
            "id": "MONDO:0014543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014543",
            "name": "congenital myasthenic syndrome type 14",
            "description": ""
        },
        {
            "id": "MONDO:0014543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014543",
            "name": "myasthenic syndrome, congenital, 14",
            "description": ""
        },
        {
            "id": "MONDO:0014543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014543",
            "name": "CMS14",
            "description": ""
        },
        {
            "id": "MONDO:0014543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014543",
            "name": "congenital myasthenic syndrome 14, with tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0014543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014543",
            "name": "CMSTA3",
            "description": ""
        },
        {
            "id": "MONDO:0014543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014543",
            "name": "myasthenic syndrome, congenital, with tubular aggregates 3",
            "description": ""
        },
        {
            "id": "MONDO:0014543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014543",
            "name": "congenital myasthenic syndrome with tubular aggregates 3",
            "description": ""
        },
        {
            "id": "MONDO:0014543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014543",
            "name": "myasthenic syndrome, congenital, 14; CMS14",
            "description": ""
        },
        {
            "id": "MIM:616228",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616228",
            "name": "Myasthenic syndrome, congenital, 14",
            "description": "Myasthenic syndrome, congenital, 14"
        }
    ]
}