{
    "disease_id": "DOID:0110660",
    "recommended_name": {
        "id": "DOID:0110660",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110660",
        "name": "congenital myasthenic syndrome 12",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110660",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110660",
            "name": "CMS12",
            "description": ""
        },
        {
            "id": "DOID:0110660",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110660",
            "name": "congenital myasthenia 12 with tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "congenital myasthenic syndrome 12",
            "description": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene."
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "CMS12",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "GFPT1 congenital myasthenic syndromes with glycosylation defect",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "congenital myasthenic syndrome type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "myasthenia, congenital, 12, with tubular aggregates",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "myasthenic syndrome, congenital, type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012518",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012518",
            "name": "myasthenic syndrome, congenital, 12",
            "description": ""
        },
        {
            "id": "MIM:610542",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610542",
            "name": "Myasthenic syndrome, congenital, 12",
            "description": "Myasthenic syndrome, congenital, 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110660"
    ],
    "unlinked_id_list": []
}