{
    "disease_id": "DOID:0110659",
    "recommended_name": {
        "id": "DOID:0110659",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110659",
        "name": "congenital myasthenic syndrome 7",
        "description": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110659",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110659",
            "name": "CMS7",
            "description": ""
        },
        {
            "id": "DOID:0110659",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110659",
            "name": "congenital myasthenic syndrome 7 presynaptic",
            "description": ""
        },
        {
            "id": "MONDO:0014468",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014468",
            "name": "congenital myasthenic syndrome 7",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene."
        },
        {
            "id": "MONDO:0014468",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014468",
            "name": "CMS7",
            "description": ""
        },
        {
            "id": "MONDO:0014468",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014468",
            "name": "SYT2 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014468",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014468",
            "name": "congenital myasthenic syndrome caused by mutation in SYT2",
            "description": ""
        },
        {
            "id": "MONDO:0014468",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014468",
            "name": "congenital myasthenic syndrome type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014468",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014468",
            "name": "myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014468",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014468",
            "name": "myasthenic syndrome, congenital, 7, presynaptic",
            "description": ""
        },
        {
            "id": "MIM:616040",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616040",
            "name": "Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant",
            "description": "Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110659"
    ],
    "unlinked_id_list": []
}