{
    "disease_id": "DOID:0110672",
    "recommended_name": {
        "id": "DOID:0110672",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110672",
        "name": "congenital myasthenic syndrome 21",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11."
    },
    "synonyms": [
        {
            "id": "DOID:0110672",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110672",
            "name": "CMS21",
            "description": ""
        },
        {
            "id": "DOID:0110672",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110672",
            "name": "congenital myasthenic syndrome 21, presynaptic",
            "description": ""
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "congenital myasthenic syndrome 21",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene."
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "myasthenic syndrome, congenital, 21, presynaptic; CMS21",
            "description": ""
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "CMS21",
            "description": ""
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "myasthenic syndrome, congenital, 21, presynaptic",
            "description": ""
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "congenital myasthenic syndrome 21, presynaptic",
            "description": ""
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "congenital myasthenic syndrome caused by mutation in SLC18A3",
            "description": ""
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "SLC18A3 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "congenital myasthenic syndrome type 21",
            "description": ""
        },
        {
            "id": "MIM:617239",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617239",
            "name": "Myasthenic syndrome, congenital, 21, presynaptic",
            "description": "Myasthenic syndrome, congenital, 21, presynaptic"
        }
    ]
}