{
    "disease_id": "DOID:0110679",
    "recommended_name": {
        "id": "DOID:0110679",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110679",
        "name": "congenital myasthenic syndrome 4C",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."
    },
    "synonyms": [
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            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110679",
            "name": "CMS Id",
            "description": ""
        },
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            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110679",
            "name": "CMS1D",
            "description": ""
        },
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            "name": "CMS4C",
            "description": ""
        },
        {
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            "name": "FIM1",
            "description": ""
        },
        {
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            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110679",
            "name": "congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
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            "url": "http://disease-ontology.org/term/DOID:0110679",
            "name": "congenital myasthenic syndrome type Id",
            "description": ""
        },
        {
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            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110679",
            "name": "familial infantile myasthenia 1",
            "description": ""
        },
        {
            "id": "MONDO:0012157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012157",
            "name": "congenital myasthenic syndrome 4C",
            "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."
        },
        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0012157",
            "name": "CMS Id",
            "description": ""
        },
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            "resource": "MONDO",
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            "name": "CMS1D",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012157",
            "name": "CMS4C",
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        },
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            "name": "FIM1",
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        },
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            "name": "congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
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            "name": "congenital myasthenic syndrome type 4C",
            "description": ""
        },
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012157",
            "name": "congenital myasthenic syndrome type Id",
            "description": ""
        },
        {
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            "resource": "MONDO",
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            "name": "familial infantile myasthenia 1",
            "description": ""
        },
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            "name": "Cms Id",
            "description": ""
        },
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            "name": "Cms Id, formerly",
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            "description": ""
        },
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            "description": ""
        },
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            "id": "MONDO:0012157",
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            "name": "myasthenia, familial infantile, 1, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0012157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012157",
            "name": "myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012157",
            "name": "myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012157",
            "name": "myasthenic syndrome, congenital, type Id",
            "description": ""
        },
        {
            "id": "MIM:608931",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608931",
            "name": "Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency",
            "description": "Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency"
        }
    ]
}