{
    "disease_id": "DOID:0110679", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
            "name": "myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
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        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
            "name": "CMS4C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
            "name": "CMS1D"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
            "name": "myasthenia, familial infantile, 1, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
            "name": "congenital myasthenic syndrome associated with acetylcholine receptor deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
            "name": "congenital myasthenic syndrome type 4C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
            "name": "familial infantile myasthenia 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
            "name": "myasthenia, familial infantile, 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
            "name": "FIM1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
            "name": "myasthenic syndrome, congenital, type Id"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
            "name": "congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012157", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012157", 
            "name": "myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; CMS4C"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110679", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110679", 
            "name": "CMS Id"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110679", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110679", 
            "name": "CMS1D"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110679", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110679", 
            "name": "CMS4C"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110679", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110679", 
            "name": "FIM1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110679", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110679", 
            "name": "congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110679", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110679", 
            "name": "congenital myasthenic syndrome type Id"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110679", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110679", 
            "name": "familial infantile myasthenia 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110679", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110679", 
        "name": "congenital myasthenic syndrome 4C"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110679#disease-associations", 
            "id": "0110679", 
            "database": "Alliance of Genome Resources"
        }
    ]
}