{
    "disease_id": "DOID:0110678", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011600", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011600", 
            "name": "congenital myasthenic syndrome 4A slow-channel"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011600", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011600", 
            "name": "myasthenic syndrome, congenital, 4A, slow-channel"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011600", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011600", 
            "name": "CMS1A1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011600", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011600", 
            "name": "congenital myasthenic syndrome type 4A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011600", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011600", 
            "name": "congenital myasthenic syndrome type Ia1, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011600", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011600", 
            "name": "Cms Ia1, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011600", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011600", 
            "name": "congenital myasthenic syndrometype Ia1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011600", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011600", 
            "name": "congenital myasthenic syndrome type Ia1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011600", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011600", 
            "name": "Cms Ia1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011600", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011600", 
            "name": "myasthenic syndrome, congenital, 4A, slow-channel; CMS4A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011600", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011600", 
            "name": "CMS4A"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110678", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110678", 
            "name": "CMS Ia1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110678", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110678", 
            "name": "CMS1A1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110678", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110678", 
            "name": "CMS4A"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110678", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110678", 
            "name": "congenital myasthenic syndrome 4A slow-channel"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110678", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110678", 
            "name": "congenital myasthenic syndrometype Ia1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110678", 
        "description": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110678", 
        "name": "congenital myasthenic syndrome 4A"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110678#disease-associations", 
            "id": "0110678", 
            "database": "Alliance of Genome Resources"
        }
    ]
}