{
    "disease_id": "DOID:0110671", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "congenital myasthenic syndrome caused by mutation in CHAT"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "FIM, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "congenital myasthenic syndrome type Ia2, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "myasthenic syndrome, congenital, 6, presynaptic; CMS6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "CMS1A2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "CMS1A2, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "familial infantile myasthenia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "myasthenia, familial infantile, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "congenital myasthenic syndrome type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "myasthenia gravis, familial infantile, 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "CMS-ea"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "myasthenic syndrome, presynaptic, congenital, associated with episodic apnea"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "CMS w/episodic apnea"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "myasthenia, familial infantile"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "FIMG2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "FIMG2 (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "myasthenic syndrome, congenital, 6, presynaptic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "congenital presynaptic myasthenic syndrome associated with episodic apnea"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "CMSEA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "myasthenia gravis familial infantile 2 (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "presynaptic congenital myasthenic syndrome 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "myasthenic syndrome, congenital, associated with episodic apnea"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "Cms Ia2, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "familial infantile myasthenia gravis 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "FIMG2, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "CMS Ia2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "congenital myasthenic syndrome 6, presynaptic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "congenital myasthenic syndrome with episodic apnea"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "CMS1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "myasthenia familial infantile"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "CHAT congenital myasthenic syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "myasthenic syndrome congenital associated with episodic apnea"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "congenital myasthenic syndrome type Ia2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "CMS6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "congenital myasthenic syndrome type 1a"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "myasthenia gravis, familial infantile, 2, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "FIM"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009689", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009689", 
            "name": "congenital myasthenic syndrome type Ia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110671", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110671", 
            "name": "CMS Ia2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110671", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110671", 
            "name": "CMS1A2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110671", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110671", 
            "name": "CMS6"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110671", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110671", 
            "name": "CMSEA"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110671", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110671", 
            "name": "FIM"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110671", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110671", 
            "name": "FIMG2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110671", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110671", 
            "name": "congenital presynaptic myasthenic syndrome associated with episodic apnea"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110671", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110671", 
            "name": "congenital myasthenic syndrome 6, presynaptic"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110671", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110671", 
            "name": "congenital myasthenic syndrome type Ia2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110671", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110671", 
            "name": "familial infantile myasthenia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110671", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110671", 
            "name": "familial infantile myasthenia gravis 2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110671", 
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110671", 
        "name": "congenital myasthenic syndrome 6"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110671#disease-associations", 
            "id": "0110671", 
            "database": "Alliance of Genome Resources"
        }
    ]
}