{
    "disease_id": "DOID:0110671",
    "recommended_name": {
        "id": "DOID:0110671",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110671",
        "name": "congenital myasthenic syndrome 6",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110671",
            "name": "CMS Ia2",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110671",
            "name": "CMS1A2",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110671",
            "name": "CMS6",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110671",
            "name": "CMSEA",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110671",
            "name": "FIM",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110671",
            "name": "FIMG2",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110671",
            "name": "congenital presynaptic myasthenic syndrome associated with episodic apnea",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110671",
            "name": "congenital myasthenic syndrome 6, presynaptic",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110671",
            "name": "congenital myasthenic syndrome type Ia2",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110671",
            "name": "familial infantile myasthenia",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110671",
            "name": "familial infantile myasthenia gravis 2",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "congenital myasthenic syndrome 6",
            "description": "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "congenital myasthenic syndrome caused by mutation in CHAT",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "FIM, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "congenital myasthenic syndrome type Ia2, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "myasthenic syndrome, congenital, 6, presynaptic; CMS6",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "CMS1A2",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "CMS1A2, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "familial infantile myasthenia",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
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            "name": "myasthenia, familial infantile, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "congenital myasthenic syndrome type 6",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "myasthenia gravis, familial infantile, 2",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "CMS-ea",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "myasthenic syndrome, presynaptic, congenital, associated with episodic apnea",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "CMS w/episodic apnea",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
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            "name": "myasthenia, familial infantile",
            "description": ""
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        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "FIMG2",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "FIMG2 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "myasthenic syndrome, congenital, 6, presynaptic",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "congenital presynaptic myasthenic syndrome associated with episodic apnea",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "CMSEA",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "myasthenia gravis familial infantile 2 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "presynaptic congenital myasthenic syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "myasthenic syndrome, congenital, associated with episodic apnea",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "Cms Ia2, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "familial infantile myasthenia gravis 2",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "FIMG2, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "CMS Ia2",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "Cms Ia2",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "CMS Ia2, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "congenital myasthenic syndrome 6, presynaptic",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "congenital myasthenic syndrome with episodic apnea",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "CMS1A",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "myasthenia familial infantile",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "CHAT congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "myasthenic syndrome congenital associated with episodic apnea",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "congenital myasthenic syndrome type Ia2",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "CMS6",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "congenital myasthenic syndrome type 1a",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "myasthenia gravis, familial infantile, 2, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "FIM",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "congenital myasthenic syndrome type Ia",
            "description": ""
        },
        {
            "id": "MIM:254210",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/254210",
            "name": "Myasthenic syndrome, congenital, 6, presynaptic",
            "description": "Myasthenic syndrome, congenital, 6, presynaptic"
        }
    ]
}