{
    "disease_id": "DOID:0110667",
    "recommended_name": {
        "id": "DOID:0110667",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110667",
        "name": "congenital myasthenic syndrome 5",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110667",
            "name": "CMS Ic",
            "description": ""
        },
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110667",
            "name": "CMS5",
            "description": ""
        },
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110667",
            "name": "EAD",
            "description": ""
        },
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110667",
            "name": "Engel congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110667",
            "name": "congenital myasthenic syndrome Engel type",
            "description": ""
        },
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110667",
            "name": "congenital myasthenic syndrome type Ic",
            "description": ""
        },
        {
            "id": "DOID:0110667",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110667",
            "name": "end plate acetylcholinesterase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "congenital myasthenic syndrome 5",
            "description": "Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "EAD",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "endplate acetylcholinesterase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "congenital myasthenic syndrome Engel type",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "myasthenic syndrome, congenital, 5",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "CMS5",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "congenital myasthenic syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "Cms Ic, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "CMS Ic",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "congenital myasthenic syndrome type Ic, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "congenital myasthenic syndrome type Ic",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "end plate acetylcholinesterase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "Cms Ic",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "myasthenic syndrome, congenital, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "COLQ congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "myasthenic syndrome, congenital, 5; CMS5",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "myasthenic syndrome, congenital, Engel type",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "Engel congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011281",
            "name": "congenital myasthenic syndrome caused by mutation in COLQ",
            "description": ""
        },
        {
            "id": "MIM:603034",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603034",
            "name": "Myasthenic syndrome, congenital, 5",
            "description": "Myasthenic syndrome, congenital, 5"
        }
    ]
}