{
    "disease_id": "DOID:0110671",
    "recommended_name": {
        "id": "DOID:0110671",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0110671",
            "name": "CMS Ia2",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110671",
            "name": "CMS1A2",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110671",
            "name": "CMS6",
            "description": ""
        },
        {
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110671",
            "name": "CMSEA",
            "description": ""
        },
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110671",
            "name": "FIM",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110671",
            "name": "FIMG2",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110671",
            "name": "congenital presynaptic myasthenic syndrome associated with episodic apnea",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110671",
            "name": "congenital myasthenic syndrome 6, presynaptic",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110671",
            "name": "congenital myasthenic syndrome type Ia2",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110671",
            "name": "familial infantile myasthenia",
            "description": ""
        },
        {
            "id": "DOID:0110671",
            "resource": "Disease Ontology",
            "url": "https://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": "CHAT congenital myasthenic syndrome",
            "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": "CMSEA",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "FIM",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
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            "name": "congenital myasthenic syndrome 6",
            "description": ""
        },
        {
            "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",
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            "name": "congenital myasthenic syndrome type 6",
            "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": "CMS Ia2, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "CMS w/episodic apnea",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "CMS-ea",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
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            "name": "CMS1A",
            "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": "Cms Ia2",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
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            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009689",
            "name": "FIMG2 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
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            "name": "FIMG2, formerly",
            "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",
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        {
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        },
        {
            "id": "MONDO:0009689",
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            "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": "myasthenia gravis familial infantile 2 (formerly)",
            "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": "myasthenia gravis, familial infantile, 2, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009689",
            "resource": "MONDO",
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            "description": ""
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        {
            "id": "MONDO:0009689",
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        },
        {
            "id": "MONDO:0009689",
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            "description": ""
        },
        {
            "id": "MONDO:0009689",
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            "description": ""
        },
        {
            "id": "MONDO:0009689",
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        {
            "id": "MONDO:0009689",
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            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110671"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110671",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110671",
            "categories": []
        },
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            "id": "MONDO:0009689",
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        }
    ],
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        {
            "uniprot_canonical_ac": "B2ZGJ1-1",
            "uniprot_ac": "B2ZGJ1",
            "uniprot_id": "CLAT_DANRE",
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                {
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Choline O-acetyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.6",
                    "type": "synonym"
                },
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                    "type": "synonym"
                },
                {
                    "name": "ChAT",
                    "type": "synonym"
                },
                {
                    "name": "Choline acetylase",
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                {
                    "name": "baj",
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                {
                    "name": "choline acetylase",
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                {
                    "name": "choline acetyltransferase",
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                {
                    "name": "unm tk64",
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            ],
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                {
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                },
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                    "name": "chat",
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                {
                    "name": "Mus musculus",
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            ],
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                    "name": "Homo sapiens",
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                    "name": "Choline O-acetyltransferase",
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                    "id": "0110671",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
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                    "name": "Carnitine O-acetyltransferase, mitochondrial",
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                    "name": "Carnitine acetylase",
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                    "name": "YM8054.01",
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        {
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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            "uniprot_canonical_ac": "P07668-1",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Choline O-acetyltransferase",
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                {
                    "name": "Choline-acetyltransferase",
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                {
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                    "name": "choline acetyl transferase",
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                    "name": "choline acetyltransferase, isoform A",
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                },
                {
                    "name": "choline acetyltransferase",
                    "type": "synonym"
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                {
                    "name": "choline-O-acetyltransferase",
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                {
                    "name": "ChAT4B1",
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                    "name": "ChAT",
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                {
                    "name": "ChAt",
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                    "name": "ChaT",
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                {
                    "name": "Cha",
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                    "name": "Dmel\\CG12345",
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                    "name": "chat",
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                },
                {
                    "name": "cha",
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                {
                    "name": "dChAT",
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                },
                {
                    "name": "l(3)91Cc",
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                }
            ],
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                    "id": "0110671",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110671"
}