{
    "disease_id": "DOID:0110672",
    "recommended_name": {
        "id": "DOID:0110672",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110672",
        "name": "congenital myasthenic syndrome 21",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11."
    },
    "synonyms": [
        {
            "id": "DOID:0110672",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110672",
            "name": "CMS21",
            "description": ""
        },
        {
            "id": "DOID:0110672",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110672",
            "name": "congenital myasthenic syndrome 21, presynaptic",
            "description": ""
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "congenital myasthenic syndrome 21",
            "description": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene."
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "CMS21",
            "description": ""
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "SLC18A3 congenital myasthenic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "congenital myasthenic syndrome caused by mutation in SLC18A3",
            "description": ""
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "congenital myasthenic syndrome type 21",
            "description": ""
        },
        {
            "id": "MONDO:0014983",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "name": "myasthenic syndrome, congenital, 21, presynaptic",
            "description": ""
        },
        {
            "id": "MIM:617239",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617239",
            "name": "Myasthenic syndrome, congenital, 21, presynaptic",
            "description": "Myasthenic syndrome, congenital, 21, presynaptic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110672"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110672",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110672",
            "categories": []
        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0014983",
            "categories": []
        },
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            "url": "https://www.omim.org/entry/617239",
            "categories": []
        }
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            "uniprot_ac": "Q08C75",
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                }
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        },
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            "uniprot_canonical_ac": "O35304-1",
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            "refseq_ac": "",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Vesicular acetylcholine transporter",
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            "gene_names": [
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                }
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        },
        {
            "uniprot_canonical_ac": "Q16572-1",
            "uniprot_ac": "Q16572",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                }
            ],
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                {
                    "name": "Vesicular acetylcholine transporter",
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                    "name": "SLC18A3",
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                    "name": "CMS21",
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                    "id": "0110672",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Vesicular acetylcholine transporter",
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                    "name": "Drosophila melanogaster",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110672"
}