{
    "disease_id": "DOID:0110662",
    "recommended_name": {
        "id": "DOID:0110662",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110662",
        "name": "congenital myasthenic syndrome 1B",
        "description": "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q."
    },
    "synonyms": [
        {
            "id": "DOID:0110662",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110662",
            "name": "CMS1B",
            "description": ""
        },
        {
            "id": "DOID:0110662",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110662",
            "name": "congenital myasthenic syndrome 1B, fast-channel",
            "description": ""
        },
        {
            "id": "MONDO:0012156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012156",
            "name": "myasthenic syndrome, congenital, 1B, fast-channel",
            "description": "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q."
        },
        {
            "id": "MONDO:0012156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012156",
            "name": "CMS1B",
            "description": ""
        },
        {
            "id": "MONDO:0012156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012156",
            "name": "congenital myasthenic syndrome type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0012156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012156",
            "name": "myasthenic syndrome, congenital, 1B, fast-channel",
            "description": ""
        },
        {
            "id": "MIM:608930",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608930",
            "name": "Myasthenic syndrome, congenital, 1B, fast-channel",
            "description": "Myasthenic syndrome, congenital, 1B, fast-channel"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110662"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110662",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110662",
            "categories": []
        },
        {
            "id": "MONDO:0012156",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012156",
            "categories": []
        },
        {
            "id": "MIM:608930",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608930",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q98880-1",
            "uniprot_ac": "Q98880",
            "uniprot_id": "ACHA_DANRE",
            "refseq_ac": "NP_571520",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetylcholine receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "AChR alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit alpha precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, alpha polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "nic-1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic receptor",
                    "type": "synonym"
                },
                {
                    "name": "nic",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chrna1",
                    "type": "recommended"
                },
                {
                    "name": "chrna1",
                    "type": "synonym"
                },
                {
                    "name": "nic1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86593",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110662",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110662"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04756-1",
            "uniprot_ac": "P04756",
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            "refseq_ac": "NP_031415",
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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": "Acetylcholine receptor subunit alpha",
                    "type": "recommended"
                },
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                    "name": "acetylcholine receptor subunit alpha precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)",
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                }
            ],
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                    "name": "Chrna1",
                    "type": "recommended"
                },
                {
                    "name": "Achr-1",
                    "type": "synonym"
                },
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                    "name": "Acra",
                    "type": "synonym"
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            ],
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            ]
        },
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            "uniprot_canonical_ac": "P02708-2",
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            "refseq_ac": "NP_000070",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetylcholine receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "acetylcholine receptor subunit alpha isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit alpha",
                    "type": "synonym"
                },
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                },
                {
                    "name": "cholinergic receptor, nicotinic alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, alpha 1 (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "muscle nicotinic acetylcholine receptor",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic cholinergic receptor alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHRNA1",
                    "type": "recommended"
                },
                {
                    "name": "ACHRA",
                    "type": "synonym"
                },
                {
                    "name": "ACHRD",
                    "type": "synonym"
                },
                {
                    "name": "CHNRA",
                    "type": "synonym"
                },
                {
                    "name": "CHRNA1",
                    "type": "synonym"
                },
                {
                    "name": "CHRNA",
                    "type": "synonym"
                },
                {
                    "name": "CMS1A",
                    "type": "synonym"
                },
                {
                    "name": "CMS1B",
                    "type": "synonym"
                },
                {
                    "name": "CMS2A",
                    "type": "synonym"
                },
                {
                    "name": "FCCMS",
                    "type": "synonym"
                },
                {
                    "name": "SCCMS",
                    "type": "synonym"
                }
            ],
            "record_id": "P02708-2",
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                {
                    "id": "608930",
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                    "url": "https://www.omim.org/entry/608930"
                },
                {
                    "id": "0110662",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110662"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25108-1",
            "uniprot_ac": "P25108",
            "uniprot_id": "ACHA_RAT",
            "refseq_ac": "NP_077811",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetylcholine receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "acetylcholine receptor subunit alpha precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor nicotinic alpha polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, alpha 1 (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)",
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                }
            ],
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                {
                    "name": "Chrna1",
                    "type": "recommended"
                },
                {
                    "name": "Acra",
                    "type": "synonym"
                },
                {
                    "name": "Chrna1",
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                }
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                    "id": "0110662",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110662"
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            ]
        },
        {
            "uniprot_canonical_ac": "P04755-1",
            "uniprot_ac": "P04755",
            "uniprot_id": "ACH3_DROME",
            "refseq_ac": "NP_523927",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetylcholine receptor subunit beta-like 1",
                    "type": "recommended"
                },
                {
                    "name": "AChR protein of drosophila",
                    "type": "synonym"
                },
                {
                    "name": "CG11348-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinic acetylcholine receptor beta 1",
                    "type": "synonym"
                },
                {
                    "name": "nAChRbeta1-PA",
                    "type": "synonym"
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                {
                    "name": "nicotinic acetylcholine receptor beta 64B",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor beta1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor beta1",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptorb-64B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nAChRbeta1",
                    "type": "recommended"
                },
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                    "name": "AChR64B",
                    "type": "synonym"
                },
                {
                    "name": "AChR",
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                },
                {
                    "name": "ARD",
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                },
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                    "name": "AchR64B",
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                {
                    "name": "Acr64B",
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                    "name": "AcrD",
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                    "name": "Ard",
                    "type": "synonym"
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                    "name": "CG11348-PA",
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                    "name": "CG11348",
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                {
                    "name": "CG12606",
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                {
                    "name": "Dbeta1",
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                {
                    "name": "Dmel\\CG11348",
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                    "name": "Dmel_CG11348",
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                    "name": "ard",
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                    "name": "beta 64B",
                    "type": "synonym"
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                {
                    "name": "beta1 nAChR",
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                {
                    "name": "nAChR-beta64B",
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                    "name": "nAChRDbeta1",
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                    "name": "nAChR_beta1",
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                    "name": "nAChR",
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                    "name": "nAcR64B",
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                    "name": "nAcRbeta-64B",
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                    "id": "0110662",
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                }
            ]
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            "uniprot_canonical_ac": "Q9W3G6-1",
            "uniprot_ac": "Q9W3G6",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "CG2302-PC",
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                    "name": "Dalpha3",
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                    "name": "Nicotinic acetylcholine receptor alpha3, isoform B",
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                {
                    "name": "Nicotinic acetylcholine receptor alpha3, isoform C",
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                {
                    "name": "drosophila alpha-like subunit 3",
                    "type": "synonym"
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                    "name": "nAcRalpha-7E",
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                    "name": "nicotinic acetylcholine receptor alpha 7E",
                    "type": "synonym"
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                    "name": "nicotinic acetylcholine receptor alpha3, isoform C",
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                {
                    "name": "nAChRalpha3",
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                    "name": "CG2302",
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                    "name": "D[a3]",
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                {
                    "name": "Da3",
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                {
                    "name": "Dalpha3 nAChR",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha3",
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                    "name": "Dmel\\CG2302",
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                {
                    "name": "Dmel_CG2302",
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                {
                    "name": "alpha3",
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                {
                    "name": "lincRNA.965",
                    "type": "synonym"
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                {
                    "name": "nACRalpha-7E",
                    "type": "synonym"
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                {
                    "name": "nAChRalpha3",
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                    "name": "nAChR",
                    "type": "synonym"
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                {
                    "name": "nAcRalpha-7E",
                    "type": "synonym"
                },
                {
                    "name": "nAcRe",
                    "type": "synonym"
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                {
                    "name": "nAchRalpha3",
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                {
                    "name": "nicra3",
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                    "id": "0110662",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110662"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110662"
}