{
    "disease_id": "DOID:0110680",
    "recommended_name": {
        "id": "DOID:0110680",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110680",
        "name": "congenital myasthenic syndrome 2C",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110680",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110680",
            "name": "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110680",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110680",
            "name": "CMS2C",
            "description": ""
        },
        {
            "id": "MONDO:0014582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014582",
            "name": "congenital myasthenic syndrome 2C",
            "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13."
        },
        {
            "id": "MONDO:0014582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014582",
            "name": "CMS2C",
            "description": ""
        },
        {
            "id": "MONDO:0014582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014582",
            "name": "congenital myasthenic syndrome type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0014582",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014582",
            "name": "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency",
            "description": ""
        },
        {
            "id": "MIM:616314",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616314",
            "name": "Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency",
            "description": "Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110680"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110680",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110680",
            "categories": []
        },
        {
            "id": "MONDO:0014582",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014582",
            "categories": []
        },
        {
            "id": "MIM:616314",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616314",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TW53-1",
            "uniprot_ac": "A0AB32TW53",
            "uniprot_id": "A0AB32TW53_DANRE",
            "refseq_ac": "XP_068078213",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetylcholine receptor subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "cholinergic receptor, nicotinic, beta 1 (muscle) like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chrnb1l",
                    "type": "recommended"
                },
                {
                    "name": "chrnb1.2",
                    "type": "synonym"
                },
                {
                    "name": "chrnb1l",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TW53-1",
            "evidence": [
                {
                    "id": "0110680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09690-1",
            "uniprot_ac": "P09690",
            "uniprot_id": "ACHB_MOUSE",
            "refseq_ac": "NP_033731",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetylcholine receptor subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "AChR beta",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit beta isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chrnb1",
                    "type": "recommended"
                },
                {
                    "name": "Achr-2",
                    "type": "synonym"
                },
                {
                    "name": "Acrb",
                    "type": "synonym"
                },
                {
                    "name": "Chrnb1",
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                }
            ],
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                {
                    "id": "0110680",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11230-1",
            "uniprot_ac": "P11230",
            "uniprot_id": "ACHB_HUMAN",
            "refseq_ac": "NP_000738",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetylcholine receptor subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "acetylcholine receptor subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor, nicotinic, beta 1 (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic beta 1",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, beta 1 (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHRNB1",
                    "type": "recommended"
                },
                {
                    "name": "ACHRB",
                    "type": "synonym"
                },
                {
                    "name": "CHRNB1",
                    "type": "synonym"
                },
                {
                    "name": "CHRNB",
                    "type": "synonym"
                },
                {
                    "name": "CMS1D",
                    "type": "synonym"
                },
                {
                    "name": "CMS2A",
                    "type": "synonym"
                },
                {
                    "name": "CMS2C",
                    "type": "synonym"
                },
                {
                    "name": "SCCMS",
                    "type": "synonym"
                }
            ],
            "record_id": "P11230-1",
            "evidence": [
                {
                    "id": "616314",
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                    "url": "https://www.omim.org/entry/616314"
                },
                {
                    "id": "0110680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25109-1",
            "uniprot_ac": "P25109",
            "uniprot_id": "ACHB_RAT",
            "refseq_ac": "NP_036660",
            "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 beta",
                    "type": "recommended"
                },
                {
                    "name": "Acetylcholine receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit beta isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor nicotinic beta polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic beta 1",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, beta 1 (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "n acetylcholine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chrnb1",
                    "type": "recommended"
                },
                {
                    "name": "Acrb",
                    "type": "synonym"
                },
                {
                    "name": "Chrnb1",
                    "type": "synonym"
                },
                {
                    "name": "RNACRB1",
                    "type": "synonym"
                },
                {
                    "name": "nAChR",
                    "type": "synonym"
                }
            ],
            "record_id": "P25109-1",
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                {
                    "id": "0110680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09478-1",
            "uniprot_ac": "P09478",
            "uniprot_id": "ACH1_DROME",
            "refseq_ac": "NP_001262917",
            "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 alpha-like 1",
                    "type": "recommended"
                },
                {
                    "name": "ALS",
                    "type": "synonym"
                },
                {
                    "name": "CG5610-PC",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha1",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinic acetylcholine receptor alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-like subunit",
                    "type": "synonym"
                },
                {
                    "name": "alpha-like-subunit",
                    "type": "synonym"
                },
                {
                    "name": "nAChRalpha1-PC",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor alpha 96Aa",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor alpha-96Aa",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor alpha-like",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor alpha1, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nAChRalpha1",
                    "type": "recommended"
                },
                {
                    "name": "AChRalpha1",
                    "type": "synonym"
                },
                {
                    "name": "AChR",
                    "type": "synonym"
                },
                {
                    "name": "AChr",
                    "type": "synonym"
                },
                {
                    "name": "ALS",
                    "type": "synonym"
                },
                {
                    "name": "ALs",
                    "type": "synonym"
                },
                {
                    "name": "Acr96Aa",
                    "type": "synonym"
                },
                {
                    "name": "Acr96A",
                    "type": "synonym"
                },
                {
                    "name": "AcrB",
                    "type": "synonym"
                },
                {
                    "name": "CG5610-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG5610",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha1 nAChR",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5610",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5610",
                    "type": "synonym"
                },
                {
                    "name": "EMS1",
                    "type": "synonym"
                },
                {
                    "name": "NAcRa96Aa",
                    "type": "synonym"
                },
                {
                    "name": "alpha-like",
                    "type": "synonym"
                },
                {
                    "name": "alpha1",
                    "type": "synonym"
                },
                {
                    "name": "als",
                    "type": "synonym"
                },
                {
                    "name": "dALS",
                    "type": "synonym"
                },
                {
                    "name": "nAChR-alpha96Aa",
                    "type": "synonym"
                },
                {
                    "name": "nAChRDalpha1",
                    "type": "synonym"
                },
                {
                    "name": "nAChRa1",
                    "type": "synonym"
                },
                {
                    "name": "nAChRalpha-96Aa",
                    "type": "synonym"
                },
                {
                    "name": "nAChRalpha1",
                    "type": "synonym"
                },
                {
                    "name": "nAChR",
                    "type": "synonym"
                },
                {
                    "name": "nAcRalpha-96Aa",
                    "type": "synonym"
                },
                {
                    "name": "nAcRs",
                    "type": "synonym"
                },
                {
                    "name": "nAcr96Aa",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110680",
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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"
                },
                {
                    "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"
                },
                {
                    "name": "AChR64B",
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                },
                {
                    "name": "AChR",
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                },
                {
                    "name": "ARD",
                    "type": "synonym"
                },
                {
                    "name": "AchR64B",
                    "type": "synonym"
                },
                {
                    "name": "Acr64B",
                    "type": "synonym"
                },
                {
                    "name": "AcrD",
                    "type": "synonym"
                },
                {
                    "name": "Ard",
                    "type": "synonym"
                },
                {
                    "name": "CG11348-PA",
                    "type": "synonym"
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                {
                    "name": "CG11348",
                    "type": "synonym"
                },
                {
                    "name": "CG12606",
                    "type": "synonym"
                },
                {
                    "name": "Dbeta1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11348",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11348",
                    "type": "synonym"
                },
                {
                    "name": "ard",
                    "type": "synonym"
                },
                {
                    "name": "beta 64B",
                    "type": "synonym"
                },
                {
                    "name": "beta1 nAChR",
                    "type": "synonym"
                },
                {
                    "name": "nAChR-beta64B",
                    "type": "synonym"
                },
                {
                    "name": "nAChRDbeta1",
                    "type": "synonym"
                },
                {
                    "name": "nAChR_beta1",
                    "type": "synonym"
                },
                {
                    "name": "nAChRbeta1",
                    "type": "synonym"
                },
                {
                    "name": "nAChR",
                    "type": "synonym"
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                {
                    "name": "nAcR-beta-64B",
                    "type": "synonym"
                },
                {
                    "name": "nAcR64B",
                    "type": "synonym"
                },
                {
                    "name": "nAcRbeta-64B",
                    "type": "synonym"
                }
            ],
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                    "id": "0110680",
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                }
            ]
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        {
            "uniprot_canonical_ac": "Q99941-1",
            "uniprot_ac": "Q99941",
            "uniprot_id": "ATF6B_HUMAN",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic AMP-dependent transcription factor ATF-6 beta",
                    "type": "recommended"
                },
                {
                    "name": "ATF6-beta",
                    "type": "synonym"
                },
                {
                    "name": "Activating transcription factor 6 beta",
                    "type": "synonym"
                },
                {
                    "name": "Creb-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Creb-rp",
                    "type": "synonym"
                },
                {
                    "name": "Protein G13",
                    "type": "synonym"
                },
                {
                    "name": "cAMP response element-binding protein-related protein",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent transcription factor ATF-6 beta",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-responsive element-binding protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic AMP-dependent transcription factor ATF-6 beta isoform b",
                    "type": "synonym"
                },
                {
                    "name": "cyclic AMP-dependent transcription factor ATF-6 beta",
                    "type": "synonym"
                },
                {
                    "name": "protein G13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATF6B",
                    "type": "recommended"
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                {
                    "name": "ATF6B",
                    "type": "synonym"
                },
                {
                    "name": "ATF6beta",
                    "type": "synonym"
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                {
                    "name": "CREB-RP",
                    "type": "synonym"
                },
                {
                    "name": "CREBL1",
                    "type": "synonym"
                },
                {
                    "name": "G13",
                    "type": "synonym"
                }
            ],
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                    "id": "0110680",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110680"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110680"
}