{
    "disease_id": "DOID:0110678",
    "recommended_name": {
        "id": "DOID:0110678",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110678",
        "name": "congenital myasthenic syndrome 4A",
        "description": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110678",
            "name": "CMS Ia1",
            "description": ""
        },
        {
            "id": "DOID:0110678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110678",
            "name": "CMS1A1",
            "description": ""
        },
        {
            "id": "DOID:0110678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110678",
            "name": "CMS4A",
            "description": ""
        },
        {
            "id": "DOID:0110678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110678",
            "name": "congenital myasthenic syndrome 4A slow-channel",
            "description": ""
        },
        {
            "id": "DOID:0110678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110678",
            "name": "congenital myasthenic syndrometype Ia1",
            "description": ""
        },
        {
            "id": "MONDO:0011600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "name": "congenital myasthenic syndrome 4A",
            "description": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13."
        },
        {
            "id": "MONDO:0011600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "name": "CMS4A",
            "description": ""
        },
        {
            "id": "MONDO:0011600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "name": "congenital myasthenic syndrome type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0011600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "name": "Cms Ia1",
            "description": ""
        },
        {
            "id": "MONDO:0011600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "name": "congenital myasthenic syndrome type Ia1",
            "description": ""
        },
        {
            "id": "MONDO:0011600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "name": "myasthenic syndrome, congenital, 4A, slow-channel",
            "description": ""
        },
        {
            "id": "MIM:605809",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605809",
            "name": "Myasthenic syndrome, congenital, 4A, slow-channel",
            "description": "Myasthenic syndrome, congenital, 4A, slow-channel"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110678"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110678",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110678",
            "categories": []
        },
        {
            "id": "MONDO:0011600",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011600",
            "categories": []
        },
        {
            "id": "MIM:605809",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605809",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2BG85-1",
            "uniprot_ac": "A2BG85",
            "uniprot_id": "A2BG85_DANRE",
            "refseq_ac": "NP_001314812",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AChR epsilon",
                    "type": "synonym"
                },
                {
                    "name": "Acetylcholine receptor subunit epsilon precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit epsilon precursor",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor subunit epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chrne",
                    "type": "recommended"
                },
                {
                    "name": "chrne",
                    "type": "synonym"
                },
                {
                    "name": "im:7154697",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101010",
                    "type": "synonym"
                }
            ],
            "record_id": "A2BG85-1",
            "evidence": [
                {
                    "id": "0110678",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110678"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20782-1",
            "uniprot_ac": "P20782",
            "uniprot_id": "ACHE_MOUSE",
            "refseq_ac": "NP_033733",
            "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 epsilon",
                    "type": "recommended"
                },
                {
                    "name": "AchR epsilon subunit",
                    "type": "synonym"
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                {
                    "name": "acetylcholine receptor subunit epsilon precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor epsilon subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chrne",
                    "type": "recommended"
                },
                {
                    "name": "AChrepsilon",
                    "type": "synonym"
                },
                {
                    "name": "Acre",
                    "type": "synonym"
                },
                {
                    "name": "Chrne",
                    "type": "synonym"
                },
                {
                    "name": "nAChRE",
                    "type": "synonym"
                }
            ],
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                    "id": "0110678",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04844-1",
            "uniprot_ac": "Q04844",
            "uniprot_id": "ACHE_HUMAN",
            "refseq_ac": "NP_000071",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Acetylcholine receptor subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "AchR epsilon subunit",
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                },
                {
                    "name": "acetylcholine receptor subunit epsilon precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor, nicotinic, epsilon (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic epsilon",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, epsilon (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, epsilon polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "myasthenia gravis, familial infantile, 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHRNE",
                    "type": "recommended"
                },
                {
                    "name": "ACHRE",
                    "type": "synonym"
                },
                {
                    "name": "CHRNE",
                    "type": "synonym"
                },
                {
                    "name": "CMS1A1",
                    "type": "synonym"
                },
                {
                    "name": "CMS1D",
                    "type": "synonym"
                },
                {
                    "name": "CMS1E",
                    "type": "synonym"
                },
                {
                    "name": "CMS2A",
                    "type": "synonym"
                },
                {
                    "name": "CMS4A",
                    "type": "synonym"
                },
                {
                    "name": "CMS4B",
                    "type": "synonym"
                },
                {
                    "name": "CMS4C",
                    "type": "synonym"
                },
                {
                    "name": "FCCMS",
                    "type": "synonym"
                },
                {
                    "name": "FIM1",
                    "type": "synonym"
                },
                {
                    "name": "FIMG1",
                    "type": "synonym"
                },
                {
                    "name": "FIMG",
                    "type": "synonym"
                },
                {
                    "name": "MGI",
                    "type": "synonym"
                },
                {
                    "name": "SCCMS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04844-1",
            "evidence": [
                {
                    "id": "605809",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605809"
                },
                {
                    "id": "0110678",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110678"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09660-1",
            "uniprot_ac": "P09660",
            "uniprot_id": "ACHE_RAT",
            "refseq_ac": "NP_058890",
            "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 epsilon",
                    "type": "recommended"
                },
                {
                    "name": "acetylcholine receptor epsilon",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit epsilon precursor",
                    "type": "synonym"
                },
                {
                    "name": "acetylcholine receptor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic epsilon",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, epsilon (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, epsilon polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "epsilon-subunit",
                    "type": "synonym"
                },
                {
                    "name": "gene for acetylcholine receptor epsilon subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chrne",
                    "type": "recommended"
                },
                {
                    "name": "Achre",
                    "type": "synonym"
                },
                {
                    "name": "Chrne",
                    "type": "synonym"
                },
                {
                    "name": "nAChR",
                    "type": "synonym"
                }
            ],
            "record_id": "P09660-1",
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                {
                    "id": "0110678",
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            ]
        },
        {
            "uniprot_canonical_ac": "P04755-1",
            "uniprot_ac": "P04755",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Acetylcholine receptor subunit beta-like 1",
                    "type": "recommended"
                },
                {
                    "name": "AChR protein of drosophila",
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                },
                {
                    "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",
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                {
                    "name": "Acr64B",
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                {
                    "name": "AcrD",
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                    "name": "Ard",
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                    "name": "CG11348",
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                {
                    "name": "CG12606",
                    "type": "synonym"
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                {
                    "name": "Dbeta1",
                    "type": "synonym"
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                {
                    "name": "Dmel\\CG11348",
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                },
                {
                    "name": "Dmel_CG11348",
                    "type": "synonym"
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                {
                    "name": "ard",
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                    "name": "beta 64B",
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                    "name": "beta1 nAChR",
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                {
                    "name": "nAChR-beta64B",
                    "type": "synonym"
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                {
                    "name": "nAChRDbeta1",
                    "type": "synonym"
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                {
                    "name": "nAChR_beta1",
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                {
                    "name": "nAChRbeta1",
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                {
                    "name": "nAChR",
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                {
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                {
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                    "name": "nAcRbeta-64B",
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                    "id": "0110678",
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            "uniprot_canonical_ac": "Q9W3G6-1",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG2302-PC",
                    "type": "synonym"
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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": "nicotinic acetylcholine receptor alpha 7E",
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                    "name": "nicotinic acetylcholine receptor alpha3, isoform C",
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                    "name": "Acr7E",
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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",
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                    "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",
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                    "name": "nACRalpha-7E",
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                {
                    "name": "nAChRalpha3",
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                    "name": "nAChR",
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                    "name": "nAcRalpha-7E",
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                    "name": "nAcRe",
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                    "name": "nAchRalpha3",
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                    "name": "nicra3",
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                    "id": "0110678",
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                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Acetylcholine receptor subunit beta-like 2",
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                    "name": "CG6798-PA",
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                    "name": "Dbeta2",
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                {
                    "name": "Nicotinic acetylcholine receptor beta 2",
                    "type": "synonym"
                },
                {
                    "name": "SBD",
                    "type": "synonym"
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                {
                    "name": "nAChRbeta2-PA",
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                {
                    "name": "nicotinic acetylcholine receptor beta 96A",
                    "type": "synonym"
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                {
                    "name": "nicotinic acetylcholine receptor beta2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor beta2",
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                {
                    "name": "second beta-like subunit of drosophila",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "nAChRbeta2",
                    "type": "recommended"
                },
                {
                    "name": "Acr96Ac",
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                },
                {
                    "name": "AcrF",
                    "type": "synonym"
                },
                {
                    "name": "CG6798",
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                {
                    "name": "Dbeta2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6798",
                    "type": "synonym"
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                    "name": "EMS2",
                    "type": "synonym"
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                {
                    "name": "SBD",
                    "type": "synonym"
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                {
                    "name": "beta2",
                    "type": "synonym"
                },
                {
                    "name": "beta[[2]]",
                    "type": "synonym"
                },
                {
                    "name": "nACR beta 96A",
                    "type": "synonym"
                },
                {
                    "name": "nACRbeta",
                    "type": "synonym"
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                {
                    "name": "nAChR-beta96A",
                    "type": "synonym"
                },
                {
                    "name": "nAChRbeta2",
                    "type": "synonym"
                },
                {
                    "name": "nAChR",
                    "type": "synonym"
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                {
                    "name": "nAcRbeta-96A",
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                {
                    "name": "nAcRbeta-96",
                    "type": "synonym"
                },
                {
                    "name": "nAcRbeta",
                    "type": "synonym"
                },
                {
                    "name": "nAcRs",
                    "type": "synonym"
                },
                {
                    "name": "nAcr96Ac",
                    "type": "synonym"
                },
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                    "name": "sbd",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110678",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110678"
                }
            ]
        },
        {
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                    "name": "ALS",
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                    "name": "CG5610-PC",
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                    "name": "Dalpha1",
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                {
                    "name": "Nicotinic acetylcholine receptor alpha 1",
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                {
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                    "name": "nAChRalpha1-PC",
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                },
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                    "name": "nicotinic acetylcholine receptor alpha 96Aa",
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                {
                    "name": "nicotinic acetylcholine receptor alpha-96Aa",
                    "type": "synonym"
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                {
                    "name": "nicotinic acetylcholine receptor alpha-like",
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                {
                    "name": "nicotinic acetylcholine receptor alpha1, isoform C",
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                }
            ],
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                {
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                    "name": "AChr",
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                {
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                    "name": "ALs",
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                    "name": "Acr96Aa",
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                },
                {
                    "name": "Acr96A",
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                    "name": "AcrB",
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                },
                {
                    "name": "CG5610-PA",
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                {
                    "name": "CG5610",
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                {
                    "name": "Dalpha1 nAChR",
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                {
                    "name": "Dalpha1",
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                },
                {
                    "name": "Dmel\\CG5610",
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                {
                    "name": "Dmel_CG5610",
                    "type": "synonym"
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                    "name": "EMS1",
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                {
                    "name": "NAcRa96Aa",
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                    "name": "alpha-like",
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                    "name": "nAcRalpha-96Aa",
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                    "name": "nAcRs",
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            ],
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                }
            ]
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            ],
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                    "name": "Nicotinic acetylcholine receptor alpha4, isoform H",
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                },
                {
                    "name": "nAChRalpha4-PH",
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                {
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                {
                    "name": "nicotinic acetylcholine receptor alpha 80B",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor alpha4, isoform H",
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                },
                {
                    "name": "nicotinic acetylcholine receptor alpha4",
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                },
                {
                    "name": "red-eye",
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                },
                {
                    "name": "redeye",
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                }
            ],
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                    "name": "nAChRalpha4",
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                },
                {
                    "name": "CG12414",
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                },
                {
                    "name": "CG17552",
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                },
                {
                    "name": "Dalpha4",
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                },
                {
                    "name": "Dmel\\CG12414",
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                {
                    "name": "Dmel_CG12414",
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                {
                    "name": "alpha4",
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                },
                {
                    "name": "anon-WO0138359.1",
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                },
                {
                    "name": "nAChR-alpha80B",
                    "type": "synonym"
                },
                {
                    "name": "nAChRa4",
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                {
                    "name": "nAChRalpha4",
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                },
                {
                    "name": "nAChR",
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                },
                {
                    "name": "nAcRalpha-4",
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                },
                {
                    "name": "nAcRalpha-80B",
                    "type": "synonym"
                },
                {
                    "name": "nAcRalpha-80",
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                },
                {
                    "name": "nAcRaplha-80B",
                    "type": "synonym"
                },
                {
                    "name": "redeye",
                    "type": "synonym"
                },
                {
                    "name": "rye",
                    "type": "synonym"
                }
            ],
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                    "id": "0110678",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17644-1",
            "uniprot_ac": "P17644",
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                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Acetylcholine receptor subunit alpha-like 2",
                    "type": "recommended"
                },
                {
                    "name": "CG6844-PA",
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                },
                {
                    "name": "Dalpha2 nicotimic acetylcholine receptor",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha2",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinic acetylcholine receptor alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "SAD",
                    "type": "synonym"
                },
                {
                    "name": "drosophila alpha-like subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "nAChRalpha2-PA",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor alpha 96Ab",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor alpha subunit gene at 96AB",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "nicotinic acetylcholine receptor alpha2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "second alpha-like subunit of drosophila",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "nAChRalpha2",
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                {
                    "name": "Acr96Ab",
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                },
                {
                    "name": "AcrE",
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                },
                {
                    "name": "CG6844-PA",
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                },
                {
                    "name": "CG6844",
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                },
                {
                    "name": "D[a2]",
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                },
                {
                    "name": "Da2",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha2/SAD",
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                {
                    "name": "Dalpha2",
                    "type": "synonym"
                },
                {
                    "name": "Dalpha",
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                },
                {
                    "name": "Dmalpha2",
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                {
                    "name": "Dmel\\CG6844",
                    "type": "synonym"
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                {
                    "name": "SAD",
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                },
                {
                    "name": "alpha2",
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                {
                    "name": "alpha[[2]]",
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                },
                {
                    "name": "da2",
                    "type": "synonym"
                },
                {
                    "name": "nAChR Dalpha2",
                    "type": "synonym"
                },
                {
                    "name": "nAChR-alpha96Ab",
                    "type": "synonym"
                },
                {
                    "name": "nAChRa2",
                    "type": "synonym"
                },
                {
                    "name": "nAChRalpha-96A",
                    "type": "synonym"
                },
                {
                    "name": "nAChRalpha2",
                    "type": "synonym"
                },
                {
                    "name": "nAChR",
                    "type": "synonym"
                },
                {
                    "name": "nAcRalpha-96Ab",
                    "type": "synonym"
                },
                {
                    "name": "nAcRs",
                    "type": "synonym"
                },
                {
                    "name": "nAchRalpha-96Ab",
                    "type": "synonym"
                },
                {
                    "name": "nAcr96Ab",
                    "type": "synonym"
                },
                {
                    "name": "sad",
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                }
            ],
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                {
                    "id": "0110678",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110678"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110678"
}