{
    "disease_id": "DOID:0060681",
    "recommended_name": {
        "id": "DOID:0060681",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060681",
        "name": "autosomal dominant nocturnal frontal lobe epilepsy",
        "description": "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations."
    },
    "synonyms": [
        {
            "id": "DOID:0060681",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060681",
            "name": "ENFL",
            "description": ""
        },
        {
            "id": "MONDO:0010899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010899",
            "name": "autosomal dominant nocturnal frontal lobe epilepsy 1",
            "description": "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene."
        },
        {
            "id": "MONDO:0010899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010899",
            "name": "CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0010899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010899",
            "name": "ENFL1",
            "description": ""
        },
        {
            "id": "MONDO:0010899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010899",
            "name": "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4",
            "description": ""
        },
        {
            "id": "MONDO:0010899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010899",
            "name": "autosomal dominant nocturnal frontal lobe epilepsy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010899",
            "name": "epilepsy, nocturnal frontal lobe, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010899",
            "name": "epilepsy, nocturnal frontal lobe, 1",
            "description": ""
        },
        {
            "id": "MIM:600513",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600513",
            "name": "Epilepsy, nocturnal frontal lobe, 1",
            "description": "Epilepsy, nocturnal frontal lobe, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060682",
            "label": "autosomal dominant nocturnal frontal lobe epilepsy 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060684",
            "label": "autosomal dominant nocturnal frontal lobe epilepsy 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060685",
            "label": "autosomal dominant nocturnal frontal lobe epilepsy 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060686",
            "label": "autosomal dominant nocturnal frontal lobe epilepsy 5",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060681",
        "DOID:0060684",
        "DOID:0060686",
        "DOID:0060682",
        "DOID:0060685"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060681",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060681",
            "categories": []
        },
        {
            "id": "MONDO:0010899",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010899",
            "categories": []
        },
        {
            "id": "MIM:600513",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600513",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "E7F4S7-1",
            "uniprot_ac": "E7F4S7",
            "uniprot_id": "E7F4S7_DANRE",
            "refseq_ac": "XP_005169811",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuronal acetylcholine receptor subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "neuronal acetylcholine receptor subunit beta-2",
                    "type": "synonym"
                }
            ],
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                    "name": "chrnb2",
                    "type": "recommended"
                },
                {
                    "name": "chrnb2",
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                }
            ],
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                    "id": "0060681",
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                }
            ]
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            "uniprot_canonical_ac": "Q9ERK7-1",
            "uniprot_ac": "Q9ERK7",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Neuronal acetylcholine receptor subunit beta-2",
                    "type": "recommended"
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                {
                    "name": "acetylcholine receptor beta 2 neural",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)",
                    "type": "synonym"
                },
                {
                    "name": "neuronal acetylcholine receptor subunit beta-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neuronal acetylcholine receptor subunit beta-2",
                    "type": "synonym"
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            ],
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                    "name": "Chrnb2",
                    "type": "recommended"
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                    "name": "Acrb-2",
                    "type": "synonym"
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                    "name": "Acrb2",
                    "type": "synonym"
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                    "name": "C030030P04Rik",
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                {
                    "name": "Chrnb2",
                    "type": "synonym"
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                    "name": "[b]2-nAchR",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Neuronal acetylcholine receptor subunit alpha-4",
                    "type": "recommended"
                },
                {
                    "name": "cholinergic receptor, nicotinic alpha 4",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, alpha 4 (neuronal)",
                    "type": "synonym"
                },
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                    "name": "cholinergic receptor, nicotinic, alpha polypeptide 4",
                    "type": "synonym"
                },
                {
                    "name": "neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neuronal acetylcholine receptor subunit alpha-4",
                    "type": "synonym"
                },
                {
                    "name": "neuronal nicotinic acetylcholine receptor alpha-4 subunit",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CHRNA4",
                    "type": "recommended"
                },
                {
                    "name": "BFNC",
                    "type": "synonym"
                },
                {
                    "name": "CHRNA4",
                    "type": "synonym"
                },
                {
                    "name": "EBN1",
                    "type": "synonym"
                },
                {
                    "name": "EBN",
                    "type": "synonym"
                },
                {
                    "name": "NACHRA4",
                    "type": "synonym"
                },
                {
                    "name": "NACHR",
                    "type": "synonym"
                },
                {
                    "name": "NACRA4",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "600513",
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                    "url": "https://www.omim.org/entry/600513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12390-1",
            "uniprot_ac": "P12390",
            "uniprot_id": "ACHB2_RAT",
            "refseq_ac": "NP_062170",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuronal acetylcholine receptor subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "N-alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal acetylcholine receptor non-alpha-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor nicotinic beta polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic beta 2",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, beta 2 (neuronal)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, beta subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "neuronal acetylcholine receptor non-alpha-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "neuronal acetylcholine receptor subunit beta-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neuronal acetylcholine receptor subunit beta-2",
                    "type": "synonym"
                }
            ],
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                    "name": "Chrnb2",
                    "type": "recommended"
                },
                {
                    "name": "Acrb2",
                    "type": "synonym"
                },
                {
                    "name": "Chrnb2",
                    "type": "synonym"
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                    "id": "0060681",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060681"
                }
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        },
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            "uniprot_canonical_ac": "P09478-1",
            "uniprot_ac": "P09478",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "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",
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                {
                    "name": "AChRalpha1",
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                    "name": "AChR",
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                    "name": "AChr",
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                    "name": "ALS",
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                {
                    "name": "ALs",
                    "type": "synonym"
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                    "name": "Acr96A",
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                    "name": "AcrB",
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                    "name": "Dalpha1 nAChR",
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                    "name": "Dmel\\CG5610",
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                    "type": "synonym"
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                {
                    "name": "EMS1",
                    "type": "synonym"
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                    "name": "NAcRa96Aa",
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                    "name": "alpha-like",
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                    "type": "synonym"
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                    "name": "als",
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                    "name": "dALS",
                    "type": "synonym"
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                    "name": "nAChR-alpha96Aa",
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                    "type": "synonym"
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                {
                    "name": "nAChRa1",
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                    "type": "synonym"
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                {
                    "name": "nAChRalpha1",
                    "type": "synonym"
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                {
                    "name": "nAChR",
                    "type": "synonym"
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                    "name": "nAcRalpha-96Aa",
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                },
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                    "name": "nAcRs",
                    "type": "synonym"
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                    "name": "nAcr96Aa",
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                    "id": "0060681",
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                    "name": "Drosophila melanogaster",
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                    "name": "CG2302-PC",
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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": "nAChRalpha3",
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                    "name": "Acr7E",
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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": "0060681",
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                }
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                    "name": "AChR protein of drosophila",
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                {
                    "name": "CG11348-PA",
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                {
                    "name": "Nicotinic acetylcholine receptor beta 1",
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                {
                    "name": "nAChRbeta1-PA",
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                {
                    "name": "nicotinic acetylcholine receptor beta 64B",
                    "type": "synonym"
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                {
                    "name": "nicotinic acetylcholine receptor beta1, isoform A",
                    "type": "synonym"
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                {
                    "name": "nicotinic acetylcholine receptor beta1",
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                {
                    "name": "nicotinic acetylcholine receptorb-64B",
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                    "name": "nAChRbeta1",
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                    "name": "AChR64B",
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                    "name": "ARD",
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                    "name": "AchR64B",
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                {
                    "name": "Acr64B",
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                    "name": "AcrD",
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                    "name": "CG11348",
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                    "name": "CG12606",
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                    "name": "Dbeta1",
                    "type": "synonym"
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                    "name": "Dmel_CG11348",
                    "type": "synonym"
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                    "name": "ard",
                    "type": "synonym"
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                    "name": "beta 64B",
                    "type": "synonym"
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                    "name": "beta1 nAChR",
                    "type": "synonym"
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                {
                    "name": "nAChR-beta64B",
                    "type": "synonym"
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                {
                    "name": "nAChRDbeta1",
                    "type": "synonym"
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                {
                    "name": "nAChR_beta1",
                    "type": "synonym"
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                {
                    "name": "nAChRbeta1",
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                {
                    "name": "nAChR",
                    "type": "synonym"
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                {
                    "name": "nAcR-beta-64B",
                    "type": "synonym"
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                {
                    "name": "nAcR64B",
                    "type": "synonym"
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                {
                    "name": "nAcRbeta-64B",
                    "type": "synonym"
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                    "id": "0060681",
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                }
            ]
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            "uniprot_canonical_ac": "O60519-1",
            "uniprot_ac": "O60519",
            "uniprot_id": "CRBL2_HUMAN",
            "refseq_ac": "NP_001301",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "cAMP-responsive element-binding protein-like 2",
                    "type": "recommended"
                },
                {
                    "name": "MHBs-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-responsive element-binding protein-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CREBL2",
                    "type": "recommended"
                },
                {
                    "name": "CREBL2",
                    "type": "synonym"
                }
            ],
            "record_id": "O60519-1",
            "evidence": [
                {
                    "id": "0060681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060681"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17787-1",
            "uniprot_ac": "P17787",
            "uniprot_id": "ACHB2_HUMAN",
            "refseq_ac": "NP_000739",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuronal acetylcholine receptor subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "acetylcholine receptor, nicotinic, beta 2 (neuronal)",
                    "type": "synonym"
                },
                {
                    "name": "beta2 human neuronal nicotinic acetylcholine receptor",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic beta 2",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, beta 2 (neuronal)",
                    "type": "synonym"
                },
                {
                    "name": "cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)",
                    "type": "synonym"
                },
                {
                    "name": "neuronal acetylcholine receptor subunit beta-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neuronal acetylcholine receptor subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "neuronal nicotinic acetylcholine receptor beta 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHRNB2",
                    "type": "recommended"
                },
                {
                    "name": "CHRNB2",
                    "type": "synonym"
                },
                {
                    "name": "EFNL3",
                    "type": "synonym"
                },
                {
                    "name": "nAChRB2",
                    "type": "synonym"
                }
            ],
            "record_id": "P17787-1",
            "evidence": [
                {
                    "id": "0060681",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060681"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060681"
}