{
    "disease_id": "DOID:0110677",
    "recommended_name": {
        "id": "DOID:0110677",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110677",
        "name": "congenital myasthenic syndrome 4B",
        "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110677",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110677",
            "name": "CMS4B",
            "description": ""
        },
        {
            "id": "DOID:0110677",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110677",
            "name": "congenital myasthenic syndrome 4B fast-channel",
            "description": ""
        },
        {
            "id": "MONDO:0014586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014586",
            "name": "congenital myasthenic syndrome 4B",
            "description": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."
        },
        {
            "id": "MONDO:0014586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014586",
            "name": "CMS4B",
            "description": ""
        },
        {
            "id": "MONDO:0014586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014586",
            "name": "congenital myasthenic syndrome type 4B",
            "description": ""
        },
        {
            "id": "MONDO:0014586",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014586",
            "name": "myasthenic syndrome, congenital, 4B, FAST-channel",
            "description": ""
        },
        {
            "id": "MIM:616324",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616324",
            "name": "Myasthenic syndrome, congenital, 4B, fast-channel",
            "description": "Myasthenic syndrome, congenital, 4B, fast-channel"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110677"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110677",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110677",
            "categories": []
        },
        {
            "id": "MONDO:0014586",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014586",
            "categories": []
        },
        {
            "id": "MIM:616324",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616324",
            "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": "0110677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110677"
                }
            ]
        },
        {
            "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"
                },
                {
                    "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"
                }
            ],
            "record_id": "P20782-1",
            "evidence": [
                {
                    "id": "0110677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110677"
                }
            ]
        },
        {
            "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]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetylcholine receptor subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "AchR epsilon subunit",
                    "type": "synonym"
                },
                {
                    "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": "616324",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616324"
                },
                {
                    "id": "0110677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110677"
                }
            ]
        },
        {
            "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",
            "evidence": [
                {
                    "id": "0110677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110677"
                }
            ]
        },
        {
            "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",
                    "type": "synonym"
                },
                {
                    "name": "AChR",
                    "type": "synonym"
                },
                {
                    "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"
                },
                {
                    "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"
                },
                {
                    "name": "nAcR-beta-64B",
                    "type": "synonym"
                },
                {
                    "name": "nAcR64B",
                    "type": "synonym"
                },
                {
                    "name": "nAcRbeta-64B",
                    "type": "synonym"
                }
            ],
            "record_id": "P04755-1",
            "evidence": [
                {
                    "id": "0110677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110677"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110677"
}