{
    "disease_id": "DOID:0080526",
    "recommended_name": {
        "id": "DOID:0080526",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080526",
        "name": "bronchiectasis 1",
        "description": "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0008887",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008887",
            "name": "bronchiectasis with or without elevated sweat chloride 1",
            "description": ""
        },
        {
            "id": "MONDO:0008887",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008887",
            "name": "bronchiectasis with or without elevated sweat chloride 1",
            "description": ""
        },
        {
            "id": "MONDO:0008887",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008887",
            "name": "bronchiectasis with or without elevated sweat chloride 1, modifier of",
            "description": ""
        },
        {
            "id": "MONDO:0008887",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008887",
            "name": "bronchiectasis with or without elevated sweat chloride type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008887",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008887",
            "name": "BESC1",
            "description": ""
        },
        {
            "id": "MIM:211400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211400",
            "name": "Bronchiectasis with or without elevated sweat chloride 1",
            "description": "Bronchiectasis with or without elevated sweat chloride 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080526"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080526",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080526",
            "categories": []
        },
        {
            "id": "MONDO:0008887",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008887",
            "categories": []
        },
        {
            "id": "MIM:211400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/211400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LX78-1",
            "uniprot_ac": "Q1LX78",
            "uniprot_id": "CFTR_DANRE",
            "refseq_ac": "NP_001038348",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystic fibrosis transmembrane conductance regulator",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "Channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "abcc7",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cftr",
                    "type": "recommended"
                },
                {
                    "name": "cftr",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-270i2.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LX78-1",
            "evidence": [
                {
                    "id": "0080526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26361-1",
            "uniprot_ac": "P26361",
            "uniprot_id": "CFTR_MOUSE",
            "refseq_ac": "NP_066388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystic fibrosis transmembrane conductance regulator",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, subfamily c, member 7",
                    "type": "synonym"
                },
                {
                    "name": "CFTR",
                    "type": "synonym"
                },
                {
                    "name": "Channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator homolog",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cftr",
                    "type": "recommended"
                },
                {
                    "name": "Abcc7",
                    "type": "synonym"
                },
                {
                    "name": "Cftr",
                    "type": "synonym"
                }
            ],
            "record_id": "P26361-1",
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                {
                    "id": "0080526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WU38-1",
            "uniprot_ac": "Q9WU38",
            "uniprot_id": "SCNNB_MOUSE",
            "refseq_ac": "NP_001258952",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial sodium channel subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Beta-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Beta-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "ENaC beta",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial Na(+) channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "SCNEB",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "beta-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "beta-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scnn1b",
                    "type": "recommended"
                },
                {
                    "name": "Scnn1b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WU38-1",
            "evidence": [
                {
                    "id": "0080526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51168-1",
            "uniprot_ac": "P51168",
            "uniprot_id": "SCNNB_HUMAN",
            "refseq_ac": "NP_000327",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial sodium channel subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Beta-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Beta-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "ENaC subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "ENaCB",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial Na(+) channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "SCNEB",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit beta 1",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel beta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel beta-3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit beta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "mutant sodium channel epithelial 1 beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "nasal epithelial sodium channel beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel epithelial 1 beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, non-voltage-gated 1, beta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCNN1B",
                    "type": "recommended"
                },
                {
                    "name": "BESC1",
                    "type": "synonym"
                },
                {
                    "name": "ENaCbeta",
                    "type": "synonym"
                },
                {
                    "name": "ENaCb",
                    "type": "synonym"
                },
                {
                    "name": "LIDLS1",
                    "type": "synonym"
                },
                {
                    "name": "PHA1B2",
                    "type": "synonym"
                },
                {
                    "name": "SCNEB",
                    "type": "synonym"
                },
                {
                    "name": "SCNN1B",
                    "type": "synonym"
                },
                {
                    "name": "beta-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "beta-NaCH",
                    "type": "synonym"
                }
            ],
            "record_id": "P51168-1",
            "evidence": [
                {
                    "id": "211400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/211400"
                },
                {
                    "id": "0080526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34158-1",
            "uniprot_ac": "P34158",
            "uniprot_id": "CFTR_RAT",
            "refseq_ac": "NP_113694",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystic fibrosis transmembrane conductance regulator",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "CFTR",
                    "type": "synonym"
                },
                {
                    "name": "Channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator homolog",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Cftr",
                    "type": "recommended"
                },
                {
                    "name": "Abcc7",
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                },
                {
                    "name": "Cftr",
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                {
                    "name": "RGD1561193",
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                }
            ],
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                    "id": "0080526",
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                }
            ]
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        {
            "uniprot_canonical_ac": "P37090-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Epithelial sodium channel subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Beta-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Beta-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial Na(+) channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "SCNEB",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "beta-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "beta-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel epithelial 1 beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, non-voltage-gated 1, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, nonvoltage-gated, type I, beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scnn1b",
                    "type": "recommended"
                },
                {
                    "name": "RNENACB",
                    "type": "synonym"
                },
                {
                    "name": "Scnn1b",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O61365-1",
            "uniprot_ac": "O61365",
            "uniprot_id": "NACH_DROME",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein Nach",
                    "type": "recommended"
                },
                {
                    "name": "CG8178-PE",
                    "type": "synonym"
                },
                {
                    "name": "Nach-PE",
                    "type": "synonym"
                },
                {
                    "name": "Pickpocket protein 4",
                    "type": "synonym"
                },
                {
                    "name": "nach, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "pickpocket 4",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Nach",
                    "type": "recommended"
                },
                {
                    "name": "CG8178",
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                },
                {
                    "name": "Dmel\\CG8178",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8178",
                    "type": "synonym"
                },
                {
                    "name": "Nach",
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                },
                {
                    "name": "PPK4",
                    "type": "synonym"
                },
                {
                    "name": "ppk4",
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                }
            ],
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                {
                    "id": "0080526",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080526"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N123-1",
            "uniprot_ac": "Q8N123",
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                {
                    "name": "Homo sapiens",
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                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CPX chromosomal region candidate gene 1 protein",
                    "type": "recommended"
                },
                {
                    "name": "CPX chromosomal region candidate gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "CT77",
                    "type": "synonym"
                },
                {
                    "name": "Cancer/testis antigen 77",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 77",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CPXCR1",
                    "type": "recommended"
                },
                {
                    "name": "CPXCR1",
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                },
                {
                    "name": "CT77",
                    "type": "synonym"
                }
            ],
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                    "id": "0080526",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080526"
                }
            ]
        },
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                {
                    "name": "Homo sapiens",
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                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Cystic fibrosis transmembrane conductance regulator",
                    "type": "recommended"
                },
                {
                    "name": "5.6.1.6",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 7",
                    "type": "synonym"
                },
                {
                    "name": "CFTR",
                    "type": "synonym"
                },
                {
                    "name": "Channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent chloride channel",
                    "type": "synonym"
                },
                {
                    "name": "channel conductance-controlling ATPase",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulating",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)",
                    "type": "synonym"
                },
                {
                    "name": "cystic fibrosis transmembrane conductance regulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFTR",
                    "type": "recommended"
                },
                {
                    "name": "ABC35",
                    "type": "synonym"
                },
                {
                    "name": "ABCC7",
                    "type": "synonym"
                },
                {
                    "name": "CFTR/MRP",
                    "type": "synonym"
                },
                {
                    "name": "CFTR",
                    "type": "synonym"
                },
                {
                    "name": "CF",
                    "type": "synonym"
                },
                {
                    "name": "MRP7",
                    "type": "synonym"
                },
                {
                    "name": "TNR-CFTR",
                    "type": "synonym"
                },
                {
                    "name": "dJ760C5.1",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0080526",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080526"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080526"
}