{
    "disease_id": "DOID:0080528",
    "recommended_name": {
        "id": "DOID:0080528",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080528",
        "name": "bronchiectasis 3",
        "description": "A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel."
    },
    "synonyms": [
        {
            "id": "MONDO:0013112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013112",
            "name": "bronchiectasis with or without elevated sweat chloride 3",
            "description": "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene."
        },
        {
            "id": "MONDO:0013112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013112",
            "name": "SCNN1G bronchiectasis",
            "description": ""
        },
        {
            "id": "MONDO:0013112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013112",
            "name": "bronchiectasis caused by mutation in SCNN1G",
            "description": ""
        },
        {
            "id": "MONDO:0013112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013112",
            "name": "bronchiectasis with or without elevated sweat chloride 3",
            "description": ""
        },
        {
            "id": "MONDO:0013112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013112",
            "name": "bronchiectasis with or without elevated sweat chloride type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013112",
            "name": "BESC3",
            "description": ""
        },
        {
            "id": "MIM:613071",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613071",
            "name": "Bronchiectasis with or without elevated sweat chloride 3",
            "description": "Bronchiectasis with or without elevated sweat chloride 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080528"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080528",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080528",
            "categories": []
        },
        {
            "id": "MONDO:0013112",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013112",
            "categories": []
        },
        {
            "id": "MIM:613071",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613071",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WU39-1",
            "uniprot_ac": "Q9WU39",
            "uniprot_id": "SCNNG_MOUSE",
            "refseq_ac": "NP_035456",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial sodium channel subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "ENaC gamma",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial Na(+) channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "SCNEG",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "gamma-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "gamma-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scnn1g",
                    "type": "recommended"
                },
                {
                    "name": "SCNEG",
                    "type": "synonym"
                },
                {
                    "name": "Scnn1g",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WU39-1",
            "evidence": [
                {
                    "id": "0080528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080528"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51170-1",
            "uniprot_ac": "P51170",
            "uniprot_id": "SCNNG_HUMAN",
            "refseq_ac": "NP_001030",
            "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 gamma",
                    "type": "recommended"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "ENaC gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "ENaC subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "ENaCG",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial Na(+) channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "SCNEG",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel epithelial 1 subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive epithelial sodium channel gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel gamma-subunit",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "gamma-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "gamma-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "sodium channe epithelial 1 gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel epithelial 1 gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, non-voltage-gated 1, gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, nonvoltage-gated 1, gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCNN1G",
                    "type": "recommended"
                },
                {
                    "name": "BESC3",
                    "type": "synonym"
                },
                {
                    "name": "ENaCgamma",
                    "type": "synonym"
                },
                {
                    "name": "ENaCg",
                    "type": "synonym"
                },
                {
                    "name": "LDLS2",
                    "type": "synonym"
                },
                {
                    "name": "PHA1B3",
                    "type": "synonym"
                },
                {
                    "name": "PHA1",
                    "type": "synonym"
                },
                {
                    "name": "SCNEG",
                    "type": "synonym"
                },
                {
                    "name": "SCNN1G",
                    "type": "synonym"
                }
            ],
            "record_id": "P51170-1",
            "evidence": [
                {
                    "id": "613071",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613071"
                },
                {
                    "id": "0080528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080528"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37091-1",
            "uniprot_ac": "P37091",
            "uniprot_id": "SCNNG_RAT",
            "refseq_ac": "NP_058742",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial sodium channel subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "SCNEG",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel, nonvoltage-gated 1, gamma (epithelial)",
                    "type": "synonym"
                },
                {
                    "name": "amiloride sensitive sodium channel gamma1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "gamma-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "gamma-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "pithelial Na(+) channel subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel epithelial 1 gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, non-voltage-gated 1, gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, nonvoltage-gated, type I, gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scnn1g",
                    "type": "recommended"
                },
                {
                    "name": "ENaC",
                    "type": "synonym"
                },
                {
                    "name": "RCNaCh2",
                    "type": "synonym"
                },
                {
                    "name": "Scnn1g",
                    "type": "synonym"
                }
            ],
            "record_id": "P37091-1",
            "evidence": [
                {
                    "id": "0080528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080528"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IMV2-1",
            "uniprot_ac": "Q8IMV2",
            "uniprot_id": "Q8IMV2_DROME",
            "refseq_ac": "NP_733051",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG31105-PB",
                    "type": "synonym"
                },
                {
                    "name": "Pickpocket 22, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "pickpocket 22, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "ppk22-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ppk22",
                    "type": "recommended"
                },
                {
                    "name": "CG31105",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31105",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31105",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0051105",
                    "type": "synonym"
                },
                {
                    "name": "Ppk22",
                    "type": "synonym"
                },
                {
                    "name": "ppk22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IMV2-1",
            "evidence": [
                {
                    "id": "0080528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080528"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080528"
}