{
    "disease_id": "DOID:0080527",
    "recommended_name": {
        "id": "DOID:0080527",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080527",
        "name": "bronchiectasis 2",
        "description": "A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel."
    },
    "synonyms": [
        {
            "id": "MONDO:0013087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013087",
            "name": "bronchiectasis with or without elevated sweat chloride 2",
            "description": "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene."
        },
        {
            "id": "MONDO:0013087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013087",
            "name": "SCNN1A bronchiectasis",
            "description": ""
        },
        {
            "id": "MONDO:0013087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013087",
            "name": "bronchiectasis caused by mutation in SCNN1A",
            "description": ""
        },
        {
            "id": "MONDO:0013087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013087",
            "name": "bronchiectasis with or without elevated sweat chloride 2",
            "description": ""
        },
        {
            "id": "MONDO:0013087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013087",
            "name": "bronchiectasis with or without elevated sweat chloride type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013087",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013087",
            "name": "BESC2",
            "description": ""
        },
        {
            "id": "MIM:613021",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613021",
            "name": "Bronchiectasis with or without elevated sweat chloride 2",
            "description": "Bronchiectasis with or without elevated sweat chloride 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080527"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080527",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080527",
            "categories": []
        },
        {
            "id": "MONDO:0013087",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013087",
            "categories": []
        },
        {
            "id": "MIM:613021",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613021",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61180-1",
            "uniprot_ac": "Q61180",
            "uniprot_id": "SCNNA_MOUSE",
            "refseq_ac": "NP_035454",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial sodium channel subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ENaC alpha",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial Na(+) channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "SCNEA",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "alpha-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive epithelial sodium channel",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, nonvoltage-gated, type I, alpha polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scnn1a",
                    "type": "recommended"
                },
                {
                    "name": "ENaC",
                    "type": "synonym"
                },
                {
                    "name": "SCNEA",
                    "type": "synonym"
                },
                {
                    "name": "Scnn1a",
                    "type": "synonym"
                },
                {
                    "name": "Scnn1",
                    "type": "synonym"
                },
                {
                    "name": "mENaC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61180-1",
            "evidence": [
                {
                    "id": "0080527",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080527"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37088-1",
            "uniprot_ac": "P37088",
            "uniprot_id": "SCNNA_HUMAN",
            "refseq_ac": "NP_001029",
            "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 alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ENaC subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ENaCA",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial Na(+) channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "SCNEA",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel epithelial 1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "alpha ENaC-2",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "alpha-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive epithelial sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "nasal epithelial sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel epithelial 1 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, non voltage gated 1 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, non-voltage-gated 1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, nonvoltage-gated 1 alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCNN1A",
                    "type": "recommended"
                },
                {
                    "name": "BESC2",
                    "type": "synonym"
                },
                {
                    "name": "ENaCalpha",
                    "type": "synonym"
                },
                {
                    "name": "ENaCa",
                    "type": "synonym"
                },
                {
                    "name": "LIDLS3",
                    "type": "synonym"
                },
                {
                    "name": "PHA1B1",
                    "type": "synonym"
                },
                {
                    "name": "SCNEA",
                    "type": "synonym"
                },
                {
                    "name": "SCNN1A",
                    "type": "synonym"
                },
                {
                    "name": "SCNN1",
                    "type": "synonym"
                }
            ],
            "record_id": "P37088-1",
            "evidence": [
                {
                    "id": "613021",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613021"
                },
                {
                    "id": "0080527",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080527"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37089-1",
            "uniprot_ac": "P37089",
            "uniprot_id": "SCNNA_RAT",
            "refseq_ac": "NP_113736",
            "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 alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "Amiloride-sensitive sodium channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial Na(+) channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Nonvoltage-gated sodium channel 1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "SCNEA",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ENaC",
                    "type": "synonym"
                },
                {
                    "name": "alpha-NaCH",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive epithelial sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "amiloride-sensitive sodium channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "epithelial Na(+) channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "epithelial sodium channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "nonvoltage-gated sodium channel 1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel epithelial 1 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, non-voltage-gated 1 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, nonvoltage-gated 1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, nonvoltage-gated, type I, alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scnn1a",
                    "type": "recommended"
                },
                {
                    "name": "ENaCA",
                    "type": "synonym"
                },
                {
                    "name": "RCNaCh1",
                    "type": "synonym"
                },
                {
                    "name": "RCNaCh",
                    "type": "synonym"
                },
                {
                    "name": "Renac",
                    "type": "synonym"
                },
                {
                    "name": "Scnn1a",
                    "type": "synonym"
                }
            ],
            "record_id": "P37089-1",
            "evidence": [
                {
                    "id": "0080527",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080527"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080527"
}