{
    "disease_id": "DOID:0080588",
    "recommended_name": {
        "id": "DOID:0080588",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080588",
        "name": "agammaglobulinemia 5",
        "description": "An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0013290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013290",
            "name": "agammaglobulinemia 5, autosomal dominant",
            "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene."
        },
        {
            "id": "MONDO:0013290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013290",
            "name": "LRRC8A autosomal agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0013290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013290",
            "name": "agammaglobulinemia 5, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013290",
            "name": "autosomal agammaglobulinemia caused by mutation in LRRC8A",
            "description": ""
        },
        {
            "id": "MONDO:0013290",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013290",
            "name": "AGM5",
            "description": ""
        },
        {
            "id": "MIM:613506",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613506",
            "name": "Agammaglobulinemia 5, autosomal dominant",
            "description": "Agammaglobulinemia 5, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080588"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080588",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080588",
            "categories": []
        },
        {
            "id": "MONDO:0013290",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013290",
            "categories": []
        },
        {
            "id": "MIM:613506",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613506",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2BF98-1",
            "uniprot_ac": "A2BF98",
            "uniprot_id": "A2BF98_DANRE",
            "refseq_ac": "XP_005165659",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Volume-regulated anion channel subunit LRRC8A",
                    "type": "synonym"
                },
                {
                    "name": "volume-regulated anion channel subunit LRRC8A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lrrc8ab",
                    "type": "recommended"
                },
                {
                    "name": "lrrc8ab",
                    "type": "synonym"
                }
            ],
            "record_id": "A2BF98-1",
            "evidence": [
                {
                    "id": "0080588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80WG5-1",
            "uniprot_ac": "Q80WG5",
            "uniprot_id": "LRC8A_MOUSE",
            "refseq_ac": "NP_808393",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Volume-regulated anion channel subunit LRRC8A",
                    "type": "recommended"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 8A",
                    "type": "synonym"
                },
                {
                    "name": "Protein ebouriffe",
                    "type": "synonym"
                },
                {
                    "name": "Swelling protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ebo",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing 8",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 8A",
                    "type": "synonym"
                },
                {
                    "name": "protein ebouriffe",
                    "type": "synonym"
                },
                {
                    "name": "swelling protein 1",
                    "type": "synonym"
                },
                {
                    "name": "volume-regulated anion channel subunit LRRC8A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrrc8a",
                    "type": "recommended"
                },
                {
                    "name": "Lrrc8a",
                    "type": "synonym"
                },
                {
                    "name": "Lrrc8",
                    "type": "synonym"
                },
                {
                    "name": "SWELL1",
                    "type": "synonym"
                },
                {
                    "name": "Swell1",
                    "type": "synonym"
                },
                {
                    "name": "ebo",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1437",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80WG5-1",
            "evidence": [
                {
                    "id": "0080588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IWT6-1",
            "uniprot_ac": "Q8IWT6",
            "uniprot_id": "LRC8A_HUMAN",
            "refseq_ac": "NP_001120716",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Volume-regulated anion channel subunit LRRC8A",
                    "type": "recommended"
                },
                {
                    "name": "HsLRRC8A",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 8A",
                    "type": "synonym"
                },
                {
                    "name": "Swelling protein 1",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich repeat containing 8 family member A",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 8A",
                    "type": "synonym"
                },
                {
                    "name": "swelling protein 1",
                    "type": "synonym"
                },
                {
                    "name": "volume-regulated anion channel subunit LRRC8A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRRC8A",
                    "type": "recommended"
                },
                {
                    "name": "AGM5",
                    "type": "synonym"
                },
                {
                    "name": "HsLRRC8A",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1437",
                    "type": "synonym"
                },
                {
                    "name": "LRRC8A",
                    "type": "synonym"
                },
                {
                    "name": "LRRC8",
                    "type": "synonym"
                },
                {
                    "name": "PRO247",
                    "type": "synonym"
                },
                {
                    "name": "SWELL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IWT6-1",
            "evidence": [
                {
                    "id": "613506",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613506"
                },
                {
                    "id": "0080588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V8I7-1",
            "uniprot_ac": "Q4V8I7",
            "uniprot_id": "LRC8A_RAT",
            "refseq_ac": "NP_001019953",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Volume-regulated anion channel subunit LRRC8A",
                    "type": "recommended"
                },
                {
                    "name": "Leucine-rich repeat-containing protein 8A",
                    "type": "synonym"
                },
                {
                    "name": "Swelling protein 1 SWELL1",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich repeat containing 8 family, member A",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich repeat containing 8A",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing 8",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 8A",
                    "type": "synonym"
                },
                {
                    "name": "swelling protein 1 SWELL1",
                    "type": "synonym"
                },
                {
                    "name": "volume-regulated anion channel subunit LRRC8A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrrc8a",
                    "type": "recommended"
                },
                {
                    "name": "Lrrc8a",
                    "type": "synonym"
                },
                {
                    "name": "Lrrc8",
                    "type": "synonym"
                },
                {
                    "name": "SWELL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V8I7-1",
            "evidence": [
                {
                    "id": "0080588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080588"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080588"
}