{
    "disease_id": "DOID:0081138",
    "recommended_name": {
        "id": "DOID:0081138",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081138",
        "name": "agammaglobulinemia 6",
        "description": "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0012987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012987",
            "name": "agammaglobulinemia 6, autosomal recessive",
            "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene."
        },
        {
            "id": "MONDO:0012987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012987",
            "name": "CD79B autosomal agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0012987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012987",
            "name": "agammaglobulinemia 6, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012987",
            "name": "autosomal agammaglobulinemia caused by mutation in CD79B",
            "description": ""
        },
        {
            "id": "MONDO:0012987",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012987",
            "name": "AGM6",
            "description": ""
        },
        {
            "id": "MIM:612692",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612692",
            "name": "Agammaglobulinemia 6, autosomal recessive",
            "description": "Agammaglobulinemia 6, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081138"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081138",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081138",
            "categories": []
        },
        {
            "id": "MONDO:0012987",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012987",
            "categories": []
        },
        {
            "id": "MIM:612692",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612692",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4ID76-1",
            "uniprot_ac": "A0A0R4ID76",
            "uniprot_id": "A0A0R4ID76_DANRE",
            "refseq_ac": "XP_021335890",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein cd79b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein cd79b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cd79b",
                    "type": "recommended"
                },
                {
                    "name": "cd79b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4ID76-1",
            "evidence": [
                {
                    "id": "0081138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15530-1",
            "uniprot_ac": "P15530",
            "uniprot_id": "CD79B_MOUSE",
            "refseq_ac": "NP_001300868",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell antigen receptor complex-associated protein beta chain",
                    "type": "recommended"
                },
                {
                    "name": "B-cell antigen receptor complex-associated protein beta chain isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "B-cell antigen receptor complex-associated protein beta chain",
                    "type": "synonym"
                },
                {
                    "name": "B-cell-specific glycoprotein B29",
                    "type": "synonym"
                },
                {
                    "name": "Ig-beta",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin-associated B29 protein",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-associated B29 protein",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-associated beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd79b",
                    "type": "recommended"
                },
                {
                    "name": "B29",
                    "type": "synonym"
                },
                {
                    "name": "Cd79b",
                    "type": "synonym"
                },
                {
                    "name": "Ig-beta",
                    "type": "synonym"
                },
                {
                    "name": "Igbeta",
                    "type": "synonym"
                },
                {
                    "name": "Igb",
                    "type": "synonym"
                }
            ],
            "record_id": "P15530-1",
            "evidence": [
                {
                    "id": "0081138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40259-1",
            "uniprot_ac": "P40259",
            "uniprot_id": "CD79B_HUMAN",
            "refseq_ac": "NP_000617",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell antigen receptor complex-associated protein beta chain",
                    "type": "recommended"
                },
                {
                    "name": "B-cell antigen receptor complex-associated protein beta chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "B-cell antigen receptor complex-associated protein beta chain",
                    "type": "synonym"
                },
                {
                    "name": "B-cell-specific glycoprotein B29",
                    "type": "synonym"
                },
                {
                    "name": "CD79b antigen (immunoglobulin-associated beta)",
                    "type": "synonym"
                },
                {
                    "name": "CD79b molecule, immunoglobulin-associated beta",
                    "type": "synonym"
                },
                {
                    "name": "Ig-beta",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin-associated B29 protein",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-associated B29 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD79B",
                    "type": "recommended"
                },
                {
                    "name": "AGM6",
                    "type": "synonym"
                },
                {
                    "name": "B29",
                    "type": "synonym"
                },
                {
                    "name": "CD79B",
                    "type": "synonym"
                },
                {
                    "name": "IGB",
                    "type": "synonym"
                },
                {
                    "name": "Igbeta",
                    "type": "synonym"
                }
            ],
            "record_id": "P40259-1",
            "evidence": [
                {
                    "id": "612692",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612692"
                },
                {
                    "id": "0081138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8J8XPU7-1",
            "uniprot_ac": "A0A8J8XPU7",
            "uniprot_id": "A0A8J8XPU7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell antigen receptor complex-associated protein beta chain",
                    "type": "recommended"
                },
                {
                    "name": "B-cell-specific glycoprotein B29",
                    "type": "synonym"
                },
                {
                    "name": "Ig-beta",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin-associated B29 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd79b",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8J8XPU7-1",
            "evidence": [
                {
                    "id": "0081138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081138"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081138"
}