{
    "disease_id": "DOID:0081137",
    "recommended_name": {
        "id": "DOID:0081137",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081137",
        "name": "agammaglobulinemia 3",
        "description": "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2."
    },
    "synonyms": [
        {
            "id": "MONDO:0013288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013288",
            "name": "agammaglobulinemia 3, autosomal recessive",
            "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene."
        },
        {
            "id": "MONDO:0013288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013288",
            "name": "CD79A autosomal agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0013288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013288",
            "name": "agammaglobulinemia 3, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013288",
            "name": "autosomal agammaglobulinemia caused by mutation in CD79A",
            "description": ""
        },
        {
            "id": "MONDO:0013288",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013288",
            "name": "AGM3",
            "description": ""
        },
        {
            "id": "MIM:613501",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613501",
            "name": "Agammaglobulinemia 3, autosomal recessive",
            "description": "Agammaglobulinemia 3, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081137"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081137",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081137",
            "categories": []
        },
        {
            "id": "MONDO:0013288",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013288",
            "categories": []
        },
        {
            "id": "MIM:613501",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613501",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P8N4-1",
            "uniprot_ac": "A0A8M1P8N4",
            "uniprot_id": "A0A8M1P8N4_DANRE",
            "refseq_ac": "NP_001313399",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell antigen receptor complex-associated protein alpha chain precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cd79a",
                    "type": "recommended"
                },
                {
                    "name": "cd79a",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-64k10.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P8N4-1",
            "evidence": [
                {
                    "id": "0081137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11911-1",
            "uniprot_ac": "P11911",
            "uniprot_id": "CD79A_MOUSE",
            "refseq_ac": "NP_031681",
            "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 alpha chain",
                    "type": "recommended"
                },
                {
                    "name": "B-cell antigen receptor complex-associated protein alpha chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "B-cell antigen receptor complex-associated protein alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "Ig-alpha",
                    "type": "synonym"
                },
                {
                    "name": "MB-1 membrane glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-bound immunoglobulin-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Surface IgM-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound immunoglobulin-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "surface IgM-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd79a",
                    "type": "recommended"
                },
                {
                    "name": "Cd79a",
                    "type": "synonym"
                },
                {
                    "name": "Ig-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Igalpha",
                    "type": "synonym"
                },
                {
                    "name": "Iga",
                    "type": "synonym"
                },
                {
                    "name": "Ly-54",
                    "type": "synonym"
                },
                {
                    "name": "Ly54",
                    "type": "synonym"
                },
                {
                    "name": "Mb-1",
                    "type": "synonym"
                },
                {
                    "name": "mb-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P11911-1",
            "evidence": [
                {
                    "id": "0081137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11912-1",
            "uniprot_ac": "P11912",
            "uniprot_id": "CD79A_HUMAN",
            "refseq_ac": "NP_001774",
            "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 alpha chain",
                    "type": "recommended"
                },
                {
                    "name": "B-cell antigen receptor complex-associated protein alpha chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "B-cell antigen receptor complex-associated protein alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "CD79a antigen (immunoglobulin-associated alpha)",
                    "type": "synonym"
                },
                {
                    "name": "CD79a molecule, immunoglobulin-associated alpha",
                    "type": "synonym"
                },
                {
                    "name": "Ig-alpha",
                    "type": "synonym"
                },
                {
                    "name": "MB-1 membrane glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-bound immunoglobulin-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Surface IgM-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "ig-alpha",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound immunoglobulin-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "surface IgM-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD79A",
                    "type": "recommended"
                },
                {
                    "name": "CD79A",
                    "type": "synonym"
                },
                {
                    "name": "IGAlpha",
                    "type": "synonym"
                },
                {
                    "name": "IGA",
                    "type": "synonym"
                },
                {
                    "name": "MB-1",
                    "type": "synonym"
                },
                {
                    "name": "MB1",
                    "type": "synonym"
                }
            ],
            "record_id": "P11912-1",
            "evidence": [
                {
                    "id": "613501",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613501"
                },
                {
                    "id": "0081137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1MAC3-1",
            "uniprot_ac": "F1MAC3",
            "uniprot_id": "F1MAC3_RAT",
            "refseq_ac": "NP_001389476",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "-cell antigen receptor complex-associated protein alpha chain-like",
                    "type": "synonym"
                },
                {
                    "name": "B-cell antigen receptor complex-associated protein alpha chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "B-cell antigen receptor complex-associated protein alpha chain-like",
                    "type": "synonym"
                },
                {
                    "name": "CD79A antigen (immunoglobulin-associated alpha)",
                    "type": "synonym"
                },
                {
                    "name": "CD79a molecule",
                    "type": "synonym"
                },
                {
                    "name": "Cd79a molecule, immunoglobulin-associated alpha",
                    "type": "synonym"
                },
                {
                    "name": "Cd79a molecule-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd79a",
                    "type": "recommended"
                },
                {
                    "name": "Cd79al",
                    "type": "synonym"
                },
                {
                    "name": "Cd79a",
                    "type": "synonym"
                }
            ],
            "record_id": "F1MAC3-1",
            "evidence": [
                {
                    "id": "0081137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081137"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081137"
}