{
    "disease_id": "DOID:0060027",
    "recommended_name": {
        "id": "DOID:0060027",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060027",
        "name": "agammaglobulinemia 4",
        "description": "An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2."
    },
    "synonyms": [
        {
            "id": "DOID:0060027",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060027",
            "name": "B cell linker protein deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060027",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060027",
            "name": "B-cell linker protein deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060027",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060027",
            "name": "BLNK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013289",
            "name": "agammaglobulinemia 4, autosomal recessive",
            "description": "Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene."
        },
        {
            "id": "MONDO:0013289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013289",
            "name": "AGM4",
            "description": ""
        },
        {
            "id": "MONDO:0013289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013289",
            "name": "B cell linker protein deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013289",
            "name": "BLNK autosomal agammaglobulinemia",
            "description": ""
        },
        {
            "id": "MONDO:0013289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013289",
            "name": "agammaglobulinemia 4, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013289",
            "name": "agammaglobulinemia, autosomal recessive, due to Blnk defect",
            "description": ""
        },
        {
            "id": "MONDO:0013289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013289",
            "name": "autosomal agammaglobulinemia caused by mutation in BLNK",
            "description": ""
        },
        {
            "id": "MIM:613502",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613502",
            "name": "Agammaglobulinemia 4, autosomal recessive",
            "description": "Agammaglobulinemia 4, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060027"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060027",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060027",
            "categories": []
        },
        {
            "id": "MONDO:0013289",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013289",
            "categories": []
        },
        {
            "id": "MIM:613502",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613502",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QUN3-1",
            "uniprot_ac": "Q9QUN3",
            "uniprot_id": "BLNK_MOUSE",
            "refseq_ac": "NP_032554",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell linker protein",
                    "type": "recommended"
                },
                {
                    "name": "B-cell adapter containing a SH2 domain protein",
                    "type": "synonym"
                },
                {
                    "name": "B-cell adapter containing a Src homology 2 domain protein",
                    "type": "synonym"
                },
                {
                    "name": "B-cell linker protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "B-cell linker protein",
                    "type": "synonym"
                },
                {
                    "name": "Cytoplasmic adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte antigen 57",
                    "type": "synonym"
                },
                {
                    "name": "Slp-65",
                    "type": "synonym"
                },
                {
                    "name": "Src homology 2 domain-containing leukocyte protein of 65 kDa",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte antigen 57",
                    "type": "synonym"
                },
                {
                    "name": "src homology 2 domain-containing leukocyte protein of 65 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Blnk",
                    "type": "recommended"
                },
                {
                    "name": "BASH",
                    "type": "synonym"
                },
                {
                    "name": "Bash",
                    "type": "synonym"
                },
                {
                    "name": "Bca",
                    "type": "synonym"
                },
                {
                    "name": "Blnk",
                    "type": "synonym"
                },
                {
                    "name": "Ly-57",
                    "type": "synonym"
                },
                {
                    "name": "Ly57",
                    "type": "synonym"
                },
                {
                    "name": "Lyw-57",
                    "type": "synonym"
                },
                {
                    "name": "SLP-65",
                    "type": "synonym"
                },
                {
                    "name": "Slp65",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QUN3-1",
            "evidence": [
                {
                    "id": "0060027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WV28-1",
            "uniprot_ac": "Q8WV28",
            "uniprot_id": "BLNK_HUMAN",
            "refseq_ac": "NP_001107566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell linker protein",
                    "type": "recommended"
                },
                {
                    "name": "B cell adaptor containing SH2 domain",
                    "type": "synonym"
                },
                {
                    "name": "B-cell activation",
                    "type": "synonym"
                },
                {
                    "name": "B-cell adapter containing a SH2 domain protein",
                    "type": "synonym"
                },
                {
                    "name": "B-cell adapter containing a Src homology 2 domain protein",
                    "type": "synonym"
                },
                {
                    "name": "B-cell linker protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "B-cell linker protein",
                    "type": "synonym"
                },
                {
                    "name": "Cytoplasmic adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "SLP-65",
                    "type": "synonym"
                },
                {
                    "name": "Src homology 2 domain-containing leukocyte protein of 65 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Src homology [SH2] domain-containing leukocyte protein of 65 kD",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic adapter protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BLNK",
                    "type": "recommended"
                },
                {
                    "name": "AGM4",
                    "type": "synonym"
                },
                {
                    "name": "BASH",
                    "type": "synonym"
                },
                {
                    "name": "BLNK-S",
                    "type": "synonym"
                },
                {
                    "name": "BLNK",
                    "type": "synonym"
                },
                {
                    "name": "LY57",
                    "type": "synonym"
                },
                {
                    "name": "SLP-65",
                    "type": "synonym"
                },
                {
                    "name": "SLP65",
                    "type": "synonym"
                },
                {
                    "name": "bca",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WV28-1",
            "evidence": [
                {
                    "id": "613502",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613502"
                },
                {
                    "id": "0060027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KM52-1",
            "uniprot_ac": "Q4KM52",
            "uniprot_id": "BLNK_RAT",
            "refseq_ac": "NP_001020938",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell linker protein",
                    "type": "recommended"
                },
                {
                    "name": "B-cell linker protein",
                    "type": "synonym"
                },
                {
                    "name": "Cytoplasmic adapter protein",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic adapter protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Blnk",
                    "type": "recommended"
                },
                {
                    "name": "Blnk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KM52-1",
            "evidence": [
                {
                    "id": "0060027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060027"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAA1-1",
            "uniprot_ac": "Q9VAA1",
            "uniprot_id": "Q9VAA1_DROME",
            "refseq_ac": "NP_001303487",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH2 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG15529-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG15529",
                    "type": "recommended"
                },
                {
                    "name": "CG15529",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15529",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15529",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAA1-1",
            "evidence": [
                {
                    "id": "0060027",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060027"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060027"
}