{
    "disease_id": "DOID:0111939",
    "recommended_name": {
        "id": "DOID:0111939",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111939",
        "name": "immunodeficiency 37",
        "description": "A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111939",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111939",
            "name": "IMD37",
            "description": ""
        },
        {
            "id": "MONDO:0014491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014491",
            "name": "immunodeficiency 37",
            "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene."
        },
        {
            "id": "MONDO:0014491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014491",
            "name": "BCL10 primary immunodeficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0014491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014491",
            "name": "combined immunodeficiency due to BCL10 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014491",
            "name": "immunodeficiency 37",
            "description": ""
        },
        {
            "id": "MONDO:0014491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014491",
            "name": "immunodeficiency type 37",
            "description": ""
        },
        {
            "id": "MONDO:0014491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014491",
            "name": "primary immunodeficiency disease caused by mutation in BCL10",
            "description": ""
        },
        {
            "id": "MONDO:0014491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014491",
            "name": "IMD37",
            "description": ""
        },
        {
            "id": "MIM:616098",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616098",
            "name": "Immunodeficiency 37",
            "description": "Immunodeficiency 37"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111939"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111939",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111939",
            "categories": []
        },
        {
            "id": "MONDO:0014491",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014491",
            "categories": []
        },
        {
            "id": "MIM:616098",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616098",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F8A6-1",
            "uniprot_ac": "E7F8A6",
            "uniprot_id": "E7F8A6_DANRE",
            "refseq_ac": "XP_002660738",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell lymphoma/leukemia 10",
                    "type": "recommended"
                },
                {
                    "name": "B-cell CLL/lymphoma 10",
                    "type": "synonym"
                },
                {
                    "name": "B-cell lymphoma/leukemia 10 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bcl10",
                    "type": "recommended"
                },
                {
                    "name": "bcl10",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F8A6-1",
            "evidence": [
                {
                    "id": "0111939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0H7-1",
            "uniprot_ac": "Q9Z0H7",
            "uniprot_id": "BCL10_MOUSE",
            "refseq_ac": "NP_033870",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell lymphoma/leukemia 10",
                    "type": "recommended"
                },
                {
                    "name": "B-cell CLL/lymphoma 10",
                    "type": "synonym"
                },
                {
                    "name": "B-cell lymphoma/leukemia 10",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-10",
                    "type": "synonym"
                },
                {
                    "name": "CARD-containing molecule enhancing NF-kappa-B",
                    "type": "synonym"
                },
                {
                    "name": "CARD-like apoptotic protein",
                    "type": "synonym"
                },
                {
                    "name": "CED-3/ICH-1 prodomain homologous E10-like regulator",
                    "type": "synonym"
                },
                {
                    "name": "Cellular homolog of vCARMEN",
                    "type": "synonym"
                },
                {
                    "name": "Cellular-E10",
                    "type": "synonym"
                },
                {
                    "name": "Mammalian CARD-containing adapter molecule E10",
                    "type": "synonym"
                },
                {
                    "name": "c-E10",
                    "type": "synonym"
                },
                {
                    "name": "cCARMEN",
                    "type": "synonym"
                },
                {
                    "name": "cellular homolog of vCARMEN",
                    "type": "synonym"
                },
                {
                    "name": "cellular-E10",
                    "type": "synonym"
                },
                {
                    "name": "mCIPER",
                    "type": "synonym"
                },
                {
                    "name": "mCLAP",
                    "type": "synonym"
                },
                {
                    "name": "mE10",
                    "type": "synonym"
                },
                {
                    "name": "mammalian CARD-containing adapter molecule E10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcl10",
                    "type": "recommended"
                },
                {
                    "name": "BCL-10",
                    "type": "synonym"
                },
                {
                    "name": "Bcl10",
                    "type": "synonym"
                },
                {
                    "name": "CARMEN",
                    "type": "synonym"
                },
                {
                    "name": "CIPER",
                    "type": "synonym"
                },
                {
                    "name": "CLAP",
                    "type": "synonym"
                },
                {
                    "name": "Ciper",
                    "type": "synonym"
                },
                {
                    "name": "Clap",
                    "type": "synonym"
                },
                {
                    "name": "ME10",
                    "type": "synonym"
                },
                {
                    "name": "cE10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0H7-1",
            "evidence": [
                {
                    "id": "0111939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95999-1",
            "uniprot_ac": "O95999",
            "uniprot_id": "BCL10_HUMAN",
            "refseq_ac": "NP_003912",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell lymphoma/leukemia 10",
                    "type": "recommended"
                },
                {
                    "name": "B cell CLL/lymphoma 10",
                    "type": "synonym"
                },
                {
                    "name": "B-cell CLL/lymphoma 10",
                    "type": "synonym"
                },
                {
                    "name": "B-cell lymphoma/leukemia 10 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "B-cell lymphoma/leukemia 10",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-10",
                    "type": "synonym"
                },
                {
                    "name": "CARD containing molecule enhancing NF-kB",
                    "type": "synonym"
                },
                {
                    "name": "CARD-containing apoptotic signaling protein",
                    "type": "synonym"
                },
                {
                    "name": "CARD-containing molecule enhancing NF-kappa-B",
                    "type": "synonym"
                },
                {
                    "name": "CARD-containing proapoptotic protein",
                    "type": "synonym"
                },
                {
                    "name": "CARD-like apoptotic protein",
                    "type": "synonym"
                },
                {
                    "name": "CED-3/ICH-1 prodomain homologous E10-like regulator",
                    "type": "synonym"
                },
                {
                    "name": "CIPER",
                    "type": "synonym"
                },
                {
                    "name": "Cellular homolog of vCARMEN",
                    "type": "synonym"
                },
                {
                    "name": "Cellular-E10",
                    "type": "synonym"
                },
                {
                    "name": "Mammalian CARD-containing adapter molecule E10",
                    "type": "synonym"
                },
                {
                    "name": "c-E10",
                    "type": "synonym"
                },
                {
                    "name": "cCARMEN",
                    "type": "synonym"
                },
                {
                    "name": "caspase-recruiting domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "cellular homolog of vCARMEN",
                    "type": "synonym"
                },
                {
                    "name": "cellular-E10",
                    "type": "synonym"
                },
                {
                    "name": "hCLAP",
                    "type": "synonym"
                },
                {
                    "name": "mE10",
                    "type": "synonym"
                },
                {
                    "name": "mammalian CARD-containing adapter molecule E10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCL10",
                    "type": "recommended"
                },
                {
                    "name": "BCL10",
                    "type": "synonym"
                },
                {
                    "name": "CARMEN",
                    "type": "synonym"
                },
                {
                    "name": "CIPER",
                    "type": "synonym"
                },
                {
                    "name": "CLAP",
                    "type": "synonym"
                },
                {
                    "name": "IMD37",
                    "type": "synonym"
                },
                {
                    "name": "c-E10",
                    "type": "synonym"
                },
                {
                    "name": "mE10",
                    "type": "synonym"
                }
            ],
            "record_id": "O95999-1",
            "evidence": [
                {
                    "id": "616098",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616098"
                },
                {
                    "id": "0111939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYN5-1",
            "uniprot_ac": "Q9QYN5",
            "uniprot_id": "BCL10_RAT",
            "refseq_ac": "NP_112618",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell lymphoma/leukemia 10",
                    "type": "recommended"
                },
                {
                    "name": "B-cell CLL/lymphoma 10",
                    "type": "synonym"
                },
                {
                    "name": "B-cell leukemia/lymphoma 10",
                    "type": "synonym"
                },
                {
                    "name": "B-cell lymphoma/leukemia 10",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-10",
                    "type": "synonym"
                },
                {
                    "name": "R-RCD1",
                    "type": "synonym"
                },
                {
                    "name": "RCD",
                    "type": "synonym"
                },
                {
                    "name": "bcl-10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcl10",
                    "type": "recommended"
                },
                {
                    "name": "Bcl10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYN5-1",
            "evidence": [
                {
                    "id": "0111939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111939"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111939"
}