{
    "disease_id": "DOID:0111979",
    "recommended_name": {
        "id": "DOID:0111979",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111979",
        "name": "immunodeficiency 49",
        "description": "A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111979",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111979",
            "name": "severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0111979",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111979",
            "name": "IMD49",
            "description": ""
        },
        {
            "id": "DOID:0111979",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111979",
            "name": "SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0111979",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111979",
            "name": "severe combined immunodeficiency 49",
            "description": ""
        },
        {
            "id": "MONDO:0014981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "name": "immunodeficiency 49",
            "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene."
        },
        {
            "id": "MONDO:0014981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "name": "BCL11B primary immunodeficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0014981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "name": "IMD49",
            "description": ""
        },
        {
            "id": "MONDO:0014981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "name": "immunodeficiency 49; IMD49",
            "description": ""
        },
        {
            "id": "MONDO:0014981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "name": "immunodeficiency type 49",
            "description": ""
        },
        {
            "id": "MONDO:0014981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "name": "primary immunodeficiency disease caused by mutation in BCL11B",
            "description": ""
        },
        {
            "id": "MIM:617237",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617237",
            "name": "Immunodeficiency 49, severe combined",
            "description": "Immunodeficiency 49, severe combined"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111979"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111979",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111979",
            "categories": []
        },
        {
            "id": "MONDO:0014981",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014981",
            "categories": []
        },
        {
            "id": "MIM:617237",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617237",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QLP7-1",
            "uniprot_ac": "A0A2R8QLP7",
            "uniprot_id": "A0A2R8QLP7_DANRE",
            "refseq_ac": "XP_002667906",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-cell lymphoma/leukemia 11B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bcl11bb",
                    "type": "recommended"
                },
                {
                    "name": "bcl11bb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QLP7-1",
            "evidence": [
                {
                    "id": "0111979",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111979"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A2R8Q8A6-1",
            "uniprot_ac": "A0A2R8Q8A6",
            "uniprot_id": "A0A2R8Q8A6_DANRE",
            "refseq_ac": "NP_001315335",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "B cell CLL/lymphoma 11Ba",
                    "type": "synonym"
                },
                {
                    "name": "B-cell CLL/lymphoma 11Ba (zinc finger protein)",
                    "type": "synonym"
                },
                {
                    "name": "BAF chromatin remodeling complex subunit BCL11B a isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "BAF chromatin remodeling complex subunit BCL11B a",
                    "type": "synonym"
                },
                {
                    "name": "BCL11B, BAF complex component a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bcl11ba",
                    "type": "recommended"
                },
                {
                    "name": "bcl11b.1",
                    "type": "synonym"
                },
                {
                    "name": "bcl11ba",
                    "type": "synonym"
                },
                {
                    "name": "bcl11b",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-238i13.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj43a03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:165628",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8Q8A6-1",
            "evidence": [
                {
                    "id": "0111979",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111979"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99PV8-1",
            "uniprot_ac": "Q99PV8",
            "uniprot_id": "BC11B_MOUSE",
            "refseq_ac": "NP_001073352",
            "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 11B",
                    "type": "recommended"
                },
                {
                    "name": "B-cell CLL/lymphoma 11B",
                    "type": "synonym"
                },
                {
                    "name": "B-cell lymphoma/leukaemia 11B",
                    "type": "synonym"
                },
                {
                    "name": "B-cell lymphoma/leukemia 11B isoform a",
                    "type": "synonym"
                },
                {
                    "name": "B-cell lymphoma/leukemia 11B",
                    "type": "synonym"
                },
                {
                    "name": "BCL-11B",
                    "type": "synonym"
                },
                {
                    "name": "COUP-TF-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Radiation-induced tumor suppressor gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "mRit1",
                    "type": "synonym"
                },
                {
                    "name": "radiation-induced tumor suppressor gene 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcl11b",
                    "type": "recommended"
                },
                {
                    "name": "9130430L19Rik",
                    "type": "synonym"
                },
                {
                    "name": "B630002E05Rik",
                    "type": "synonym"
                },
                {
                    "name": "BCL-11B",
                    "type": "synonym"
                },
                {
                    "name": "Bcl11b",
                    "type": "synonym"
                },
                {
                    "name": "Ctip2",
                    "type": "synonym"
                },
                {
                    "name": "Rit1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99PV8-1",
            "evidence": [
                {
                    "id": "0111979",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111979"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C0K0-1",
            "uniprot_ac": "Q9C0K0",
            "uniprot_id": "BC11B_HUMAN",
            "refseq_ac": "NP_001269166",
            "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 11B",
                    "type": "recommended"
                },
                {
                    "name": "B cell CLL/lymphoma 11B",
                    "type": "synonym"
                },
                {
                    "name": "B-cell CLL/lymphoma 11B (zinc finger protein)",
                    "type": "synonym"
                },
                {
                    "name": "B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "B-cell CLL/lymphoma 11B",
                    "type": "synonym"
                },
                {
                    "name": "B-cell lymphoma/leukaemia 11B",
                    "type": "synonym"
                },
                {
                    "name": "B-cell lymphoma/leukemia 11B isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "B-cell lymphoma/leukemia 11B",
                    "type": "synonym"
                },
                {
                    "name": "BAF chromatin remodeling complex subunit BCL11B",
                    "type": "synonym"
                },
                {
                    "name": "BCL-11B",
                    "type": "synonym"
                },
                {
                    "name": "BCL11B, BAF complex component",
                    "type": "synonym"
                },
                {
                    "name": "BCL11B/TRDC fusion",
                    "type": "synonym"
                },
                {
                    "name": "COUP-TF-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Radiation-induced tumor suppressor gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "hRit1",
                    "type": "synonym"
                },
                {
                    "name": "radiation-induced tumor suppressor gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein hRit1 alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCL11B",
                    "type": "recommended"
                },
                {
                    "name": "ATL1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "ATL1-beta",
                    "type": "synonym"
                },
                {
                    "name": "ATL1-delta",
                    "type": "synonym"
                },
                {
                    "name": "ATL1-gamma",
                    "type": "synonym"
                },
                {
                    "name": "ATL1",
                    "type": "synonym"
                },
                {
                    "name": "BCL11B",
                    "type": "synonym"
                },
                {
                    "name": "CTIP-2",
                    "type": "synonym"
                },
                {
                    "name": "CTIP2",
                    "type": "synonym"
                },
                {
                    "name": "IDDFSTA",
                    "type": "synonym"
                },
                {
                    "name": "IMD49",
                    "type": "synonym"
                },
                {
                    "name": "RIT1",
                    "type": "synonym"
                },
                {
                    "name": "SMARCM2",
                    "type": "synonym"
                },
                {
                    "name": "ZNF856B",
                    "type": "synonym"
                },
                {
                    "name": "hRIT1-alpha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C0K0-1",
            "evidence": [
                {
                    "id": "617237",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617237"
                },
                {
                    "id": "0111979",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111979"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JVA1-1",
            "uniprot_ac": "A0A0G2JVA1",
            "uniprot_id": "A0A0G2JVA1_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": "BCL11 transcription factor B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcl11b",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2JVA1-1",
            "evidence": [
                {
                    "id": "0111979",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111979"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A499JF18-1",
            "uniprot_ac": "A0A499JF18",
            "uniprot_id": "A0A499JF18_DROME",
            "refseq_ac": "NP_001356899",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9650-PK",
                    "type": "synonym"
                },
                {
                    "name": "Chronophage, isoform K",
                    "type": "synonym"
                },
                {
                    "name": "Cph-PK",
                    "type": "synonym"
                },
                {
                    "name": "chronophage, isoform K",
                    "type": "synonym"
                },
                {
                    "name": "chronophage",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cph",
                    "type": "recommended"
                },
                {
                    "name": "Bcl11",
                    "type": "synonym"
                },
                {
                    "name": "CG9650",
                    "type": "synonym"
                },
                {
                    "name": "Cph",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9650",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9650",
                    "type": "synonym"
                },
                {
                    "name": "cph",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A499JF18-1",
            "evidence": [
                {
                    "id": "0111979",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111979"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111979"
}