{
    "disease_id": "DOID:0111997",
    "recommended_name": {
        "id": "DOID:0111997",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111997",
        "name": "immunodeficiency 63",
        "description": "A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111997",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111997",
            "name": "immunodeficiency 63 with lymphoproliferation and autoimmunity",
            "description": ""
        },
        {
            "id": "DOID:0111997",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111997",
            "name": "IL2RB deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111997",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111997",
            "name": "IMD63",
            "description": ""
        },
        {
            "id": "MONDO:0032782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032782",
            "name": "immunodeficiency 63 with lymphoproliferation and autoimmunity",
            "description": ""
        },
        {
            "id": "MONDO:0032782",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032782",
            "name": "IMD63",
            "description": ""
        },
        {
            "id": "MIM:618495",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618495",
            "name": "Immunodeficiency 63 with lymphoproliferation and autoimmunity",
            "description": "Immunodeficiency 63 with lymphoproliferation and autoimmunity"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111997"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111997",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111997",
            "categories": []
        },
        {
            "id": "MONDO:0032782",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032782",
            "categories": []
        },
        {
            "id": "MIM:618495",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618495",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BIX1-1",
            "uniprot_ac": "A0A8M2BIX1",
            "uniprot_id": "A0A8M2BIX1_DANRE",
            "refseq_ac": "XP_005171649",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-2 receptor subunit beta isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2 receptor subunit beta isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "il2rb",
                    "type": "recommended"
                },
                {
                    "name": "il-2rb",
                    "type": "synonym"
                },
                {
                    "name": "il2rb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BIX1-1",
            "evidence": [
                {
                    "id": "0111997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16297-1",
            "uniprot_ac": "P16297",
            "uniprot_id": "IL2RB_MOUSE",
            "refseq_ac": "NP_032394",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-2 receptor subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "High affinity IL-2 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-15 receptor beta chain",
                    "type": "synonym"
                },
                {
                    "name": "IL-2 receptor beta chain",
                    "type": "synonym"
                },
                {
                    "name": "IL-2 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-2/15 receptor-beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-2R subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-2RB",
                    "type": "synonym"
                },
                {
                    "name": "high affinity IL-2 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2 receptor subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "p70-75",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il2rb",
                    "type": "recommended"
                },
                {
                    "name": "CD122",
                    "type": "synonym"
                },
                {
                    "name": "IL-15Rbeta",
                    "type": "synonym"
                },
                {
                    "name": "IL15Rbeta",
                    "type": "synonym"
                },
                {
                    "name": "Il-2/15Rbeta",
                    "type": "synonym"
                },
                {
                    "name": "Il-2Rbeta",
                    "type": "synonym"
                },
                {
                    "name": "Il2rb",
                    "type": "synonym"
                },
                {
                    "name": "p70",
                    "type": "synonym"
                }
            ],
            "record_id": "P16297-1",
            "evidence": [
                {
                    "id": "0111997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14784-1",
            "uniprot_ac": "P14784",
            "uniprot_id": "IL2RB_HUMAN",
            "refseq_ac": "NP_000869",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-2 receptor subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "CD122 antigen",
                    "type": "synonym"
                },
                {
                    "name": "High affinity IL-2 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-2 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-2R subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-2RB",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-15 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "high affinity IL-2 receptor beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "high affinity IL-2 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 15 receptor, beta",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 2 receptor, beta",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-15 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2 receptor subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "p70-75",
                    "type": "synonym"
                },
                {
                    "name": "p75",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL2RB",
                    "type": "recommended"
                },
                {
                    "name": "CD122",
                    "type": "synonym"
                },
                {
                    "name": "IL15RB",
                    "type": "synonym"
                },
                {
                    "name": "IL2RB",
                    "type": "synonym"
                },
                {
                    "name": "IMD63",
                    "type": "synonym"
                },
                {
                    "name": "P70-75",
                    "type": "synonym"
                }
            ],
            "record_id": "P14784-1",
            "evidence": [
                {
                    "id": "618495",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618495"
                },
                {
                    "id": "0111997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26896-1",
            "uniprot_ac": "P26896",
            "uniprot_id": "IL2RB_RAT",
            "refseq_ac": "NP_037327",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-2 receptor subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "High affinity IL-2 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-2 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-2R subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IL-2RB",
                    "type": "synonym"
                },
                {
                    "name": "P70-75",
                    "type": "synonym"
                },
                {
                    "name": "high affinity IL-2 receptor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 2 receptor, beta chain",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-2 receptor subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "p70-75",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il2rb",
                    "type": "recommended"
                },
                {
                    "name": "IL2RBC",
                    "type": "synonym"
                },
                {
                    "name": "Il2rb",
                    "type": "synonym"
                }
            ],
            "record_id": "P26896-1",
            "evidence": [
                {
                    "id": "0111997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111997"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10515-1",
            "uniprot_ac": "P10515",
            "uniprot_id": "ODP2_HUMAN",
            "refseq_ac": "NP_001922",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.12",
                    "type": "synonym"
                },
                {
                    "name": "70 kDa mitochondrial autoantigen of primary biliary cirrhosis",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "E2 component of pyruvate dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "M2 antigen complex 70 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "PBC",
                    "type": "synonym"
                },
                {
                    "name": "PDC-E2",
                    "type": "synonym"
                },
                {
                    "name": "PDCE2",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase complex component E2",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase complex component E2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLAT",
                    "type": "recommended"
                },
                {
                    "name": "DLAT",
                    "type": "synonym"
                },
                {
                    "name": "DLTA",
                    "type": "synonym"
                },
                {
                    "name": "E2",
                    "type": "synonym"
                },
                {
                    "name": "PBC",
                    "type": "synonym"
                },
                {
                    "name": "PDC-E2",
                    "type": "synonym"
                },
                {
                    "name": "PDCE2",
                    "type": "synonym"
                }
            ],
            "record_id": "P10515-1",
            "evidence": [
                {
                    "id": "0111997",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111997"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111997"
}