{
    "disease_id": "DOID:0061087",
    "recommended_name": {
        "id": "DOID:0061087",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061087",
        "name": "immunodeficiency 121",
        "description": "A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22."
    },
    "synonyms": [
        {
            "id": "DOID:0061087",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061087",
            "name": "immunodeficiency 121 with autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0971001",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971001",
            "name": "immunodeficiency 121 with autoinflammation",
            "description": ""
        },
        {
            "id": "MIM:620807",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620807",
            "name": "Immunodeficiency 121 with autoinflammation",
            "description": "Immunodeficiency 121 with autoinflammation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061087"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061087",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061087",
            "categories": []
        },
        {
            "id": "MONDO:0971001",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0971001",
            "categories": []
        },
        {
            "id": "MIM:620807",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620807",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QR78-1",
            "uniprot_ac": "F1QR78",
            "uniprot_id": "F1QR78_DANRE",
            "refseq_ac": "NP_001002543",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "proteasome subunit beta 10",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "psmb10",
                    "type": "recommended"
                },
                {
                    "name": "beta2i",
                    "type": "synonym"
                },
                {
                    "name": "psmb10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92791",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QR78-1",
            "evidence": [
                {
                    "id": "0061087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061087"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35955-1",
            "uniprot_ac": "O35955",
            "uniprot_id": "PSB10_MOUSE",
            "refseq_ac": "NP_038668",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta type-10",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Low molecular mass protein 10",
                    "type": "synonym"
                },
                {
                    "name": "Macropain subunit MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex subunit MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-2i",
                    "type": "synonym"
                },
                {
                    "name": "low molecular mass protein 10",
                    "type": "synonym"
                },
                {
                    "name": "macropain subunit MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex subunit MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "prosome Mecl1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosomome, macropain) subunit, beta type 10",
                    "type": "synonym"
                },
                {
                    "name": "proteasome MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit MECL1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-10",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-2i",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmb10",
                    "type": "recommended"
                },
                {
                    "name": "Lmp10",
                    "type": "synonym"
                },
                {
                    "name": "Mecl-1",
                    "type": "synonym"
                },
                {
                    "name": "Mecl1",
                    "type": "synonym"
                },
                {
                    "name": "Psmb10",
                    "type": "synonym"
                }
            ],
            "record_id": "O35955-1",
            "evidence": [
                {
                    "id": "0061087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061087"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40306-1",
            "uniprot_ac": "P40306",
            "uniprot_id": "PSB10_HUMAN",
            "refseq_ac": "NP_002792",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta type-10",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Low molecular mass protein 10",
                    "type": "synonym"
                },
                {
                    "name": "Macropain subunit MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex subunit MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-2i",
                    "type": "synonym"
                },
                {
                    "name": "low molecular mass protein 10",
                    "type": "synonym"
                },
                {
                    "name": "macropain subunit MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex subunit MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) subunit, beta type, 10",
                    "type": "synonym"
                },
                {
                    "name": "proteasome MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome catalytic subunit 2i",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit MECL1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 10",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 7i",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-10",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-2i",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta2i",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSMB10",
                    "type": "recommended"
                },
                {
                    "name": "IMD121",
                    "type": "synonym"
                },
                {
                    "name": "LMP10",
                    "type": "synonym"
                },
                {
                    "name": "MECL1",
                    "type": "synonym"
                },
                {
                    "name": "PRAAS5",
                    "type": "synonym"
                },
                {
                    "name": "PSMB10",
                    "type": "synonym"
                },
                {
                    "name": "beta2i",
                    "type": "synonym"
                }
            ],
            "record_id": "P40306-1",
            "evidence": [
                {
                    "id": "620807",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620807"
                },
                {
                    "id": "0061087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061087"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25043-1",
            "uniprot_ac": "P25043",
            "uniprot_id": "PSB2_YEAST",
            "refseq_ac": "NP_014800",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta type-2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Macropain subunit PUP1",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex subunit PUP1",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome component PUP1",
                    "type": "synonym"
                },
                {
                    "name": "Proteinase YSCE subunit PUP1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome core particle subunit beta 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PUP1",
                    "type": "recommended"
                },
                {
                    "name": "PUP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P25043-1",
            "evidence": [
                {
                    "id": "0061087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061087"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KM35-1",
            "uniprot_ac": "Q4KM35",
            "uniprot_id": "PSB10_RAT",
            "refseq_ac": "NP_001020808",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta type-10",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Low molecular mass protein 10",
                    "type": "synonym"
                },
                {
                    "name": "Macropain subunit MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex subunit MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-2i",
                    "type": "synonym"
                },
                {
                    "name": "low molecular mass protein 10",
                    "type": "synonym"
                },
                {
                    "name": "macropain subunit MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex subunit MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) subunit, beta type 10",
                    "type": "synonym"
                },
                {
                    "name": "proteasome MECl-1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 10",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-10",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-2i",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctrl",
                    "type": "recommended"
                },
                {
                    "name": "Psmb10",
                    "type": "recommended"
                },
                {
                    "name": "Ctrl",
                    "type": "synonym"
                },
                {
                    "name": "Lmp10",
                    "type": "synonym"
                },
                {
                    "name": "Mecl1",
                    "type": "synonym"
                },
                {
                    "name": "Psmb10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KM35-1",
            "evidence": [
                {
                    "id": "0061087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061087"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUJ1-1",
            "uniprot_ac": "Q9VUJ1",
            "uniprot_id": "Q9VUJ1_DROME",
            "refseq_ac": "NP_524076",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "20s proteasome",
                    "type": "synonym"
                },
                {
                    "name": "CG3329-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta2-PA",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-1E6",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-1G6",
                    "type": "synonym"
                },
                {
                    "name": "b2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "beta2 proteosome subunit",
                    "type": "synonym"
                },
                {
                    "name": "beta2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prosbeta2",
                    "type": "recommended"
                },
                {
                    "name": "3329",
                    "type": "synonym"
                },
                {
                    "name": "B[[2]]",
                    "type": "synonym"
                },
                {
                    "name": "Beta 2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Beta-2",
                    "type": "synonym"
                },
                {
                    "name": "CG3329",
                    "type": "synonym"
                },
                {
                    "name": "DTS-7",
                    "type": "synonym"
                },
                {
                    "name": "DTS57",
                    "type": "synonym"
                },
                {
                    "name": "DTS7",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3329",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3329",
                    "type": "synonym"
                },
                {
                    "name": "Dts7",
                    "type": "synonym"
                },
                {
                    "name": "PROSbeta2",
                    "type": "synonym"
                },
                {
                    "name": "Pros-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "ProsBeta2",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta 2",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta2",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe1E6",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe1G6",
                    "type": "synonym"
                },
                {
                    "name": "b2",
                    "type": "synonym"
                },
                {
                    "name": "beta 2",
                    "type": "synonym"
                },
                {
                    "name": "beta-2",
                    "type": "synonym"
                },
                {
                    "name": "beta2_dm",
                    "type": "synonym"
                },
                {
                    "name": "beta2",
                    "type": "synonym"
                },
                {
                    "name": "l(3)DTS7",
                    "type": "synonym"
                },
                {
                    "name": "prosbeta2",
                    "type": "synonym"
                },
                {
                    "name": "prosbeta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUJ1-1",
            "evidence": [
                {
                    "id": "0061087",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061087"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061087"
}