{
    "disease_id": "DOID:0060010",
    "recommended_name": {
        "id": "DOID:0060010",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060010",
        "name": "Omenn syndrome",
        "description": "A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly."
    },
    "synonyms": [
        {
            "id": "DOID:0060010",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060010",
            "name": "combined immunodeficiency with hypereosinophilia",
            "description": ""
        },
        {
            "id": "MONDO:0011338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011338",
            "name": "Omenn syndrome",
            "description": "An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID)."
        },
        {
            "id": "MONDO:0011338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011338",
            "name": "Omenn syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011338",
            "name": "combined immunodeficiency with hypereosinophilia",
            "description": ""
        },
        {
            "id": "MONDO:0011338",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011338",
            "name": "reticuloendotheliosis familial with eosinophilia",
            "description": ""
        },
        {
            "id": "MIM:603554",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603554",
            "name": "Omenn syndrome",
            "description": "Omenn syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060010"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060010",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060010",
            "categories": []
        },
        {
            "id": "MONDO:0011338",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011338",
            "categories": []
        },
        {
            "id": "MIM:603554",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603554",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RGE5-1",
            "uniprot_ac": "Q5RGE5",
            "uniprot_id": "DCR1C_DANRE",
            "refseq_ac": "NP_001038566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein artemis",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1C protein",
                    "type": "synonym"
                },
                {
                    "name": "protein artemis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dclre1c",
                    "type": "recommended"
                },
                {
                    "name": "dclre1c",
                    "type": "synonym"
                },
                {
                    "name": "im:7141637",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-153k10.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136877",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RGE5-1",
            "evidence": [
                {
                    "id": "0060010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O13034-1",
            "uniprot_ac": "O13034",
            "uniprot_id": "RAG2_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "V(D)J recombination-activating protein 2",
                    "type": "recommended"
                },
                {
                    "name": "RAG-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rag2",
                    "type": "recommended"
                },
                {
                    "name": "rag-2",
                    "type": "synonym"
                }
            ],
            "record_id": "O13034-1",
            "evidence": [
                {
                    "id": "0060010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O13033-1",
            "uniprot_ac": "O13033",
            "uniprot_id": "RAG1_DANRE",
            "refseq_ac": "NP_571464",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "V(D)J recombination-activating protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RAG-1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RAG1",
                    "type": "synonym"
                },
                {
                    "name": "V(D)J recombination-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "etID309719.25",
                    "type": "synonym"
                },
                {
                    "name": "recombinase",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating gene 1",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rag1",
                    "type": "recommended"
                },
                {
                    "name": "RAG-1",
                    "type": "synonym"
                },
                {
                    "name": "rag1",
                    "type": "synonym"
                }
            ],
            "record_id": "O13033-1",
            "evidence": [
                {
                    "id": "0060010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060010"
                }
            ]
        },
        {
            "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": "0060010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1LWY1-1",
            "uniprot_ac": "Q1LWY1",
            "uniprot_id": "Q1LWY1_DANRE",
            "refseq_ac": "NP_571752",
            "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": "macropain",
                    "type": "synonym"
                },
                {
                    "name": "prosome",
                    "type": "synonym"
                },
                {
                    "name": "proteasome 20S subunit beta 13a",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 13a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "psmb13a",
                    "type": "recommended"
                },
                {
                    "name": "beta2ta",
                    "type": "synonym"
                },
                {
                    "name": "psmb10",
                    "type": "synonym"
                },
                {
                    "name": "psmb12",
                    "type": "synonym"
                },
                {
                    "name": "psmb13a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110363",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LWY1-1",
            "evidence": [
                {
                    "id": "0060010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15919-1",
            "uniprot_ac": "P15919",
            "uniprot_id": "RAG1_MOUSE",
            "refseq_ac": "NP_033045",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "V(D)J recombination-activating protein 1",
                    "type": "recommended"
                },
                {
                    "name": "RAG-1",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RAG1",
                    "type": "synonym"
                },
                {
                    "name": "V(D)J recombination-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "recombinase activating gene 1",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating gene 1",
                    "type": "synonym"
                },
                {
                    "name": "recombination activating protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rag1",
                    "type": "recommended"
                },
                {
                    "name": "Rag-1",
                    "type": "synonym"
                },
                {
                    "name": "Rag1",
                    "type": "synonym"
                }
            ],
            "record_id": "P15919-1",
            "evidence": [
                {
                    "id": "0060010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21784-1",
            "uniprot_ac": "P21784",
            "uniprot_id": "RAG2_MOUSE",
            "refseq_ac": "NP_033046",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "V(D)J recombination-activating protein 2",
                    "type": "recommended"
                },
                {
                    "name": "RAG-2",
                    "type": "synonym"
                },
                {
                    "name": "V(D)J recombination-activating protein 2",
                    "type": "synonym"
                },
                {
                    "name": "recombinase activating gene 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rag2",
                    "type": "recommended"
                },
                {
                    "name": "Rag-2",
                    "type": "synonym"
                },
                {
                    "name": "Rag2",
                    "type": "synonym"
                }
            ],
            "record_id": "P21784-1",
            "evidence": [
                {
                    "id": "0060010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K4J0-1",
            "uniprot_ac": "Q8K4J0",
            "uniprot_id": "DCR1C_MOUSE",
            "refseq_ac": "NP_001103684",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein artemis",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1A, PSO2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1C protein",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1C, PSO2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "SNM1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mArt",
                    "type": "synonym"
                },
                {
                    "name": "protein artemis isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "protein artemis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dclre1c",
                    "type": "recommended"
                },
                {
                    "name": "9930121L06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Art",
                    "type": "synonym"
                },
                {
                    "name": "Dclre1c",
                    "type": "synonym"
                },
                {
                    "name": "Snm1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4J0-1",
            "evidence": [
                {
                    "id": "0060010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70195-1",
            "uniprot_ac": "P70195",
            "uniprot_id": "PSB7_MOUSE",
            "refseq_ac": "NP_035317",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta type-7",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Macropain chain Z",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex chain Z",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit Z",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "beta-2",
                    "type": "synonym"
                },
                {
                    "name": "macropain chain Z",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex chain Z",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit Z",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-7 precursor",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-7",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmb7",
                    "type": "recommended"
                },
                {
                    "name": "MC14",
                    "type": "synonym"
                },
                {
                    "name": "Mmc14",
                    "type": "synonym"
                },
                {
                    "name": "Psmb7",
                    "type": "synonym"
                }
            ],
            "record_id": "P70195-1",
            "evidence": [
                {
                    "id": "0060010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060010"
                }
            ]
        },
        {
            "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": "0060010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96SD1-1",
            "uniprot_ac": "Q96SD1",
            "uniprot_id": "DCR1C_HUMAN",
            "refseq_ac": "NP_001029027",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein artemis",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)",
                    "type": "synonym"
                },
                {
                    "name": "DNA cross-link repair 1C protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein A-SCID",
                    "type": "synonym"
                },
                {
                    "name": "SNM1 homolog C",
                    "type": "synonym"
                },
                {
                    "name": "SNM1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "hSNM1C",
                    "type": "synonym"
                },
                {
                    "name": "protein artemis isoform a",
                    "type": "synonym"
                },
                {
                    "name": "protein artemis",
                    "type": "synonym"
                },
                {
                    "name": "severe combined immunodeficiency, type a (Athabascan)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCLRE1C",
                    "type": "recommended"
                },
                {
                    "name": "A-SCID",
                    "type": "synonym"
                },
                {
                    "name": "ARTEMIS",
                    "type": "synonym"
                },
                {
                    "name": "ASCID",
                    "type": "synonym"
                },
                {
                    "name": "DCLRE1C",
                    "type": "synonym"
                },
                {
                    "name": "DCLREC1C",
                    "type": "synonym"
                },
                {
                    "name": "RS-SCID",
                    "type": "synonym"
                },
                {
                    "name": "SCIDA",
                    "type": "synonym"
                },
                {
                    "name": "SNM1C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96SD1-1",
            "evidence": [
                {
                    "id": "603554",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603554"
                },
                {
                    "id": "0060010",
                    "database": "AGR",
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                    "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": "0060010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99436-1",
            "uniprot_ac": "Q99436",
            "uniprot_id": "PSB7_HUMAN",
            "refseq_ac": "NP_002790",
            "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-7",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Macropain chain Z",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex chain Z",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit Z",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "beta-2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "macropain chain Z",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex chain Z",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) subunit, beta type, 7",
                    "type": "synonym"
                },
                {
                    "name": "proteasome catalytic subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit Z",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 7",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-7 precursor",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-7",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta2",
                    "type": "synonym"
                },
                {
                    "name": "protein serine kinase c17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSMB7",
                    "type": "recommended"
                },
                {
                    "name": "PSMB7",
                    "type": "synonym"
                },
                {
                    "name": "Z",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99436-1",
            "evidence": [
                {
                    "id": "0060010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060010"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060010"
}