{
    "disease_id": "DOID:0060025",
    "recommended_name": {
        "id": "DOID:0060025",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060025",
        "name": "immunoglobulin alpha deficiency",
        "description": "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor."
    },
    "synonyms": [
        {
            "id": "DOID:0060025",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060025",
            "name": "IgA deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060025",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060025",
            "name": "gamma-A-globulin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007644",
            "name": "IgAD1",
            "description": "Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders."
        },
        {
            "id": "MONDO:0007644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007644",
            "name": "IGAD1",
            "description": ""
        },
        {
            "id": "MONDO:0007644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007644",
            "name": "IgAD1",
            "description": ""
        },
        {
            "id": "MONDO:0007644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007644",
            "name": "immunoglobulin A deficiency, autosomal recessive, autosomal dominant, isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0007644",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007644",
            "name": "IMMUNOGLOBULIN A deficiency 1",
            "description": ""
        },
        {
            "id": "MONDO:0010019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010019",
            "name": "secretory component deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010019",
            "name": "secretory component deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012291",
            "name": "immunoglobulin A deficiency 2",
            "description": "Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene."
        },
        {
            "id": "MONDO:0012291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012291",
            "name": "Immunoglobulin a deficiency type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012291",
            "name": "TNFRSF13B selective IgA deficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0012291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012291",
            "name": "immunoglobulin a deficiency 2",
            "description": ""
        },
        {
            "id": "MONDO:0012291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012291",
            "name": "selective IgA deficiency disease caused by mutation in TNFRSF13B",
            "description": ""
        },
        {
            "id": "MONDO:0012291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012291",
            "name": "IGAD2",
            "description": ""
        },
        {
            "id": "MONDO:0012291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012291",
            "name": "IgA, selective deficiency of, TACI related",
            "description": ""
        },
        {
            "id": "MONDO:0012291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012291",
            "name": "Immunoglobulin A, selective deficiency of, TACI related",
            "description": ""
        },
        {
            "id": "MIM:609529",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609529",
            "name": "Immunoglobulin A deficiency 2",
            "description": "Immunoglobulin A deficiency 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060025"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060025",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060025",
            "categories": []
        },
        {
            "id": "MONDO:0007644",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007644",
            "categories": []
        },
        {
            "id": "MONDO:0010019",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010019",
            "categories": []
        },
        {
            "id": "MONDO:0012291",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012291",
            "categories": []
        },
        {
            "id": "MIM:609529",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609529",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0A8M2B5P7",
            "uniprot_id": "A0A8M2B5P7_DANRE",
            "refseq_ac": "XP_005159251",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Major histocompatibility complex class II DBB isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "major histocompatibility complex class II DBB isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mhc2dbb",
                    "type": "recommended"
                },
                {
                    "name": "DBB",
                    "type": "synonym"
                },
                {
                    "name": "mhc2d18b",
                    "type": "synonym"
                },
                {
                    "name": "mhc2dbb",
                    "type": "synonym"
                },
                {
                    "name": "si:busm1-241h12.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dz241h12.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153067",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NAM7-1",
            "uniprot_ac": "A0A8M1NAM7",
            "uniprot_id": "A0A8M1NAM7_DANRE",
            "refseq_ac": "NP_001071221",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "MHC class II",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein LOC368846 precursor",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC368846 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mhc2d8.45b1",
                    "type": "recommended"
                },
                {
                    "name": "mhc2d8.45b1",
                    "type": "synonym"
                },
                {
                    "name": "si:busm1-228j01.6",
                    "type": "synonym"
                },
                {
                    "name": "si:dz228j01.6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NAM7-1",
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                {
                    "id": "0060025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09793-1",
            "uniprot_ac": "P09793",
            "uniprot_id": "CTLA4_MOUSE",
            "refseq_ac": "NP_033973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytotoxic T-lymphocyte protein 4",
                    "type": "recommended"
                },
                {
                    "name": "CD152 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CTLA-4",
                    "type": "synonym"
                },
                {
                    "name": "Cytotoxic T-lymphocyte-associated antigen 4",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic T-lymphocyte protein 4 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic T-lymphocyte protein 4",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic T-lymphocyte-associated antigen 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctla4",
                    "type": "recommended"
                },
                {
                    "name": "Cd152",
                    "type": "synonym"
                },
                {
                    "name": "Ctla-4",
                    "type": "synonym"
                },
                {
                    "name": "Ctla4",
                    "type": "synonym"
                },
                {
                    "name": "Ly-56",
                    "type": "synonym"
                }
            ],
            "record_id": "P09793-1",
            "evidence": [
                {
                    "id": "0060025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVS0-1",
            "uniprot_ac": "Q9WVS0",
            "uniprot_id": "ICOS_MOUSE",
            "refseq_ac": "NP_059508",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inducible T-cell costimulator",
                    "type": "recommended"
                },
                {
                    "name": "Activation-inducible lymphocyte immunomediatory molecule",
                    "type": "synonym"
                },
                {
                    "name": "CCLP",
                    "type": "synonym"
                },
                {
                    "name": "CD28 and CTLA-4-like protein",
                    "type": "synonym"
                },
                {
                    "name": "CD28-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CRP-1",
                    "type": "synonym"
                },
                {
                    "name": "activation-inducible lymphocyte immunomediatory molecule",
                    "type": "synonym"
                },
                {
                    "name": "inducible T-cell costimulator precursor",
                    "type": "synonym"
                },
                {
                    "name": "inducible T-cell costimulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Icos",
                    "type": "recommended"
                },
                {
                    "name": "AILIM",
                    "type": "synonym"
                },
                {
                    "name": "Ailim",
                    "type": "synonym"
                },
                {
                    "name": "CCLP",
                    "type": "synonym"
                },
                {
                    "name": "CRP-1",
                    "type": "synonym"
                },
                {
                    "name": "H4",
                    "type": "synonym"
                },
                {
                    "name": "Icos",
                    "type": "synonym"
                },
                {
                    "name": "Ly115",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVS0-1",
            "evidence": [
                {
                    "id": "0060025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01921-1",
            "uniprot_ac": "P01921",
            "uniprot_id": "HB2D_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "H-2 class II histocompatibility antigen, A-D beta chain",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "H2-Ab1",
                    "type": "recommended"
                },
                {
                    "name": "H2-iabeta",
                    "type": "synonym"
                }
            ],
            "record_id": "P01921-1",
            "evidence": [
                {
                    "id": "0060025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14836-1",
            "uniprot_ac": "O14836",
            "uniprot_id": "TR13B_HUMAN",
            "refseq_ac": "NP_036584",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 13B",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane activator and CAML interactor",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane activator and CAML interactor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor 13B",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 13B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNFRSF13B",
                    "type": "recommended"
                },
                {
                    "name": "CD267",
                    "type": "synonym"
                },
                {
                    "name": "CVID2",
                    "type": "synonym"
                },
                {
                    "name": "CVID",
                    "type": "synonym"
                },
                {
                    "name": "IGAD2",
                    "type": "synonym"
                },
                {
                    "name": "RYZN",
                    "type": "synonym"
                },
                {
                    "name": "TACI",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF13B",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF14B",
                    "type": "synonym"
                }
            ],
            "record_id": "O14836-1",
            "evidence": [
                {
                    "id": "609529",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609529"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MJE4-1",
            "uniprot_ac": "A0A096MJE4",
            "uniprot_id": "A0A096MJE4_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": "Cytotoxic T-lymphocyte protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Cytotoxic T-lymphocyte-associated antigen 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ctla4",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A096MJE4-1",
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                {
                    "id": "0060025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1T7-1",
            "uniprot_ac": "Q9R1T7",
            "uniprot_id": "ICOS_RAT",
            "refseq_ac": "NP_072132",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Inducible T-cell costimulator",
                    "type": "recommended"
                },
                {
                    "name": "Activation-inducible lymphocyte immunomediatory molecule",
                    "type": "synonym"
                },
                {
                    "name": "activation-inducible lymphocyte immunomediatory molecule",
                    "type": "synonym"
                },
                {
                    "name": "inducible T-cell costimulator isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "inducible T-cell costimulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Icos",
                    "type": "recommended"
                },
                {
                    "name": "Ailim",
                    "type": "synonym"
                },
                {
                    "name": "Icos",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1T7-1",
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                {
                    "id": "0060025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29826-1",
            "uniprot_ac": "P29826",
            "uniprot_id": "HB2B_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rano class II histocompatibility antigen, B-1 beta chain",
                    "type": "recommended"
                },
                {
                    "name": "RT1 class II histocompatibility antigen, B-1 beta chain",
                    "type": "synonym"
                },
                {
                    "name": "RT1.B-beta(1)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RT1-Bb",
                    "type": "recommended"
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            "record_id": "P29826-1",
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                    "id": "0060025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06341-1",
            "uniprot_ac": "P06341",
            "uniprot_id": "HB2A_RAT",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rano class II histocompatibility antigen, A beta chain",
                    "type": "recommended"
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                {
                    "name": "RT1 class II histocompatibility antigen, A beta chain",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "RT1-B",
                    "type": "recommended"
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            ],
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                {
                    "id": "0060025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62696-1",
            "uniprot_ac": "Q62696",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disks large homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "Drosophila discs-large tumor suppressor homologue (synapse associated protein)",
                    "type": "synonym"
                },
                {
                    "name": "SAP-97",
                    "type": "synonym"
                },
                {
                    "name": "SAP97",
                    "type": "synonym"
                },
                {
                    "name": "Synapse-associated protein 97",
                    "type": "synonym"
                },
                {
                    "name": "discs large homolog 1, scribble cell polarity complex component",
                    "type": "synonym"
                },
                {
                    "name": "discs, large homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "disks large homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "synapse-associated protein 97",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dlg1",
                    "type": "recommended"
                },
                {
                    "name": "Dlg1",
                    "type": "synonym"
                },
                {
                    "name": "Dlgh1",
                    "type": "synonym"
                },
                {
                    "name": "SAP97",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060025",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060025"
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                    "name": "E2 receptor alpha",
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                {
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                {
                    "name": "Nuclear receptor subfamily 3 group A member 1",
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                {
                    "name": "estradiol receptor",
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                },
                {
                    "name": "estrogen nuclear receptor alpha",
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                {
                    "name": "estrogen receptor alpha E1-E2-1-2",
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                {
                    "name": "estrogen receptor alpha E1-N2-E2-1-2",
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                },
                {
                    "name": "estrogen receptor isoform 1",
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                {
                    "name": "nuclear receptor subfamily 3 group A member 1",
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                {
                    "name": "oestrogen receptor alpha",
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                    "name": "ESR1",
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                {
                    "name": "ESR1",
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                    "name": "ESRA",
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                {
                    "name": "ESR",
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                {
                    "name": "ESTRR",
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                {
                    "name": "Era",
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                {
                    "name": "NR3A1",
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                    "name": "HLA class II histocompatibility antigen, DQ beta 1 chain",
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                {
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                {
                    "name": "MHC class II DQ beta chain",
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                {
                    "name": "MHC class II HLA-DQ beta glycoprotein",
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                {
                    "name": "MHC class II antigen DQB1",
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                {
                    "name": "MHC class II antigen HLA-DQ-beta-1",
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                {
                    "name": "HLA-DQB1",
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                    "name": "HLA-DQB",
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                    "name": "IDDM1",
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                    "id": "0060025",
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                    "name": "Inducible T-cell costimulator",
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                    "name": "Activation-inducible lymphocyte immunomediatory molecule",
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                {
                    "name": "activation-inducible lymphocyte immunomediatory molecule",
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                    "name": "inducible T-cell co-stimulator",
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                    "name": "CD278",
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                {
                    "name": "CVID1",
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                    "name": "Cytotoxic T-lymphocyte-associated antigen 4",
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                {
                    "name": "cytotoxic T lymphocyte associated antigen 4 short spliced form",
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                {
                    "name": "cytotoxic T-lymphocyte protein 4 isoform CTLA-4delTM precursor",
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                {
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                    "name": "gluten-sensitive enteropathy",
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                {
                    "name": "insulin-dependent diabetes mellitus 12",
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                {
                    "name": "ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4",
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                    "name": "CD",
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                    "name": "CELIAC3",
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                {
                    "name": "CTLA-4",
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                {
                    "name": "CTLA4",
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                {
                    "name": "GRD4",
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                {
                    "name": "IDDM12",
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                    "id": "0060025",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060025"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060025"
}