{
    "disease_id": "DOID:0050168",
    "recommended_name": {
        "id": "DOID:0050168",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050168",
        "name": "autoimmune polyendocrine syndrome type 2",
        "description": "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050168",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050168",
            "name": "Schmidt syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "autoimmune polyendocrinopathy type 2",
            "description": "Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis."
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "APS type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "APS2",
            "description": ""
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "Autoimmune Polyendocrine Syndrome Type II",
            "description": ""
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "Schmidt syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "autoimmune polyendocrine syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "autoimmune polyglandular syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "Schmidt's syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "autoimmune polyendocrine syndrome, type II",
            "description": ""
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "diabetes mellitus, Addison's disease, myxedema",
            "description": ""
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "multiple endocrine deficiency syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010012",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "name": "polyglandular deficiency syndrome type 2",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050168"
    ],
    "unlinked_id_list": [],
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            "id": "DOID:0050168",
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            "url": "https://disease-ontology.org/term/DOID:0050168",
            "categories": []
        },
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            "id": "MONDO:0010012",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010012",
            "categories": []
        }
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                    "name": "mhc2dbb",
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                    "id": "0050168",
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                    "id": "0050168",
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                    "name": "E2 receptor alpha",
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                    "name": "estrogen nuclear receptor alpha",
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                {
                    "name": "HLA class II histocompatibility antigen, DQ alpha 1 chain",
                    "type": "recommended"
                },
                {
                    "name": "DC-1 alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "DC-alpha",
                    "type": "synonym"
                },
                {
                    "name": "HLA class II histocompatibility antigen DQ alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "HLA class II histocompatibility antigen, DQ alpha 1 chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "HLA class II histocompatibility antigen, DQ alpha 1 chain",
                    "type": "synonym"
                },
                {
                    "name": "HLA-DCA",
                    "type": "synonym"
                },
                {
                    "name": "MHC HLA-DQ alpha",
                    "type": "synonym"
                },
                {
                    "name": "MHC class II DQ alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "MHC class II DQA1",
                    "type": "synonym"
                },
                {
                    "name": "MHC class II HLA-DQ-alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "MHC class II antigen DQA1",
                    "type": "synonym"
                },
                {
                    "name": "MHC class II protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HLA-DQA1",
                    "type": "recommended"
                },
                {
                    "name": "CELIAC1",
                    "type": "synonym"
                },
                {
                    "name": "DQ-A1",
                    "type": "synonym"
                },
                {
                    "name": "DQA1",
                    "type": "synonym"
                },
                {
                    "name": "HLA-DQA1*",
                    "type": "synonym"
                },
                {
                    "name": "HLA-DQA1",
                    "type": "synonym"
                },
                {
                    "name": "HLA-DQA",
                    "type": "synonym"
                }
            ],
            "record_id": "P01909-1",
            "evidence": [
                {
                    "id": "0050168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01911-1",
            "uniprot_ac": "P01911",
            "uniprot_id": "DRB1_HUMAN",
            "refseq_ac": "NP_001230894",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "HLA class II histocompatibility antigen, DRB1 beta chain",
                    "type": "recommended"
                },
                {
                    "name": "HLA class II histocompatibility antigen, DR-1 beta chain",
                    "type": "synonym"
                },
                {
                    "name": "HLA-DRB1",
                    "type": "synonym"
                },
                {
                    "name": "Human leukocyte antigen DRB1",
                    "type": "synonym"
                },
                {
                    "name": "MHC class II HLA-DR beta 1 chain",
                    "type": "synonym"
                },
                {
                    "name": "human leucocyte antigen DRB1",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte antigen DRB1",
                    "type": "synonym"
                },
                {
                    "name": "major histocompatibility complex, class II, DR beta 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HLA-DRB1",
                    "type": "recommended"
                },
                {
                    "name": "DRB1",
                    "type": "synonym"
                },
                {
                    "name": "HLA-DR1B",
                    "type": "synonym"
                },
                {
                    "name": "HLA-DRB1",
                    "type": "synonym"
                },
                {
                    "name": "HLA-DRB",
                    "type": "synonym"
                },
                {
                    "name": "SS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P01911-1",
            "evidence": [
                {
                    "id": "0050168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050168"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050168"
}
