{ "disease_id": "DOID:0050168", "recommended_name": { "id": "DOID:0050168", "resource": "Disease Ontology", "url": "http://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": "http://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": "APS 2", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "PGA 2", "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 disease, myxedema", "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": "polyendocrine autoimmune syndrome, type 2", "description": "" }, { "id": "MONDO:0010012", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "name": "polyglandular autoimmune 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": [], "crossref": [ { "id": "DOID:0050168", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050168", "categories": [] }, { "id": "MONDO:0010012", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010012", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "P04230-1", "uniprot_ac": "P04230", "uniprot_id": "HB21_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, E-B beta chain", "resource": "UniProtKB", "type": "recommended" } ], "gene_names": [ { "name": "H2-Eb1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Btnl2", "resource": "UniProtKB", "type": "synonym" }, { "name": "IEbeta", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050168" } ] }, { "uniprot_canonical_ac": "Q3UUV9-1", "uniprot_ac": "Q3UUV9", "uniprot_id": "Q3UUV9_MOUSE", "refseq_ac": "NP_001029150", "glycoprotein": "no", "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 E-a/k beta-2; MHC class II E-beta-2; MHC class II antigen E beta2; MHC class II antigen beta chain", "resource": "RefSeq", "type": "synonym" }, { "name": "Histocompatibility 2, class II antigen E beta2", "resource": "UniProtKB", "type": "synonym" }, { "name": "histocompatibility 2, class II antigen E beta2 precursor", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "H2-Eb2", "resource": "UniProtKB", "type": "recommended" }, { "name": "A130038H09Rik; H-2Eb2; Ia-5; Ia5; Iebeta2", "resource": "RefSeq", "type": "synonym" }, { "name": "CR974457.1-001", "resource": "UniProtKB", "type": "synonym" }, { "name": "H2-Eb2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050168" } ] }, { "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", "resource": "UniProtKB", "type": "recommended" } ], "gene_names": [ { "name": "H2-Ab1", "resource": "UniProtKB", "type": "recommended" }, { "name": "H2-iabeta", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050168" } ] }, { "uniprot_canonical_ac": "P01910-1", "uniprot_ac": "P01910", "uniprot_id": "HA2K_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-K alpha chain", "resource": "UniProtKB", "type": "recommended" } ], "gene_names": [ { "name": "H2-Aa", "resource": "UniProtKB", "type": "recommended" } ], "evidence": [ { "id": "0050168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050168" } ] }, { "uniprot_canonical_ac": "P03372-1", "uniprot_ac": "P03372", "uniprot_id": "ESR1_HUMAN", "refseq_ac": "NP_000116", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Estrogen receptor", "resource": "UniProtKB", "type": "recommended" }, { "name": "ER-alpha; estradiol receptor; nuclear receptor subfamily 3 group A member 1; estrogen nuclear receptor alpha; estrogen receptor alpha E1-E2-1-2; estrogen receptor alpha E1-N2-E2-1-2; oestrogen receptor alpha; E2 receptor alpha", "resource": "RefSeq", "type": "synonym" }, { "name": "ER-alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "ER", "resource": "UniProtKB", "type": "synonym" }, { "name": "Estradiol receptor", "resource": "UniProtKB", "type": "synonym" }, { "name": "Nuclear receptor subfamily 3 group A member 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "estrogen receptor isoform 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "ESR1", "resource": "UniProtKB", "type": "recommended" }, { "name": "ER; Era; ESR; ESRA; ESTRR; NR3A1", "resource": "RefSeq", "type": "synonym" }, { "name": "ESR1", "resource": "RefSeq", "type": "synonym" }, { "name": "ESR", "resource": "UniProtKB", "type": "synonym" }, { "name": "NR3A1", "resource": "UniProtKB", "type": "synonym" }, { "name": "estrogen receptor", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050168" } ] }, { "uniprot_canonical_ac": "P01909-1", "uniprot_ac": "P01909", "uniprot_id": "DQA1_HUMAN", "refseq_ac": "NP_002113", "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, DQ alpha 1 chain", "resource": "UniProtKB", "type": "recommended" }, { "name": "DC-1 alpha chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "DC-alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "HLA class II histocompatibility antigen, DQ alpha 1 chain precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "HLA class II histocompatibility antigen, DQ alpha 1 chain; MHC HLA-DQ alpha; MHC class II HLA-DQ-alpha-1; MHC class II DQ alpha chain; MHC class II DQA1; HLA-DCA; DC-alpha; DC-1 alpha chain; MHC class II antigen DQA1; MHC class II protein; HLA class II histocompatibility antigen DQ alpha chain", "resource": "RefSeq", "type": "synonym" }, { "name": "HLA-DCA", "resource": "UniProtKB", "type": "synonym" }, { "name": "MHC class II DQA1", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "HLA-DQA1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CELIAC1; DQ-A1; DQA1; HLA-DQA; HLA-DQA1*; HLA-DQB1", "resource": "RefSeq", "type": "synonym" }, { "name": "DQA1", "resource": "UniProtKB", "type": "synonym" }, { "name": "HLA-DQA1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0050168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050168" } ] }, { "uniprot_canonical_ac": "P01920-1", "uniprot_ac": "P01920", "uniprot_id": "DQB1_HUMAN", "refseq_ac": "NP_001230891", "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, DQ beta 1 chain", "resource": "UniProtKB", "type": "recommended" }, { "name": "HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "HLA class II histocompatibility antigen, DQ beta 1 chain; MHC class II DQ beta chain; MHC class II antigen DQB1; MHC class II HLA-DQ beta glycoprotein; MHC class II antigen HLA-DQ-beta-1", "resource": "RefSeq", "type": "synonym" }, { "name": "MHC class II antigen DQB1", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "HLA-DQB1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CELIAC1; HLA-DQB; IDDM1", "resource": "RefSeq", "type": "synonym" }, { "name": "HLA-DQB1", "resource": "RefSeq", "type": "synonym" }, { "name": "HLA-DQB", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050168", "database": "Alliance of Genome Resources", "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", "resource": "UniProtKB", "type": "recommended" }, { "name": "HLA class II histocompatibility antigen, DR-1 beta chain; lymphocyte antigen DRB1; MHC class II HLA-DR beta 1 chain; human leucocyte antigen DRB1", "resource": "RefSeq", "type": "synonym" }, { "name": "HLA-DRB1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Human leukocyte antigen DRB1", "resource": "UniProtKB", "type": "synonym" }, { "name": "major histocompatibility complex, class II, DR beta 1 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"synonym" }, { "name": "DAB", "resource": "UniProtKB", "type": "synonym" }, { "name": "DKEYP-2H4.1-001", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab1*01", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab101", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab2*01", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab201", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab3*01", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab301", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab4*01", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab4*02", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab401", "resource": "UniProtKB", "type": "synonym" }, { "name": "dab402", "resource": "UniProtKB", "type": "synonym" }, { "name": "mhc2d8.37b3", "resource": "UniProtKB", "type": "synonym" }, { "name": "mhc2dab", "resource": "RefSeq", "type": "synonym" }, { "name": "mhc2deb", "resource": "UniProtKB", 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"zgc:123107", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050168" } ] }, { "uniprot_canonical_ac": "Q1MTC7-1", "uniprot_ac": "Q1MTC7", "uniprot_id": "Q1MTC7_DANRE", "refseq_ac": "NP_001004521", "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 DAA precursor", "resource": "UniProtKB", "type": "synonym" }, { "name": "Major histocompatibility complex class II integral membrane alpha chain gene", "resource": "UniProtKB", "type": "synonym" }, { "name": "Novel vertebrate MHC class II alpha chain protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "alpha chain; MHC class II integral membrane protein alpha chain 2; MHC class II integral membrane 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"id": "0050168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050168" } ] }, { "uniprot_canonical_ac": "A0A023IKK2-1", "uniprot_ac": "A0A023IKK2", "uniprot_id": "A0A023IKK2_RAT", "refseq_ac": "XP_006255973", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "MHC class II beta chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "RT1 class II, locus Db2 isoform X1", "resource": "RefSeq", "type": "synonym" }, { "name": "RT1 class II, locus Db2", "resource": "UniProtKB", "type": "synonym" }, { "name": "RT1-Db2", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "RT1-Db2", "resource": "UniProtKB", "type": "recommended" }, { "name": "Db2", "resource": "RefSeq", "type": "synonym" }, { "name": "Db2", "resource": "UniProtKB", "type": "synonym" }, { 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"name": "RT1-DOb", "resource": "UniProtKB", "type": "synonym" }, { "name": "RT1-Da", "resource": "UniProtKB", "type": "synonym" }, { "name": "RT1-Db1", "resource": "UniProtKB", "type": "synonym" }, { "name": "RT1-Db2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tap1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tap2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tesb", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0050168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050168" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050168" }