{
    "disease_id": "DOID:0050167",
    "recommended_name": {
        "id": "DOID:0050167",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050167",
        "name": "autoimmune polyendocrine syndrome type 1",
        "description": "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs."
    },
    "synonyms": [
        {
            "id": "DOID:0050167",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050167",
            "name": "Autoimmune Polyglandular Syndrome I",
            "description": ""
        },
        {
            "id": "DOID:0050167",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050167",
            "name": "Whitaker syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050167",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050167",
            "name": "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyendocrine syndrome type 1",
            "description": "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure."
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "AIRE autoimmune polyendocrinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "APECED syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "APS type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "APS1",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "Autoimmune Polyglandular Syndrome Type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "MEDAC syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "Whitaker syndrom",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "aire autoimmune polyendocrinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyendocrine syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyendocrinopathy caused by mutation in AIRE",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyendocrinopathy caused by mutation in aire",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyglandular syndrome I",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyglandular syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "ham syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "multiple endocrine deficiency-Addison disease-candidiasis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "polyglandular autoimmune syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "APS 1",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "PGA 1",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "Whitaker syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyendocrinopathy syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyendocrinopathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "autoimmune polyglandular syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "polyglandular autoimmune syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "polyglandular deficiency syndrome, Persian-Jewish type",
            "description": ""
        },
        {
            "id": "MIM:240300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/240300",
            "name": "Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia",
            "description": "Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050167"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050167",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050167",
            "categories": []
        },
        {
            "id": "MONDO:0009411",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "categories": []
        },
        {
            "id": "MIM:240300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/240300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z0E3-1",
            "uniprot_ac": "Q9Z0E3",
            "uniprot_id": "AIRE_MOUSE",
            "refseq_ac": "NP_001258478",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Autoimmune regulator",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "APECED protein homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein homolog",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "autoimmune regulator AIRE1a; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein homolog; APECED protein homolog; autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "autoimmune regulator isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aire",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Aire",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0050167",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050167"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06880-1",
            "uniprot_ac": "P06880",
            "uniprot_id": "SOMA_MOUSE",
            "refseq_ac": "NP_032143",
            "glycoprotein": "no",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Somatotropin",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Growth hormone",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "somatotropin precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "somatotropin; growth hormone b1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gh1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Gh1; Ghb1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Gh",
                    "resource": "RefSeq",
                    "type": "synonym"
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                {
                    "name": "Gh",
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                    "type": "synonym"
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                    "id": "0050167",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050167"
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            ]
        },
        {
            "uniprot_canonical_ac": "P16043-1",
            "uniprot_ac": "P16043",
            "uniprot_id": "SLIB_MOUSE",
            "refseq_ac": "NP_001316612",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Somatoliberin",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GHRH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GRF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone-releasing factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone-releasing hormone",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "somatoliberin preproprotein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "somatoliberin; growth hormone-releasing factor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ghrh",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ghrf; GRF",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Ghrh",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0050167",
                    "database": "Alliance of Genome Resources",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01241-1",
            "uniprot_ac": "P01241",
            "uniprot_id": "SOMA_HUMAN",
            "refseq_ac": "NP_000506",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Somatotropin",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GH-N",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Pituitary growth hormone",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "pituitary growth hormone; somatotropin; growth hormone B5",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "somatotropin isoform 1 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSH1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CSH2",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GH1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CSH2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GH1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GH; GH-N; GHB5; GHN; hGH-N; IGHD1A; IGHD1B; IGHD2",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hCG_1749481",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0050167",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050167"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01286-1",
            "uniprot_ac": "P01286",
            "uniprot_id": "SLIB_HUMAN",
            "refseq_ac": "NP_001171660",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Somatoliberin",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GHRH",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GRF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone-releasing factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone-releasing hormone",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Somatocrinin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Somatorelin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "somatoliberin isoform 2 preproprotein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "somatoliberin; sermorelin; somatocrinin; somatorelin; growth hormone releasing factor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GHRH",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "GHRF; GRF; INN",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "GHRF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "GHRH",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0050167",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050167"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43918-1",
            "uniprot_ac": "O43918",
            "uniprot_id": "AIRE_HUMAN",
            "refseq_ac": "NP_000374",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Autoimmune regulator",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "APECED protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "autoimmune regulator",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AIRE",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "AIRE1; APECED; APS1; APSI; PGA1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "AIRE",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "APECED",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0050167",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050167"
                },
                {
                    "id": "240300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/240300"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8HG42-1",
            "uniprot_ac": "A8HG42",
            "uniprot_id": "A8HG42_DANRE",
            "refseq_ac": "NP_001103484",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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    ],
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    "association_flag": "1000",
    "record_id": "doid.0050167"
}