{
    "disease_id": "DOID:0050167",
    "recommended_name": {
        "id": "DOID:0050167",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0050167",
            "name": "Autoimmune Polyglandular Syndrome I",
            "description": ""
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            "id": "DOID:0050167",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050167",
            "name": "Whitaker syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050167",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050167",
            "name": "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy",
            "description": ""
        },
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            "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."
        },
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            "id": "MONDO:0009411",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
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            "description": ""
        },
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            "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",
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            "url": "https://monarchinitiative.org/disease/MONDO:0009411",
            "name": "APS1",
            "description": ""
        },
        {
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            "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",
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        },
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            "description": ""
        },
        {
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            "name": "autoimmune polyendocrinopathy caused by mutation in AIRE",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
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            "name": "autoimmune polyendocrinopathy caused by mutation in aire",
            "description": ""
        },
        {
            "id": "MONDO:0009411",
            "resource": "MONDO",
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            "description": ""
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            "description": ""
        },
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            "resource": "MONDO",
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            "name": "ham syndrome",
            "description": ""
        },
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            "description": ""
        },
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            "id": "MONDO:0009411",
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            "description": ""
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                {
                    "name": "INN",
                    "type": "synonym"
                }
            ],
            "record_id": "P01286-1",
            "evidence": [
                {
                    "id": "0050167",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050167"
                }
            ]
        },
        {
            "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",
                    "type": "recommended"
                },
                {
                    "name": "GH-N",
                    "type": "synonym"
                },
                {
                    "name": "GH",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone 1",
                    "type": "synonym"
                },
                {
                    "name": "Growth hormone",
                    "type": "synonym"
                },
                {
                    "name": "Pituitary growth hormone",
                    "type": "synonym"
                },
                {
                    "name": "growth hormone B5",
                    "type": "synonym"
                },
                {
                    "name": "pituitary growth hormone",
                    "type": "synonym"
                },
                {
                    "name": "somatotropin isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "somatotropin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSH1",
                    "type": "recommended"
                },
                {
                    "name": "CSH2",
                    "type": "recommended"
                },
                {
                    "name": "GH1",
                    "type": "recommended"
                },
                {
                    "name": "CSH2",
                    "type": "synonym"
                },
                {
                    "name": "GH-N",
                    "type": "synonym"
                },
                {
                    "name": "GH1",
                    "type": "synonym"
                },
                {
                    "name": "GHB5",
                    "type": "synonym"
                },
                {
                    "name": "GHN",
                    "type": "synonym"
                },
                {
                    "name": "GH",
                    "type": "synonym"
                },
                {
                    "name": "IGHD1A",
                    "type": "synonym"
                },
                {
                    "name": "IGHD1B",
                    "type": "synonym"
                },
                {
                    "name": "IGHD2",
                    "type": "synonym"
                },
                {
                    "name": "hGH-N",
                    "type": "synonym"
                },
                {
                    "name": "hGH",
                    "type": "synonym"
                }
            ],
            "record_id": "P01241-1",
            "evidence": [
                {
                    "id": "0050167",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050167"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050167"
}