{
    "disease_id": "DOID:0080620",
    "recommended_name": {
        "id": "DOID:0080620",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080620",
        "name": "familial glucocorticoid deficiency",
        "description": "An adrenal cortex disease that is characterized by insufficient production of glucocorticoids."
    },
    "synonyms": [
        {
            "id": "MONDO:0024536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "name": "glucocorticoid deficiency 1",
            "description": "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene."
        },
        {
            "id": "MONDO:0024536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "name": "MC2R familial glucocorticoid deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0024536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "name": "familial glucocorticoid deficiency caused by mutation in MC2R",
            "description": ""
        },
        {
            "id": "MONDO:0024536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "name": "glucocorticoid deficiency 1",
            "description": ""
        },
        {
            "id": "MONDO:0024536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "name": "glucocorticoid deficiency, due to ACTH unresponsiveness",
            "description": ""
        },
        {
            "id": "MONDO:0024536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "name": "GCCD1",
            "description": ""
        },
        {
            "id": "MIM:202200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/202200",
            "name": "Glucocorticoid deficiency 1",
            "description": "Glucocorticoid deficiency 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0061242",
            "label": "glucocorticoid deficiency 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061243",
            "label": "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061244",
            "label": "glucocorticoid deficiency 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080621",
            "label": "glucocorticoid deficiency 1",
            "link_status": true,
            "children": []
        }
    ],
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        "DOID:0061243",
        "DOID:0061244",
        "DOID:0080620",
        "DOID:0061242",
        "DOID:0080621"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080620",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080620",
            "categories": []
        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "categories": []
        },
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            "url": "https://www.omim.org/entry/202200",
            "categories": []
        }
    ],
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                },
                {
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            ],
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                    "name": "txnrd2.2",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
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                    "name": "si:ch1073-179p4.3",
                    "type": "synonym"
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                }
            ]
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                }
            ],
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                    "name": "Nicotinamide nucleotide transhydrogenase",
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                    "type": "synonym"
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                    "name": "C21ORF61",
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                }
            ],
            "protein_names": [
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                    "type": "recommended"
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                },
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                    "type": "synonym"
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                    "name": "Thioredoxin reductase TR3",
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                {
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                },
                {
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                    "type": "synonym"
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        {
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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            ],
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                    "type": "recommended"
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                {
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                },
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                },
                {
                    "name": "Selenoprotein Z",
                    "type": "synonym"
                },
                {
                    "name": "TR-beta",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin reductase TR3",
                    "type": "synonym"
                },
                {
                    "name": "selenoprotein Z",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin reductase 2, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin reductase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin reductase 3",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin reductase TR3",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin reductase beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TXNRD2",
                    "type": "recommended"
                },
                {
                    "name": "GCCD5",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1652",
                    "type": "synonym"
                },
                {
                    "name": "SELZ",
                    "type": "synonym"
                },
                {
                    "name": "TR-BETA",
                    "type": "synonym"
                },
                {
                    "name": "TR3",
                    "type": "synonym"
                },
                {
                    "name": "TRXR2",
                    "type": "synonym"
                },
                {
                    "name": "TR",
                    "type": "synonym"
                },
                {
                    "name": "TXNR2",
                    "type": "synonym"
                },
                {
                    "name": "TXNRD2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NNW7-1",
            "evidence": [
                {
                    "id": "0080620",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080620"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TCY5-4",
            "uniprot_ac": "Q8TCY5",
            "uniprot_id": "MRAP_HUMAN",
            "refseq_ac": "NP_001272323",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Melanocortin-2 receptor accessory protein",
                    "type": "recommended"
                },
                {
                    "name": "B27",
                    "type": "synonym"
                },
                {
                    "name": "Fat cell-specific low molecular weight protein",
                    "type": "synonym"
                },
                {
                    "name": "Fat tissue-specific low MW protein",
                    "type": "synonym"
                },
                {
                    "name": "fat cell-specific low molecular weight protein",
                    "type": "synonym"
                },
                {
                    "name": "fat tissue-specific low MW protein",
                    "type": "synonym"
                },
                {
                    "name": "melanocortin-2 receptor accessory protein isoform c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRAP",
                    "type": "recommended"
                },
                {
                    "name": "B27",
                    "type": "synonym"
                },
                {
                    "name": "C21orf61",
                    "type": "synonym"
                },
                {
                    "name": "FALP",
                    "type": "synonym"
                },
                {
                    "name": "GCCD2",
                    "type": "synonym"
                },
                {
                    "name": "MRAP1",
                    "type": "synonym"
                },
                {
                    "name": "MRAP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TCY5-4",
            "evidence": [
                {
                    "id": "0080620",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080620"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13423-1",
            "uniprot_ac": "Q13423",
            "uniprot_id": "NNTM_HUMAN",
            "refseq_ac": "NP_036475",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NAD(P) transhydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.1",
                    "type": "synonym"
                },
                {
                    "name": "NAD(P) transhydrogenase, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "NAD(P) transhydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Nicotinamide nucleotide transhydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Pyridine nucleotide transhydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "pyridine nucleotide transhydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NNT",
                    "type": "recommended"
                },
                {
                    "name": "GCCD4",
                    "type": "synonym"
                },
                {
                    "name": "NNT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13423-1",
            "evidence": [
                {
                    "id": "0080620",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080620"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080620"
}