{
    "disease_id": "DOID:0061244",
    "recommended_name": {
        "id": "DOID:0061244",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061244",
        "name": "glucocorticoid deficiency 5",
        "description": "A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the TXNRD2 gene on chromosome 22q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0040502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040502",
            "name": "glucocorticoid deficiency 5",
            "description": ""
        },
        {
            "id": "MONDO:0040502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040502",
            "name": "glucocorticoid deficiency 5",
            "description": ""
        },
        {
            "id": "MONDO:0040502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040502",
            "name": "GCCD5",
            "description": ""
        },
        {
            "id": "MIM:617825",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617825",
            "name": "Glucocorticoid deficiency 5",
            "description": "Glucocorticoid deficiency 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061244"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061244",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061244",
            "categories": []
        },
        {
            "id": "MONDO:0040502",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040502",
            "categories": []
        },
        {
            "id": "MIM:617825",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617825",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9NNW7-1",
            "uniprot_ac": "Q9NNW7",
            "uniprot_id": "TRXR2_HUMAN",
            "refseq_ac": "NP_006431",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thioredoxin reductase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.8.1.9",
                    "type": "synonym"
                },
                {
                    "name": "SelZ",
                    "type": "synonym"
                },
                {
                    "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": "617825",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617825"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061244"
}