[
    {
        "title": "Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.",
        "journal": "Cell Metab.",
        "date": "2021",
        "authors": "Morgenstern Marcel, Peikert Christian D, L\u00fcbbert Philipp, Suppanz Ida, Klemm Cinzia, Alka Oliver, Steiert Conny, Naumenko Nataliia, Schendzielorz Alexander, Melchionda Laura, M\u00fchlh\u00e4user Wignand W D, Knapp Bettina, Busch Jakob D, Stiller Sebastian B, Dannenmaier Stefan, Lindau Caroline, Licheva Mariya, Eickhorst Christopher, Galbusera Riccardo, Zerbes Ralf M, Ryan Michael T, Kraft Claudine, Kozjak-Pavlovic Vera, Drepper Friedel, Dennerlein Sven, Oeljeklaus Silke, Pfanner Nikolaus, Wiedemann Nils, Warscheid Bettina",
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    {
        "title": "The N-terminal anchor sequences of 11beta-hydroxysteroid dehydrogenases determine their orientation in the endoplasmic reticulum membrane.",
        "journal": "The Journal of biological chemistry",
        "date": "1999",
        "authors": "Odermatt A, Arnold P, Stauffer A, Frey BM, Frey FJ",
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        "title": "Structure/function relationships responsible for coenzyme specificity and the isomerase activity of human type 1 3 beta-hydroxysteroid dehydrogenase/isomerase.",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
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                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0090139",
                        "recommended_name": {
                            "id": "DOID:0090139",
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                            "url": "https://disease-ontology.org/term/DOID:0090139",
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                            },
                            {
                                "id": "MONDO:0011503",
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                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "H6PD cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency caused by mutation in H6PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency type 1",
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                            {
                                "id": "MONDO:0011503",
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                            },
                            {
                                "id": "MIM:604931",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604931",
                                "name": "Cortisone reductase deficiency 1",
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                        ],
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                            {
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                            {
                                "id": "0090139",
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                        ]
                    },
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                            },
                            {
                                "id": "MONDO:0011503",
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                                "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
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                            {
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                            },
                            {
                                "id": "MONDO:0011503",
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                            {
                                "id": "MONDO:0011503",
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                            },
                            {
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                                "resource": "MONDO",
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                                "name": "cortisone reductase deficiency 1",
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                            {
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                                "name": "cortisone reductase deficiency caused by mutation in H6PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                                "description": ""
                            },
                            {
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                ],
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                ],
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            {
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                    {
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                    }
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                "glycoeffect": [],
                "start_pos": 359,
                "end_pos": 359,
                "subjects_tested": "9251",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "G",
                "sequence_mut": "D",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/metabolic enzymes).",
                "chr_id": "1",
                "chr_pos": "9263569",
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                            {
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                            {
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                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                            {
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                            },
                            {
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                            "DOID:706",
                            "DOID:1039",
                            "DOID:5604",
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                            "DOID:0080638",
                            "DOID:7757",
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                            "DOID:4960",
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                            "DOID:1036",
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                            {
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                            {
                                "id": "MONDO:0011503",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                            {
                                "id": "MONDO:0011503",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
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                                "description": ""
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                            {
                                "id": "MIM:604931",
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                                "url": "https://www.omim.org/entry/604931",
                                "name": "Cortisone reductase deficiency 1",
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                            {
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                        ]
                    },
                    {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "H6PD cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "apparent cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency caused by mutation in H6PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "hexose-6-phosphate dehydrogenase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:604931",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604931",
                                "name": "Cortisone reductase deficiency 1",
                                "description": "Cortisone reductase deficiency 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "604931",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/604931"
                            },
                            {
                                "id": "0090141",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0090141"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ],
                "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.01.000.000",
                "uniprot_canonical_ac": "O95479-1"
            },
            {
                "evidence": [
                    {
                        "id": "O95479",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O95479"
                    },
                    {
                        "id": "rs6688832",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6688832"
                    },
                    {
                        "id": "rs6688832",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6688832"
                    },
                    {
                        "id": "rs6688832",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6688832"
                    },
                    {
                        "id": "rs6688832",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs6688832#frequency_tab"
                    },
                    {
                        "id": "rs6688832",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs6688832"
                    },
                    {
                        "id": "12858176",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12858176"
                    },
                    {
                        "id": "15827106",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15827106"
                    },
                    {
                        "id": "16091483",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16091483"
                    },
                    {
                        "id": "16817821",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16817821"
                    },
                    {
                        "id": "17062770",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/17062770"
                    },
                    {
                        "id": "18628520",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18628520"
                    },
                    {
                        "id": "rs6688832",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6688832"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 453,
                "end_pos": 453,
                "subjects_tested": "4799",
                "subjects_positive": "4",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/metabolic enzymes).",
                "chr_id": "1",
                "chr_pos": "9263851",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R453",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2531",
                        "recommended_name": {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic malignancy",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematological tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "blood cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0081452",
                            "DOID:706",
                            "DOID:1039",
                            "DOID:5604",
                            "DOID:6536",
                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:0050743",
                            "DOID:4960",
                            "DOID:8527",
                            "DOID:1036",
                            "DOID:5772"
                        ],
                        "evidence": [
                            {
                                "id": "2531",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2531"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0090139",
                        "recommended_name": {
                            "id": "DOID:0090139",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0090139",
                            "name": "cortisone reductase deficiency",
                            "description": "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0090139",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0090139",
                                "name": "CORTRD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency."
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "H6PD cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "apparent cortisone reductase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency caused by mutation in H6PD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "hexose-6-phosphate dehydrogenase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:604931",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/604931",
                                "name": "Cortisone reductase deficiency 1",
                                "description": "Cortisone reductase deficiency 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0090139",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0090139"
                            },
                            {
                                "id": "0090139",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0090139"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0090141",
                        "recommended_name": {
                            "id": "DOID:0090141",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0090141",
                            "name": "cortisone reductase deficiency 1",
                            "description": "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0090141",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0090141",
                                "name": "CORTRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011503",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011503",
                                "name": "cortisone reductase deficiency 1",
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