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                                "name": "deficiency of glucoamylase",
                                "description": ""
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                            {
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                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2752",
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                                "url": "https://disease-ontology.org/term/DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
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                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0017694",
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                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
                                "id": "DOID:2531",
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                            {
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                            {
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                            {
                                "id": "DOID:2752",
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                            {
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                            {
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                            {
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                            {
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                            {
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            {
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                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1170548729",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170548729"
                    },
                    {
                        "id": "rs1170548729",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170548729"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 173,
                "end_pos": 173,
                "sequence_org": "M",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105103",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M173",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1170548729",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1170548729"
                    },
                    {
                        "id": "rs1170548729",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1170548729"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 173,
                "end_pos": 173,
                "sequence_org": "M",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105103",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M173",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs771765461",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771765461"
                    },
                    {
                        "id": "rs771765461",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771765461"
                    },
                    {
                        "id": "rs771765461",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs771765461#frequency_tab"
                    },
                    {
                        "id": "rs771765461",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs771765461"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 174,
                "end_pos": 174,
                "sequence_org": "E",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105108",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E174",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2510347530",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510347530"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 174,
                "end_pos": 174,
                "sequence_org": "E",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105106_80105112",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E174",
                "disease": [
                    {
                        "disease_id": "DOID:2752",
                        "recommended_name": {
                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
                            "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs369288019",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369288019"
                    },
                    {
                        "id": "rs369288019",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs369288019#frequency_tab"
                    },
                    {
                        "id": "rs369288019",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs369288019"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 176,
                "end_pos": 176,
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105112",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E176",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 176,
                "end_pos": 176,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80105112",
                "ref_nt": "G",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "E176",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs386834235",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs386834235"
                    },
                    {
                        "id": "7881422",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/7881422"
                    },
                    {
                        "id": "8990003",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/8990003"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 176,
                "end_pos": 176,
                "sequence_org": "E",
                "sequence_mut": "null",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762439362"
                    },
                    {
                        "id": "rs762439362",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs762439362#frequency_tab"
                    },
                    {
                        "id": "rs762439362",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs762439362"
                    },
                    {
                        "id": "rs762439362",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs762439362"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 178,
                "end_pos": 178,
                "subjects_tested": "320",
                "subjects_positive": "1",
                "frequency": "0.3",
                "sequence_org": "R",
                "sequence_mut": "C",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80105118",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R178",
                "disease": [
                    {
                        "disease_id": "DOID:4362",
                        "recommended_name": {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4362",
                            "name": "cervical cancer",
                            "description": "A female reproductive organ cancer that is located_in the cervix."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
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                                "name": "cervix cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
                                "name": "cervix uteri cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
                                "name": "tumor of the Cervix Uteri",
                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
                                "name": "uterine cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cervical cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the cervix."
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "tumor of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "tumour of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "uterine cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cancer of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cervical cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervical tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervical tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "uterine cervix cancer",
                                "description": ""
                            },
                            {
                                "id": "MIM:603956",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/603956",
                                "name": "Cervical cancer",
                                "description": "Cervical cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "4362",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4362"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:1319",
                        "recommended_name": {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1319",
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                        },
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                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "BT - Brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult malignant brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm, adult",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of Brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of adult brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary malignant neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "tumor of the Brain",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4203",
                            "DOID:3541",
                            "DOID:4706",
                            "DOID:1659",
                            "DOID:368"
                        ],
                        "evidence": [
                            {
                                "id": "1319",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1319"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2752",
                        "recommended_name": {
                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
                            "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features."
                        },
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
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                                "database": "AGR",
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                        ]
                    },
                    {
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                            "id": "DOID:2752",
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                            "url": "https://disease-ontology.org/term/DOID:2752",
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                        },
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                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "id": "MIM:232300",
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                            {
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                    "cancer",
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                    "ebi",
                    "germline"
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            },
            {
                "evidence": [
                    {
                        "id": "rs150797523",
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                    },
                    {
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                    },
                    {
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                    {
                        "id": "rs150797523",
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                    {
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            },
            {
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                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                            "DOID:3451"
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                        "evidence": [
                            {
                                "id": "4159",
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            {
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                    {
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                            {
                                "id": "DOID:2752",
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                            {
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
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                            {
                                "id": "MONDO:0017694",
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                            {
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                            {
                                "id": "MONDO:0017694",
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                            {
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                            {
                                "id": "MONDO:0017694",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "id": "MIM:232300",
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                                "id": "232300",
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                            {
                                "id": "2752",
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                ],
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            },
            {
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            },
            {
                "evidence": [
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                        "id": "rs2143829765",
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                        "id": "rs2143829765",
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                ],
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            {
                "evidence": [
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                        "id": "P10253",
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                    {
                        "id": "rs200524747",
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                    {
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                "sequence_mut": "M",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
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                                "description": "Colorectal cancer"
                            }
                        ],
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                    },
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                            "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
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                            {
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                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2752",
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                            },
                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
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                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
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                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "name": "glycogenosis type 2, infantile onset",
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                                "id": "MONDO:0017694",
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                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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                            {
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                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
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                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
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                ],
                "keywords": [
                    "biomuta",
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                    "ebi",
                    "germline"
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            },
            {
                "evidence": [
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                "end_pos": 182,
                "sequence_org": "T",
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                "chr_id": "17",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
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                            {
                                "id": "MONDO:0017694",
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                            {
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
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                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "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": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                                "description": ""
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                            {
                                "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",
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                                "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",
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                                "id": "DOID:2752",
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 187,
                "end_pos": 187,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "A",
                "sequence_mut": "S",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80105761",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "A187",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3149",
                            "DOID:3451"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs759448253",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759448253"
                    },
                    {
                        "id": "rs759448253",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs759448253"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 188,
                "end_pos": 188,
                "sequence_org": "N",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105764",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N188",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2039068461",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2039068461"
                    },
                    {
                        "id": "rs2039068461",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs2039068461"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 188,
                "end_pos": 188,
                "sequence_org": "N",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105766",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N188",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1598571878",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1598571878"
                    },
                    {
                        "id": "rs1598571878",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1598571878"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 189,
                "end_pos": 189,
                "sequence_org": "R",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105768",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R189",
                "disease": [
                    {
                        "disease_id": "DOID:2752",
                        "recommended_name": {
                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
                            "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 189,
                "end_pos": 189,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "M",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80105768",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R189",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1487798738",
                        "database": "dbSNP",
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                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs149295512",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149295512"
                    },
                    {
                        "id": "rs149295512",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149295512"
                    },
                    {
                        "id": "rs149295512",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs149295512"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 191,
                "end_pos": 191,
                "sequence_org": "Y",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
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                "chr_pos": "80105773",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y191",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs149295512",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149295512"
                    },
                    {
                        "id": "rs149295512",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149295512"
                    },
                    {
                        "id": "rs149295512",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs149295512"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 191,
                "end_pos": 191,
                "sequence_org": "Y",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105773",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y191",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 192,
                "end_pos": 192,
                "subjects_tested": "1906",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "E",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80105776",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "E192",
                "disease": [
                    {
                        "disease_id": "DOID:11054",
                        "recommended_name": {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:11054",
                            "name": "urinary bladder cancer",
                            "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
                                "name": "bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the bladder."
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "bladder cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MIM:109800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/109800",
                                "name": "Bladder cancer",
                                "description": "Bladder cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "11054",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11054"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs760655446",
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                    {
                        "id": "rs760655446",
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                    },
                    {
                        "id": "rs760655446",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs760655446#frequency_tab"
                    },
                    {
                        "id": "rs760655446",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs760655446"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 192,
                "end_pos": 192,
                "sequence_org": "E",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
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                "chr_pos": "80105778",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E192",
                "disease": [
                    {
                        "disease_id": "DOID:2752",
                        "recommended_name": {
                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
                            "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
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                        "evidence": [
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                                "id": "232300",
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                                "url": "https://www.omim.org/entry/232300"
                            },
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
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                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
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                                "id": "MIM:232300",
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                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
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                                "url": "https://www.omim.org/entry/232300"
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                            {
                                "id": "2752",
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                ],
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                    "disease"
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                    {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
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                                "resource": "MONDO",
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                                "name": "malignant colorectal tumor",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                            {
                                "id": "MONDO:0005575",
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                                "name": "malignant tumor of large bowel",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
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                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                            {
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                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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                            {
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                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
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                            {
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
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                                "description": ""
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                            {
                                "id": "DOID:2752",
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                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs765075888",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765075888"
                    },
                    {
                        "id": "rs765075888",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765075888"
                    },
                    {
                        "id": "rs765075888",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs765075888#frequency_tab"
                    },
                    {
                        "id": "rs765075888",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs765075888"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 198,
                "end_pos": 198,
                "sequence_org": "P",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105795",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P198",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    },
                    {
                        "id": "rs956263455",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs956263455"
                    },
                    {
                        "id": "rs956263455",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs956263455"
                    },
                    {
                        "id": "rs956263455",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs956263455"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 198,
                "end_pos": 198,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "T",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80105794",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "P198",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1042393",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1042393"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 199,
                "end_pos": 199,
                "sequence_org": "H",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105798",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H199",
                "disease": [
                    {
                        "disease_id": "DOID:2752",
                        "recommended_name": {
                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
                            "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "id": "MONDO:0017694",
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                                "id": "MONDO:0016419",
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                            {
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                            {
                                "id": "MONDO:0016419",
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                            {
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                            {
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                    "disease"
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            },
            {
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                    {
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                    {
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                ],
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10534",
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                            {
                                "id": "DOID:10534",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "GC",
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                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumour",
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                            {
                                "id": "MONDO:0001056",
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                            {
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of lesser curve of stomach",
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                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                                "name": "malignant tumor of stomach",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of the stomach",
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                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of lesser curve of stomach",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "10534",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
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                                "url": "https://disease-ontology.org/term/DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
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                                "description": ""
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                            {
                                "id": "DOID:2752",
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                            {
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                                "resource": "Disease Ontology",
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                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
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                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
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                            {
                                "id": "MONDO:0017694",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "name": "Pompe disease, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                "ref_nt": "T",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                    {
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                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                            {
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    },
                    {
                        "id": "rs201286896",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201286896"
                    },
                    {
                        "id": "rs201286896",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201286896"
                    },
                    {
                        "id": "rs201286896",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201286896"
                    },
                    {
                        "id": "rs201286896",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs201286896#frequency_tab"
                    },
                    {
                        "id": "rs201286896",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs201286896"
                    },
                    {
                        "id": "rs201286896",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201286896"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 215,
                "end_pos": 215,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80105845",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E215",
                "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:2752",
                        "recommended_name": {
                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
                            "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
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                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2752",
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                            },
                            {
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                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "id": "MONDO:0017694",
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                "end_pos": 222,
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                    {
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                    {
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                    {
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
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                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0016419",
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": ""
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                            {
                                "id": "MIM:114480",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114480",
                                "name": "Breast cancer",
                                "description": "Breast cancer"
                            }
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                            "DOID:0050938"
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "id": "MONDO:0017694",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "name": "Pompe disease, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
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                            {
                                "id": "MONDO:0017694",
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                                "description": ""
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                                "name": "Pompe disease, infantile-onset",
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                            {
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                            {
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                            {
                                "id": "MONDO:0017694",
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                            {
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                            {
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                            {
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                            {
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            },
                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
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                            {
                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                            {
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                                "id": "DOID:2752",
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                            {
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                            {
                                "id": "DOID:2752",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
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                                "id": "DOID:10283",
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                            {
                                "id": "DOID:10283",
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                            {
                                "id": "DOID:10283",
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                            {
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                            {
                                "id": "MONDO:0010257",
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                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer, hereditary, X-linked 1",
                                "description": ""
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                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010405",
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                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
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                                "name": "RNASEL familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "familial prostate cancer caused by mutation in RNASEL",
                                "description": ""
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                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": ""
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                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, type 1",
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                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, type 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "HPC8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, susceptibility to, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "HPC3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, susceptibility to, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "HPC4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "HPC5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, type 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "HPC6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "HPC7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, type 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "HPC9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "HPC10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "EHBP1 familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "familial prostate cancer caused by mutation in EHBP1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, type 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "HPC12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "MSMB familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "familial prostate cancer caused by mutation in MSMB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, type 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "HPC13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "HPC11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "HPC14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "HPC15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0700275",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0700275",
                                "name": "prostate cancer, hereditary",
                                "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents."
                            },
                            {
                                "id": "MIM:601518",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/601518",
                                "name": "Prostate cancer, hereditary, 1",
                                "description": "Prostate cancer, hereditary, 1"
                            },
                            {
                                "id": "MIM:610997",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610997",
                                "name": "Prostate cancer, hereditary, 9",
                                "description": "Prostate cancer, hereditary, 9"
                            },
                            {
                                "id": "MIM:611868",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611868",
                                "name": "Prostate cancer, hereditary, 12",
                                "description": "Prostate cancer, hereditary, 12"
                            },
                            {
                                "id": "MIM:611928",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611928",
                                "name": "Prostate cancer, hereditary, 13",
                                "description": "Prostate cancer, hereditary, 13"
                            },
                            {
                                "id": "MIM:611955",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611955",
                                "name": "Prostate cancer, hereditary, 11",
                                "description": "Prostate cancer, hereditary, 11"
                            },
                            {
                                "id": "MIM:176807",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/176807",
                                "name": "Prostate cancer",
                                "description": "Prostate cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10283",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10283"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2752",
                        "recommended_name": {
                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
                            "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 227,
                "end_pos": 227,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80105881",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "D227",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3149",
                            "DOID:3451"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2143834983",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143834983"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 229,
                "end_pos": 229,
                "sequence_org": "R",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105885",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R229",
                "disease": [
                    {
                        "disease_id": "DOID:2752",
                        "recommended_name": {
                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
                            "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1192534237",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1192534237"
                    },
                    {
                        "id": "rs1192534237",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1192534237"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 22,
                "end_pos": 22,
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80104650",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A22",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs773089240",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773089240"
                    },
                    {
                        "id": "rs773089240",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773089240"
                    },
                    {
                        "id": "rs773089240",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs773089240"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 22,
                "end_pos": 22,
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80104651",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A22",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    },
                    {
                        "id": "rs145866792",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145866792"
                    },
                    {
                        "id": "rs145866792",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145866792"
                    },
                    {
                        "id": "rs145866792",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145866792"
                    },
                    {
                        "id": "rs145866792",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs145866792#frequency_tab"
                    },
                    {
                        "id": "rs145866792",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs145866792"
                    },
                    {
                        "id": "rs145866792",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145866792"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 230,
                "end_pos": 230,
                "subjects_tested": "4177",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "V",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80105890",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "V230",
                "disease": [
                    {
                        "disease_id": "DOID:10283",
                        "recommended_name": {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:10283",
                            "name": "prostate cancer",
                            "description": "A male reproductive organ cancer that is located_in the prostate."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "NGP - new growth of prostate",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "hereditary prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "malignant tumor of the prostate",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "prostate cancer, familial",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "prostate neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "prostatic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "prostatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10283",
                                "name": "tumor of the prostate",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer, hereditary, X-linked 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "HPCX1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer, hereditary, X-linked 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "prostate cancer, hereditary, X-linked 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "HPCX2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "prostate cancer, hereditary, X-linked 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "RNASEL familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "familial prostate cancer caused by mutation in RNASEL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "HPC1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, type 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "HPC8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, susceptibility to, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "HPC3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, susceptibility to, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "HPC4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "HPC5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, type 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "HPC6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "HPC7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, type 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "HPC9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "HPC10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "EHBP1 familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "familial prostate cancer caused by mutation in EHBP1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, type 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "HPC12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "MSMB familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "familial prostate cancer caused by mutation in MSMB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, type 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "HPC13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "HPC11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "HPC14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "HPC15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0700275",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0700275",
                                "name": "prostate cancer, hereditary",
                                "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents."
                            },
                            {
                                "id": "MIM:601518",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/601518",
                                "name": "Prostate cancer, hereditary, 1",
                                "description": "Prostate cancer, hereditary, 1"
                            },
                            {
                                "id": "MIM:610997",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610997",
                                "name": "Prostate cancer, hereditary, 9",
                                "description": "Prostate cancer, hereditary, 9"
                            },
                            {
                                "id": "MIM:611868",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611868",
                                "name": "Prostate cancer, hereditary, 12",
                                "description": "Prostate cancer, hereditary, 12"
                            },
                            {
                                "id": "MIM:611928",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611928",
                                "name": "Prostate cancer, hereditary, 13",
                                "description": "Prostate cancer, hereditary, 13"
                            },
                            {
                                "id": "MIM:611955",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611955",
                                "name": "Prostate cancer, hereditary, 11",
                                "description": "Prostate cancer, hereditary, 11"
                            },
                            {
                                "id": "MIM:176807",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/176807",
                                "name": "Prostate cancer",
                                "description": "Prostate cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10283",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10283"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2752",
                        "recommended_name": {
                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
                            "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs145866792",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145866792"
                    },
                    {
                        "id": "rs145866792",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145866792"
                    },
                    {
                        "id": "rs145866792",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145866792"
                    },
                    {
                        "id": "rs145866792",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs145866792#frequency_tab"
                    },
                    {
                        "id": "rs145866792",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs145866792"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 230,
                "end_pos": 230,
                "sequence_org": "V",
                "sequence_mut": "M",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105890",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V230",
                "disease": [
                    {
                        "disease_id": "DOID:2752",
                        "recommended_name": {
                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
                            "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features."
                        },
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1555599168",
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                    },
                    {
                        "id": "rs1555599168",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1555599168"
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 231,
                "sequence_org": "L",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105894",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L231",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs766931184",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766931184"
                    },
                    {
                        "id": "rs766931184",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766931184"
                    },
                    {
                        "id": "rs766931184",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs766931184"
                    }
                ],
                "glycoeffect": [
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                ],
                "start_pos": 234,
                "end_pos": 234,
                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
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                "chr_pos": "80107564",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T234",
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                    {
                        "disease_id": "DOID:2752",
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                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
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                        },
                        "synonyms": [
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
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                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
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                                "description": "Pompe disease, infantile-onset"
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                        ],
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                        "evidence": [
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                                "id": "232300",
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                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
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                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    },
                    {
                        "id": "rs752054011",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752054011"
                    },
                    {
                        "id": "rs752054011",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752054011"
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                    {
                        "id": "rs752054011",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs752054011#frequency_tab"
                    },
                    {
                        "id": "rs752054011",
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                    {
                        "id": "rs752054011",
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                "sequence_mut": "M",
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                "chr_pos": "80107565",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "T234",
                "disease": [
                    {
                        "disease_id": "DOID:11054",
                        "recommended_name": {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:11054",
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                        },
                        "synonyms": [
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
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                                "description": ""
                            },
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the bladder."
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "bladder cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumour",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/109800",
                                "name": "Bladder cancer",
                                "description": "Bladder cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
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                                "id": "11054",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11054"
                            }
                        ]
                    },
                    {
                        "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",
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                            },
                            {
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                                "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",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                            "DOID:4960",
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                            {
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                                "url": "https://disease-ontology.org/term/DOID:11934",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                    {
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                    {
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                            {
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                            {
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                            {
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                            {
                                "id": "DOID:1319",
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                            {
                                "id": "DOID:1319",
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "id": "DOID:1319",
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                            {
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                            {
                                "id": "DOID:1319",
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                            {
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                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2510357510",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510357510"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 243,
                "end_pos": 243,
                "sequence_org": "D",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80107591_80107592insCCACCAGG",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D243",
                "disease": [
                    {
                        "disease_id": "DOID:2752",
                        "recommended_name": {
                            "id": "DOID:2752",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
                            "description": "A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
                                "description": "Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 243,
                "end_pos": 243,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "E",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80107593",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "D243",
                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 243,
                "end_pos": 243,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "G",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80107592",
                "ref_nt": "A",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "D243",
                "disease": [
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "DOID:4159",
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                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "DOID:2752",
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                                "id": "DOID:2752",
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                                "id": "DOID:2752",
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                                "id": "MONDO:0017694",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease due to acid maltase deficiency, infantile onset",
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                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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                                "id": "MIM:232300",
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                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
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                                "id": "232300",
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                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
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                    }
                ],
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            },
            {
                "evidence": [
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2394",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2394",
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                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2394",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2394",
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                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2394",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
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                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
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                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
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                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
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                            }
                        ],
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                                "id": "2394",
                                "database": "AGR",
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                        ]
                    }
                ],
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            },
            {
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                    {
                        "id": "rs200509552",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs200509552#frequency_tab"
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                    {
                        "id": "rs200509552",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs200509552"
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                "alt_nt": "null",
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                                "id": "DOID:2752",
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                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2752",
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                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "MONDO:0017694",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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                            {
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                            "DOID:4114"
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ]
            }
        ]
    }
}
