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                "title": "O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.",
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                "date": "2024",
                "authors": "Vang Shia, Helton Eric Scott, Guo Yiming, Burpee Bailey, Rose Elex, Easter Molly, Bollenbecker Seth, Hirsch Meghan June, Matthews Emma Lea, Jones Luke Isaac, Howze Patrick Henry, Rajasekaran Vasanthi, Denson Rebecca, Cochran Phillip, Attah Isaac Kwame, Olson Heather, Clair Geremy, Melkani Girish, Krick Stefanie, Barnes Jarrod Wesley",
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                "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.",
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                "title": "Quantitative proteomics identifies altered O-GlcNAcylation of structural, synaptic and memory-associated proteins in Alzheimer's disease.",
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                "authors": "Wang S, Yang F, Petyuk VA, Shukla AK, Monroe ME, Gritsenko MA, Rodland KD, Smith RD, Qian WJ, Gong CX, Liu T",
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                "title": "DNA probe pulldown screening uncovers O-GlcNAcylation modulation of transcription factor DNA interactions.",
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                "authors": "Li Guofang, Meng Fanxu, Zhong Xiaomin, Yu Kairan, Zhang Nana, Zhang Keren, Huang Huang, Li Wenli, Zhang Jianing, Wang Wei, Ren Yan, Liu Yubo",
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                "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM",
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                ]
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            {
                "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.",
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                "date": "2024-01-22",
                "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie",
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                            {
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                            {
                                "id": "DOID:2752",
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                            {
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                            {
                                "id": "MONDO:0017694",
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                            {
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                "subjects_tested": "3601",
                "subjects_positive": "1",
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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",
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                            {
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                            {
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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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                            {
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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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                "categories": [
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                "id": "P10253",
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            {
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                                "name": "primary breast cancer",
                                "description": ""
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                            {
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "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",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
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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": "MONDO:0016419",
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                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "breast cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                                "name": "familial cancer of breast",
                                "description": ""
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                            {
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                            {
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                                "name": "Breast cancer",
                                "description": "Breast cancer"
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                        ],
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                            "url": "https://disease-ontology.org/term/DOID:2752",
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                                "id": "DOID:2752",
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                                "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",
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                                "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": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "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."
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "name": "GSD 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": "GSD type 2, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
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                            {
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                            {
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                                "url": "https://www.omim.org/entry/232300",
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                                "description": "Pompe disease, infantile-onset"
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                    }
                ]
            },
            {
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                "type": "N-linked",
                "subtype": "",
                "prediction_tool_list": [],
                "site_category": "reported_with_glycan",
                "site_category_dict": {
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                },
                "site_seq": "GVFITnETGQPLIGK",
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                "icn3d_view": {},
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                    {
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                ]
            },
            {
                "glytoucan_ac": "G46503DX",
                "type": "N-linked",
                "subtype": "",
                "prediction_tool_list": [],
                "site_category": "reported_with_glycan",
                "site_category_dict": {
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                "site_seq": "GVFITnETGQPLIGK",
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                "icn3d_view": {},
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                    {
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                ]
            },
            {
                "glytoucan_ac": "G48213MO",
                "type": "N-linked",
                "subtype": "",
                "prediction_tool_list": [],
                "site_category": "reported_with_glycan",
                "site_category_dict": {
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                "site_seq": "N",
                "relation": "attached",
                "comment": "",
                "icn3d_view": {},
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                    {
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                ]
            },
            {
                "glytoucan_ac": "G49018RC",
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                "site_category": "reported_with_glycan",
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                "site_seq": "GVFITnETGQPLIGK",
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                    {
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                ]
            },
            {
                "glytoucan_ac": "G55220VL",
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                ]
            },
            {
                "glytoucan_ac": "G62765YT",
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                "prediction_tool_list": [],
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                ]
            },
            {
                "glytoucan_ac": "G72735IY",
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                "prediction_tool_list": [],
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                    {
                        "id": "723",
                        "database": "GlyConnect",
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                ]
            },
            {
                "glytoucan_ac": "G80075MS",
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                "subtype": "",
                "prediction_tool_list": [],
                "site_category": "reported_with_glycan",
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                },
                "site_seq": "RGVFITnETGQPLIGK",
                "relation": "attached",
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                "icn3d_view": {},
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                    {
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                ]
            },
            {
                "glytoucan_ac": "G80920RR",
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                "subtype": "",
                "prediction_tool_list": [],
                "site_category": "reported_with_glycan",
                "site_category_dict": {
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                },
                "site_seq": "GVFITnETGQPLIGK",
                "relation": "attached",
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                "icn3d_view": {},
                "start_aa": "Asn",
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                    {
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                ]
            },
            {
                "glytoucan_ac": "G81315DD",
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                "subtype": "",
                "prediction_tool_list": [],
                "site_category": "reported_with_glycan",
                "site_category_dict": {
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                "site_seq": "N",
                "relation": "attached",
                "comment": "",
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                "start_aa": "Asn",
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                    {
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                    {
                        "id": "5NN3",
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                    {
                        "id": "9GSW",
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                    {
                        "id": "9GTL",
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                    {
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                        "url": "https://www.rcsb.org/structure/9GTT"
                    }
                ]
            },
            {
                "glytoucan_ac": "G83460ZZ",
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                "subtype": "",
                "prediction_tool_list": [],
                "site_category": "reported_with_glycan",
                "site_category_dict": {
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                },
                "site_seq": "GVFITnETGQPLIGK",
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                "comment": "",
                "icn3d_view": {},
                "start_aa": "Asn",
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                    {
                        "id": "PDC000471",
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                ]
            },
            {
                "glytoucan_ac": "G92050GC",
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                "subtype": "",
                "prediction_tool_list": [],
                "site_category": "reported_with_glycan",
                "site_category_dict": {
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                "site_seq": "GVFITnETGQPLIGK",
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                "icn3d_view": {},
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                "evidence": [
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                    {
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                ]
            },
            {
                "glytoucan_ac": "",
                "type": "N-linked",
                "subtype": "",
                "prediction_tool_list": [],
                "site_category": "reported",
                "site_category_dict": {
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                    "automatic_literature_mining": true
                },
                "site_seq": "N",
                "relation": "attached",
                "comment": "",
                "icn3d_view": {},
                "start_aa": "Asn",
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                    {
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                    {
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                        "url": "https://glygen.org/publication/PubMed/19159218"
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                    {
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                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/12754519"
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                    {
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                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/8435067"
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                    {
                        "id": "29061980",
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                        "url": "https://glygen.org/publication/PubMed/29061980"
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                    {
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                    {
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                    {
                        "id": "23090970",
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                    {
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                    {
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                        "url": "https://glygen.org/publication/PubMed/24190977"
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                    {
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                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/22226559"
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                    {
                        "id": "GLY_000481",
                        "database": "GlyGen",
                        "url": "https://data.glygen.org/GLY_000481"
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                ],
                "mining_tool": "GlycoSiteMiner_1.0",
                "mining_tool_list": [
                    {
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                ]
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        ],
        "snv": [
            {
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                    {
                        "id": "rs886043068",
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                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss"
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                "sequence_org": "N",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NET->KET); glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80110028",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N470",
                "disease": [
                    {
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                        "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"
                            }
                        ],
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                        "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": "rs144155165",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144155165"
                    },
                    {
                        "id": "rs144155165",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144155165"
                    },
                    {
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                "id": "5KZW|A|882",
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                "id": "5KZX|A|882",
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            },
            {
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                            {
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                            {
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                ]
            },
            {
                "glytoucan_ac": "G74724QE",
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                "prediction_tool_list": [],
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                "relation": "attached",
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                    {
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                ]
            },
            {
                "glytoucan_ac": "G80920RR",
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                "prediction_tool_list": [],
                "site_category": "reported_with_glycan",
                "site_category_dict": {
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                "site_seq": "VTVLGVATAPQQVLSNGVPVSNFTYSPDTK",
                "relation": "attached",
                "comment": "",
                "icn3d_view": {},
                "start_aa": "Asn",
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                "evidence": [
                    {
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                    {
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                    {
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                        "database": "PubMed",
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                    {
                        "id": "PDC000471",
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                ]
            },
            {
                "glytoucan_ac": "G90382BL",
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                "prediction_tool_list": [],
                "site_category": "reported_with_glycan",
                "site_category_dict": {
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                "site_seq": "VTVLGVATAPQQVLSNGVPVSnFTYSPDTK",
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                "icn3d_view": {},
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                    {
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                ]
            },
            {
                "glytoucan_ac": "G92050GC",
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                "prediction_tool_list": [],
                "site_category": "reported_with_glycan",
                "site_category_dict": {
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                "site_seq": "VTVLGVATAPQQVLSNGVPVSnFTYSPDTK",
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                "icn3d_view": {},
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                    {
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                ]
            },
            {
                "glytoucan_ac": "G92275SC",
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                "prediction_tool_list": [],
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                "site_seq": "N",
                "relation": "attached",
                "comment": "high-energy collision-induced dissociation",
                "icn3d_view": {},
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                "evidence": [
                    {
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                    {
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                    {
                        "id": "10.1007/s00018-021-03863-1",
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                        "url": "https://glygen.org/publication/DOI/10.1007/s00018-021-03863-1"
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                    {
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                    {
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                ]
            },
            {
                "glytoucan_ac": "G95865ZB",
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                ]
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                "glytoucan_ac": "",
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                "site_seq": "N",
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                    {
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                        "database": "PubMed",
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                ],
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                "mining_tool_list": [
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                "sequence_org": "N",
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                "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFT->DFT); glycogene of type=glycogene, glycosylhydrolase.",
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            {
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                "glycoeffect": [
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                "sequence_org": "N",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFT->XFT); glycogene of type=glycogene, glycosylhydrolase.",
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                            {
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "glycogen storage disease type II",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "name": "GSD due to acid maltase deficiency, infantile onset",
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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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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
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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",
                                "name": "glycogen storage disease type 2, infantile onset",
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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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                ],
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                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "Glycogenosis, type 2",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Lysosomal alpha-1,4-glucosidase deficiency",
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                            {
                                "id": "DOID:2752",
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                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
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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",
                                "name": "deficiency of glucoamylase",
                                "description": ""
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                            {
                                "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",
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                            },
                            {
                                "id": "DOID:2752",
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                                "name": "Pompe disease",
                                "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."
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                            {
                                "id": "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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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "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",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
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                            },
                            {
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                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant oesophagus neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant oesophagus tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "oesophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the middle third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of abdominal oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the middle third of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MIM:133239",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133239",
                                "name": "Esophageal cancer",
                                "description": "Esophageal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "5041",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:5041"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
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                            {
                                "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"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:10534",
                        "recommended_name": {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:10534",
                            "name": "stomach cancer",
                            "description": "A gastrointestinal system cancer that is located_in the stomach."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10534",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10534",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the stomach."
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca lesser curvature - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "GC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "cancer of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer risk after h. pylori infection",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant stomach neoplasm",
                                "description": ""
                            },
                            {
                                "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",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "stomach cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca body - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "ca greater curvature of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MIM:613659",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613659",
                                "name": "Gastric cancer",
                                "description": "Gastric cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10534",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
                            },
                            {
                                "id": "10534",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
                            }
                        ]
                    },
                    {
                        "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": ""
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                                "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",
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                                "description": ""
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                            {
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                                "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",
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                                "name": "Pompe disease",
                                "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."
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                            {
                                "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": "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": ""
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "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",
                                "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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                                "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",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                                "description": ""
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                            {
                                "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",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic malignancy",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematological tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "blood cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0081452",
                            "DOID:706",
                            "DOID:1039",
                            "DOID:5604",
                            "DOID:6536",
                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:0050743",
                            "DOID:4960",
                            "DOID:8527",
                            "DOID:1036",
                            "DOID:5772"
                        ],
                        "evidence": [
                            {
                                "id": "2531",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2531"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID: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",
                                "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"
                            }
                        ]
                    },
                    {
                        "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"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs543360994",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543360994"
                    },
                    {
                        "id": "rs543360994",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs543360994"
                    },
                    {
                        "id": "rs543360994",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs543360994"
                    },
                    {
                        "id": "rs543360994",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs543360994#frequency_tab"
                    },
                    {
                        "id": "rs543360994",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs543360994"
                    }
                ],
                "glycoeffect": [],
                "sequence_org": "A",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80107645",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A261",
                "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",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
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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",
                                "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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                            {
                                "id": "MONDO:0017694",
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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."
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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": "MONDO:0017694",
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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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                            {
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                            {
                                "id": "DOID:2752",
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                            {
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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": ""
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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": ""
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                            {
                                "id": "DOID:2752",
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                            {
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        "start_aa": "M",
        "up_seq": "YLALEDGGSAHGVFLLNSNA",
        "down_seq": "DVVLQPSPALSWRSTGGILD",
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            {
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                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
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                                "description": ""
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                                "description": ""
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                                "description": ""
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                                "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."
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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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                                "description": ""
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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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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
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                "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907937",
                "database": "dbSNP",
                "categories": [
                    "Other"
                ]
            },
            {
                "id": "rs121907937",
                "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907937",
                "database": "ExAC",
                "categories": [
                    "Other"
                ]
            },
            {
                "id": "rs121907937",
                "url": "https://www.ncbi.nlm.nih.gov/snp/rs121907937#frequency_tab",
                "database": "TOPMed",
                "categories": [
                    "Other"
                ]
            },
            {
                "id": "rs121907937",
                "url": "http://gnomad.broadinstitute.org/awesome?query=rs121907937",
                "database": "gnomAD",
                "categories": [
                    "Other"
                ]
            },
            {
                "id": "1898413",
                "url": "https://glygen.org/publication/PubMed/1898413",
                "database": "PubMed",
                "categories": [
                    "Other"
                ]
            },
            {
                "id": "rs121907937",
                "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121907937",
                "database": "COSMIC",
                "categories": [
                    "Other"
                ]
            },
            {
                "id": "rs1455277014",
                "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1455277014",
                "database": "dbSNP",
                "categories": [
                    "Other"
                ]
            },
            {
                "id": "rs1455277014",
                "url": "http://gnomad.broadinstitute.org/awesome?query=rs1455277014",
                "database": "gnomAD",
                "categories": [
                    "Other"
                ]
            },
            {
                "id": "rs2143874124",
                "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143874124",
                "database": "dbSNP",
                "categories": [
                    "Other"
                ]
            },
            {
                "id": "rs2479896089",
                "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2479896089",
                "database": "dbSNP",
                "categories": [
                    "Other"
                ]
            }
        ],
        "site_seq": "E",
        "start_aa": "E",
        "up_seq": "DMVAEFHDQVPFDGMWIDMN",
        "down_seq": "PSNFIRGSEDGCPNNELENP",
        "snv": [
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    },
                    {
                        "id": "rs121907937",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907937"
                    },
                    {
                        "id": "rs121907937",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907937"
                    },
                    {
                        "id": "rs121907937",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121907937#frequency_tab"
                    },
                    {
                        "id": "rs121907937",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121907937"
                    },
                    {
                        "id": "1898413",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/1898413"
                    },
                    {
                        "id": "rs121907937",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121907937"
                    }
                ],
                "glycoeffect": [],
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80110950",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E521",
                "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"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:9460",
                            "DOID:5166",
                            "DOID:2021",
                            "DOID:4114"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
                            }
                        ]
                    },
                    {
                        "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",
                                "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"
                            }
                        ]
                    },
                    {
                        "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",
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                                "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: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",
                                "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"
                            }
                        ]
                    },
                    {
                        "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"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs369098202",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369098202"
                    },
                    {
                        "id": "rs369098202",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369098202"
                    },
                    {
                        "id": "rs369098202",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs369098202#frequency_tab"
                    },
                    {
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                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Distal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Proximal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of the middle Third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal carcinoma, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal squamous cell carcinoma, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophagus neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophagus tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant oesophagus neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant oesophagus tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "oesophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca lower third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "Ca middle third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of distal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the middle third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of abdominal oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of distal third of oesophagus",
                                "description": ""
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                            {
                                "id": "MONDO:0007576",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the middle third of the oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MIM:133239",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133239",
                                "name": "Esophageal cancer",
                                "description": "Esophageal cancer"
                            }
                        ],
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                        ]
                    },
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                                "resource": "Disease Ontology",
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                                "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": ""
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                            {
                                "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",
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                                "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."
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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": ""
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                            {
                                "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",
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
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                            },
                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type II, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                    {
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
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        ],
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                        "start_pos": "447",
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        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs2039264895",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2039264895"
                    },
                    {
                        "id": "rs2039264895",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs2039264895#frequency_tab"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain"
                ],
                "sequence_org": "H",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (HWT->NWT); glycogene of type=glycogene, glycosylhydrolase.",
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                "chr_pos": "80112657",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
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                    {
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                            "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",
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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",
                                "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",
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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",
                                "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",
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                            },
                            {
                                "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",
                                "url": "https://monarchinitiative.org/disease/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",
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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",
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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",
                                "name": "glycogenosis type 2, infantile onset",
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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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                        ],
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                        "evidence": [
                            {
                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
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                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
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                        ]
                    }
                ],
                "keywords": [
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                    "disease"
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            },
            {
                "evidence": [
                    {
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                    },
                    {
                        "id": "rs760546238",
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                    {
                        "id": "rs760546238",
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                    },
                    {
                        "id": "rs760546238",
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                ],
                "glycoeffect": [],
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                "sequence_mut": "P",
                "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
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            },
            {
                "evidence": [
                    {
                        "id": "rs768397968",
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                    },
                    {
                        "id": "rs768397968",
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                    {
                        "id": "rs768397968",
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                    },
                    {
                        "id": "rs768397968",
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                ],
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                "sequence_org": "H",
                "sequence_mut": "Q",
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                            {
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                            {
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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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                                "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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                            {
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                ],
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            },
            {
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                                "id": "MONDO:0017694",
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        ],
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            {
                "title": "Molecular study on the infantile form of Pompe disease in Chinese in Taiwan.",
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            {
                "title": "Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.",
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            {
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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",
                                "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",
                                "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"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2510383864",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510383864"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss",
                    "o-glyco-site-loss"
                ],
                "sequence_org": "S",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NTS->NTA); glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80112947",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S654",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    },
                    {
                        "id": "rs1057518106",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057518106"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss",
                    "o-glyco-site-loss"
                ],
                "subjects_tested": "320",
                "subjects_positive": "1",
                "frequency": "0.3",
                "sequence_org": "S",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-loss (NTS->NTL); protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80112948",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "S654",
                "disease": [
                    {
                        "disease_id": "DOID:4362",
                        "recommended_name": {
                            "id": "DOID:4362",
                            "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",
                                "name": "cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4362",
                                "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",
                                "name": "neoplasm of uterine cervix",
                                "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",
                                "name": "malignant tumour of the uterine cervix",
                                "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"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            }
        ],
        "all_sites": [
            {
                "type": "glycosylation",
                "site_list": [
                    {
                        "start_pos": "140",
                        "end_pos": "140"
                    },
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                            {
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                            {
                                "id": "MONDO:0017694",
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                        "field": "n_linked_glycans",
                        "count": 82
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                        "field": "exact_sites",
                        "count": 23
                    },
                    {
                        "field": "exact_n_linked;o_linked_sites",
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                    },
                    {
                        "field": "exact_n_linked;o_linked_glycan_sites",
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                        "field": "exact_n_linked;o_linked_glycans",
                        "count": 6
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                        "count": 8
                    },
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                        "field": "exact_n_linked_glycan_sites",
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                    {
                        "field": "exact_n_linked_glycans",
                        "count": 82
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                        "field": "exact_o_linked_sites",
                        "count": 15
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                        "field": "exact_o_linked_glycan_sites",
                        "count": 14
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                        "field": "exact_sites",
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                    {
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                    {
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            {
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                        "field": "exact_n_linked_sites",
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            {
                "table_id": "phosphorylation",
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                "sort_fields": []
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            {
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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",
                                "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."
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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": ""
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                            {
                                "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",
                                "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": ""
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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",
                                "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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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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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"
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                                "id": "232300",
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                                "url": "https://www.omim.org/entry/232300"
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                                "description": ""
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                            {
                                "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": ""
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                            {
                                "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",
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                            {
                                "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",
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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",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
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                            {
                                "id": "MONDO:0005575",
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                                "name": "malignant tumor of large intestine",
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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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                                "name": "malignant tumour of the large bowel",
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                            {
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
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                            {
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                                "resource": "Disease Ontology",
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                                "id": "DOID:1319",
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                            {
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                                "name": "malignant tumor of Brain",
                                "description": ""
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "name": "primary brain neoplasm",
                                "description": ""
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1319",
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                            {
                                "id": "DOID:1319",
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                        ],
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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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                                "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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                                "id": "MONDO:0017694",
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            },
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                                "resource": "MONDO",
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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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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/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:0013631",
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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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                                "description": ""
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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",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "name": "GSD type 2, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                                "name": "GSD type II, infantile onset",
                                "description": ""
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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": "glycogen storage disease type 2, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
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                            {
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                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
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                                "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:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:9460",
                            "DOID:5166",
                            "DOID:2021",
                            "DOID:4114"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
                            }
                        ]
                    },
                    {
                        "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",
                                "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"
                            }
                        ]
                    },
                    {
                        "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"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1272217831",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272217831"
                    },
                    {
                        "id": "rs1272217831",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1272217831"
                    }
                ],
                "glycoeffect": [],
                "sequence_org": "D",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80118798",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D931",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            }
        ],
        "all_sites": [
            {
                "type": "glycosylation",
                "site_list": [
                    {
                        "start_pos": "140",
                        "end_pos": "140"
                    },
                    {
                        "start_pos": "142",
                        "end_pos": "142"
                    },
                    {
                        "start_pos": "144",
                        "end_pos": "144"
                    },
                    {
                        "start_pos": "149",
                        "end_pos": "149"
                    },
                    {
                        "start_pos": "151",
                        "end_pos": "151"
                    },
                    {
                        "start_pos": "153",
                        "end_pos": "153"
                    },
                    {
                        "start_pos": "233",
                        "end_pos": "233"
                    },
                    {
                        "start_pos": "286",
                        "end_pos": "286"
                    },
                    {
                        "start_pos": "390",
                        "end_pos": "390"
                    },
                    {
                        "start_pos": "41",
                        "end_pos": "66"
                    },
                    {
                        "start_pos": "447",
                        "end_pos": "447"
                    },
                    {
                        "start_pos": "465",
                        "end_pos": "479"
                    },
                    {
                        "start_pos": "46",
                        "end_pos": "46"
                    },
                    {
                        "start_pos": "470",
                        "end_pos": "470"
                    },
                    {
                        "start_pos": "52",
                        "end_pos": "52"
                    },
                    {
                        "start_pos": "61",
                        "end_pos": "61"
                    },
                    {
                        "start_pos": "652",
                        "end_pos": "652"
                    },
                    {
                        "start_pos": "80",
                        "end_pos": "80"
                    },
                    {
                        "start_pos": "882",
                        "end_pos": "882"
                    },
                    {
                        "start_pos": "883",
                        "end_pos": "883"
                    },
                    {
                        "start_pos": "884",
                        "end_pos": "884"
                    },
                    {
                        "start_pos": "924",
                        "end_pos": "924"
                    },
                    {
                        "start_pos": "925",
                        "end_pos": "925"
                    }
                ]
            },
            {
                "type": "mutagenesis",
                "site_list": [
                    {
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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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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
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                                "description": ""
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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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                            {
                                "id": "MONDO:0017694",
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                                "name": "Glycogenosis, type 2",
                                "description": ""
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                                "description": ""
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                                "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": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
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                            {
                                "id": "DOID:2752",
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                                "description": ""
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                            {
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                                "description": ""
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                            {
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                                "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."
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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",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
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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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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
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                            {
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                            {
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                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                                "description": ""
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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": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
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                                "description": ""
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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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                            {
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                            {
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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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                            {
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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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",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
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                            {
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                                "id": "DOID:2752",
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                                "description": ""
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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",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogen storage disease 2",
                                "description": ""
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                            {
                                "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."
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                                "id": "MONDO:0017694",
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                                "name": "GSD 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 type 2, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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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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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "DOID:2752",
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                            },
                            {
                                "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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                            {
                                "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."
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0017694",
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                                "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",
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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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                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "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",
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                                "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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                "categories": [
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                "database": "gnomAD",
                "categories": [
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            },
            {
                "id": "rs761311330",
                "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs761311330",
                "database": "COSMIC",
                "categories": [
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        ],
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        "start_aa": "Y",
        "up_seq": "FDCAPDKAITQEQCEARGCC",
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "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",
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                            {
                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
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                            },
                            {
                                "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": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
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                            {
                                "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": ""
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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": ""
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                            {
                                "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": ""
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                            {
                                "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": ""
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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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",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
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                            {
                                "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"
                            }
                        ],
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                                "database": "AGR",
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                            "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "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",
                                "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",
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
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                            {
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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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                            {
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                            {
                                "id": "MIM:232300",
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                                "url": "https://www.omim.org/entry/232300",
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                                "description": "Pompe disease, infantile-onset"
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                                "id": "232300",
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                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
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                ],
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        ],
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                        "end_pos": "140"
                    },
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                        "end_pos": "924"
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                    {
                        "start_pos": "925",
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                ]
            },
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                "type": "mutagenesis",
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                        "end_pos": "516"
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                        "end_pos": "518"
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            {
                "type": "snv",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "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."
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                                "id": "MONDO:0017694",
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                                "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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                                "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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                                "description": ""
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
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                                "id": "DOID:2752",
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                                "description": ""
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                            {
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                                "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": ""
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                            {
                                "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",
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                                "name": "glycogen storage disease type II",
                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "Glycogen storage disease 2",
                                "description": ""
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                            {
                                "id": "DOID:2752",
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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."
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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",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
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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",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
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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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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
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                                "description": "Pompe disease, infantile-onset"
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0012159",
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                            {
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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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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                                "description": ""
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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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                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                                "id": "MIM:232300",
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                        "field": "exact_sites",
                        "count": 21
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                    {
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                    {
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                "table_id": "glycosylation_automatic_literature_mining",
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                    {
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                    {
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            {
                "table_id": "phosphorylation",
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                    {
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                        "count": 0
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                ],
                "sort_fields": []
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            {
                "table_id": "snv",
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    },
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                "name": "Homo sapiens",
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                ],
                "common_name": "Human",
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            {
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                "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555598824",
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        ],
        "site_seq": "W",
        "start_aa": "W",
        "up_seq": "RGCCYIPAKQGLQGAQMGQP",
        "down_seq": "CFFPPSYPSYKLENLSSSEM",
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                    {
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                    {
                        "id": "rs1011631903",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1011631903#frequency_tab"
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                ],
                "glycoeffect": [],
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                "sequence_mut": "*",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
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                            "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": "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",
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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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                            {
                                "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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                                "id": "232300",
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                                "url": "https://www.omim.org/entry/232300"
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                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
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                        ]
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                ],
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            },
            {
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                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
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                "chr_id": "17",
                "chr_pos": "80104963",
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                "alt_nt": "null",
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                "site_lbl": "W126",
                "keywords": [
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            },
            {
                "evidence": [
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                        "id": "rs1555598824",
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                ],
                "glycoeffect": [],
                "sequence_org": "W",
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                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
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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",
                                "resource": "Disease Ontology",
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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",
                                "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",
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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",
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                                "id": "MONDO:0017694",
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                                "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",
                                "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",
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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": ""
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                            {
                                "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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "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",
                                "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": ""
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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",
                                "description": ""
                            },
                            {
                                "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",
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                                "description": "Pompe disease, infantile-onset"
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                                "id": "232300",
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            },
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                        "disease_id": "DOID:9256",
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:9256",
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                        "synonyms": [
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                                "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",
                                "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",
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                                "id": "DOID:2752",
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                                "name": "Generalized glycogenosis",
                                "description": ""
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                            {
                                "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": ""
                            },
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                            {
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1612",
                            "name": "breast cancer",
                            "description": "An organ system cancer that originates in the mammary gland."
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
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                                "description": ""
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
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                                "description": ""
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "malignant tumor of the breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "mammary cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "mammary tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "primary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "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",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of the breast",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
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                            {
                                "id": "MIM:114480",
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                                "url": "https://www.omim.org/entry/114480",
                                "name": "Breast cancer",
                                "description": "Breast cancer"
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                        "id": "rs1555598869",
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                            "url": "https://disease-ontology.org/term/DOID:2752",
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                            "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",
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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": ""
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                            {
                                "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": ""
                            },
                            {
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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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                                "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",
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                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
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                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
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                                "description": ""
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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."
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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",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
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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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                                "description": ""
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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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                                "description": ""
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                            {
                                "id": "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",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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                                "description": "Pompe disease, infantile-onset"
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1612",
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                            {
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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."
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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": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "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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                            {
                                "id": "MONDO:0016419",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "id": "MONDO:0016419",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
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                                "name": "hereditary breast carcinoma",
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                                "url": "https://www.omim.org/entry/114480",
                                "name": "Breast cancer",
                                "description": "Breast cancer"
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                            "DOID:0050938"
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                            "url": "https://disease-ontology.org/term/DOID:2752",
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                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "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": "rs781124934",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781124934"
                    },
                    {
                        "id": "rs781124934",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781124934"
                    },
                    {
                        "id": "rs781124934",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs781124934#frequency_tab"
                    },
                    {
                        "id": "rs781124934",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs781124934"
                    }
                ],
                "glycoeffect": [],
                "sequence_org": "R",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105047",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R154",
                "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"
                            }
                        ],
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                        "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"
                    },
                    {
                        "id": "rs781124934",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781124934"
                    },
                    {
                        "id": "rs781124934",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781124934"
                    },
                    {
                        "id": "rs781124934",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs781124934#frequency_tab"
                    },
                    {
                        "id": "rs781124934",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs781124934"
                    },
                    {
                        "id": "rs781124934",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs781124934"
                    }
                ],
                "glycoeffect": [],
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
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                "sequence_mut": "L",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
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                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R154",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1324",
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                            "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"
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            },
            {
                "evidence": [
                    {
                        "id": "rs781124934",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781124934"
                    },
                    {
                        "id": "rs781124934",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781124934"
                    },
                    {
                        "id": "rs781124934",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs781124934#frequency_tab"
                    },
                    {
                        "id": "rs781124934",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs781124934"
                    }
                ],
                "glycoeffect": [],
                "sequence_org": "R",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80105047",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R154",
                "disease": [
                    {
                        "disease_id": "DOID:2752",
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                            "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": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
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                                "description": ""
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                            {
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                                "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",
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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",
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                                "description": ""
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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."
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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",
                                "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": ""
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                            {
                                "id": "MONDO:0017694",
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                                "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",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
                            },
                            {
                                "id": "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",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "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",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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                                "description": "Pompe disease, infantile-onset"
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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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                                "url": "https://disease-ontology.org/term/DOID:2752",
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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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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2752",
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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": "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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                                "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": ""
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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",
                                "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": ""
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                            {
                                "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": ""
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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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",
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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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                                "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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                            {
                                "id": "MONDO:0017694",
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                                "name": "glycogen storage disease type II, infantile onset",
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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",
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                            {
                                "id": "MONDO:0017694",
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                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
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                                "name": "Generalized glycogenosis",
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                            {
                                "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": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                            {
                                "id": "MIM:603956",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/603956",
                                "name": "Cervical cancer",
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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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                                "description": ""
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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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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "glycogen storage disease type II",
                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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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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                                "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": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "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",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
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                                "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": ""
                            },
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                        "field": "exact_sites",
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                        "field": "exact_n_linked;o_linked_sites",
                        "count": 5
                    },
                    {
                        "field": "exact_n_linked;o_linked_glycan_sites",
                        "count": 5
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                        "field": "exact_n_linked;o_linked_glycans",
                        "count": 6
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                    {
                        "field": "exact_n_linked_sites",
                        "count": 8
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                        "field": "exact_n_linked_glycan_sites",
                        "count": 7
                    },
                    {
                        "field": "exact_n_linked_glycans",
                        "count": 82
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                        "field": "exact_o_linked_sites",
                        "count": 15
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                        "field": "exact_o_linked_glycan_sites",
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            },
            {
                "table_id": "glycosylation_reported_with_glycan",
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                        "count": 149
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                        "count": 21
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                        "count": 7
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                    {
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                        "count": 82
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                        "field": "o_linked_glycans",
                        "count": 2
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                        "field": "exact_sites",
                        "count": 21
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                    {
                        "field": "exact_n_linked;o_linked_sites",
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                        "field": "exact_n_linked;o_linked_glycan_sites",
                        "count": 5
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                        "field": "exact_n_linked;o_linked_glycans",
                        "count": 6
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                        "count": 7
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                    {
                        "field": "exact_n_linked_glycans",
                        "count": 82
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                        "count": 14
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                        "field": "exact_o_linked_glycan_sites",
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                        "field": "exact_o_linked_glycans",
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                        "count": 0
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                        "field": "exact_o_linked_sites",
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            {
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                        "count": 4
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                        "field": "exact_n_linked_sites",
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            {
                "table_id": "phosphorylation",
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        ]
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                                "url": "https://disease-ontology.org/term/DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "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": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "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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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
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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": ""
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "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",
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                            {
                                "id": "MONDO:0017694",
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                                "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",
                                "description": "Pompe disease, infantile-onset"
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                            "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."
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                                "id": "DOID:4159",
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                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
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                            {
                                "id": "DOID:4159",
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                                "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": ""
                            }
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                            "DOID:3451"
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                                "id": "4159",
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                    "cancer",
                    "disease"
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                        "start_pos": "652",
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                        "end_pos": "882"
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                        "start_pos": "883",
                        "end_pos": "883"
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                        "url": "https://www.uniprot.org/uniprotkb/P10253"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
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        ],
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "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."
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                            {
                                "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": ""
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                            {
                                "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",
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                                "description": ""
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                            {
                                "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",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
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                            {
                                "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": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of bladder",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the urinary bladder",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                                "name": "malignant urinary bladder tumour",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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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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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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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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                            {
                                "id": "DOID:2752",
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                            {
                                "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",
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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",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
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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",
                                "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",
                                "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",
                                "description": ""
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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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                                "name": "Pompe disease, infantile-onset",
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                                "description": ""
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
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                            {
                                "id": "DOID:2752",
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                                "description": ""
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                            {
                                "id": "DOID:2752",
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                            {
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                                "description": ""
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                            {
                                "id": "DOID:2752",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
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                                "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."
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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",
                                "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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                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
                            },
                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
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                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Glycogenosis, type 2",
                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
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                                "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",
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                                "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",
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                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "Glycogen storage disease 2",
                                "description": ""
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                            {
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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."
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                                "id": "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",
                                "name": "GSD type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
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                            {
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                                "description": ""
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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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                                "description": ""
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                            {
                                "id": "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",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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                                "url": "https://www.omim.org/entry/232300",
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                                "description": "Pompe disease, infantile-onset"
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0016419",
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                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs780799275"
                    }
                ],
                "glycoeffect": [],
                "subjects_tested": "720",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
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                "chr_pos": "80105812",
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                "alt_nt": "A",
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                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:10534",
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                            "description": "A gastrointestinal system cancer that is located_in the stomach."
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                        "synonyms": [
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10534",
                                "name": "gastric cancer",
                                "description": ""
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                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10534",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the stomach."
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca lesser curvature - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "GC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "cancer of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer risk after h. pylori infection",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of lesser curve of stomach",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of stomach",
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                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of the stomach",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant stomach neoplasm",
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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",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of body of stomach",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of the stomach",
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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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                            {
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                                "name": "Gastric cancer",
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                            {
                                "id": "10534",
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                            "url": "https://disease-ontology.org/term/DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "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": ""
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                            {
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                                "description": ""
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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",
                                "name": "deficiency of glucoamylase",
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                            {
                                "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."
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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": ""
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                            {
                                "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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
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                            {
                                "id": "MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "name": "glycogen storage disease type II, infantile onset",
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                            {
                                "id": "MONDO:0017694",
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                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                            {
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                            {
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                                "url": "https://www.omim.org/entry/232300",
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                                "description": "Pompe disease, infantile-onset"
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                "site_lbl": "A204",
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        ],
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                            "url": "https://disease-ontology.org/term/DOID:2752",
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                                "name": "Generalized glycogenosis",
                                "description": ""
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                            {
                                "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": ""
                            },
                            {
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                                "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."
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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",
                                "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": ""
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
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                            {
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                                "id": "DOID:2752",
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                            {
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                            {
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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."
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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",
                                "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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                                "id": "232300",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232300"
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                            {
                                "id": "2752",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
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                            {
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "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": ""
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                                "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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "GSD type II, infantile onset",
                                "description": ""
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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",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
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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": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
                            "name": "glycogen storage disease II",
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                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Generalized glycogenosis",
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                            },
                            {
                                "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",
                                "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": ""
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        "start_aa": "E",
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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": "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": ""
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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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                                "description": "Pompe disease, infantile-onset"
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                            {
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                            "url": "https://disease-ontology.org/term/DOID:9256",
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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": "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",
                                "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": [
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                                "id": "9256",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9256"
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                        ]
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                ],
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            },
            {
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                    {
                        "id": "rs201286896",
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                    },
                    {
                        "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": [],
                "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": [
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                        "recommended_name": {
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                            "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",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "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",
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                                "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",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
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                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
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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",
                                "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"
                            }
                        ],
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                        "evidence": [
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                                "id": "232300",
                                "database": "MIM",
                                "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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                    "somatic",
                    "cancer",
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                    "ebi"
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        ],
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
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                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "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",
                                "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",
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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",
                                "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": ""
                            },
                            {
                                "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",
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                                "description": ""
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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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                                "url": "https://disease-ontology.org/term/DOID:2752",
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                                "description": ""
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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": "glycogen storage disease type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
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                            {
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
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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",
                                "name": "GSD type II, infantile onset",
                                "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",
                                "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 2, infantile onset",
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
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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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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                            {
                                "id": "MIM:232300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
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                                "resource": "Disease Ontology",
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                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            {
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
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                            {
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                            {
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                            {
                                "id": "MONDO:0016419",
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                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
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                                "description": ""
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                            {
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                            {
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                                "name": "Breast cancer",
                                "description": "Breast cancer"
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "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",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "acid maltase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "deficiency of glucoamylase",
                                "description": ""
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                            {
                                "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": ""
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                            {
                                "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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                            {
                                "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",
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                                "id": "MONDO:0017694",
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                                "name": "GSD due to acid maltase deficiency, infantile onset",
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                                "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",
                                "name": "GSD type II, infantile onset",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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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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                            {
                                "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",
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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",
                                "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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                            {
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                            {
                                "id": "DOID:11934",
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                            {
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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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                            {
                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                                "id": "MONDO:0011270",
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                            {
                                "id": "MONDO:0011270",
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                                "id": "MONDO:0011270",
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                                "id": "MONDO:0012093",
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                                "id": "MONDO:0012093",
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                                "id": "MONDO:0012093",
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                                "id": "MONDO:0012093",
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                                "id": "MONDO:0012093",
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                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
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                                "id": "MONDO:0012094",
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                                "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"
                ]
            }
        ],
        "all_sites": [
            {
                "type": "glycosylation",
                "site_list": [
                    {
                        "start_pos": "140",
                        "end_pos": "140"
                    },
                    {
                        "start_pos": "142",
                        "end_pos": "142"
                    },
                    {
                        "start_pos": "144",
                        "end_pos": "144"
                    },
                    {
                        "start_pos": "149",
                        "end_pos": "149"
                    },
                    {
                        "start_pos": "151",
                        "end_pos": "151"
                    },
                    {
                        "start_pos": "153",
                        "end_pos": "153"
                    },
                    {
                        "start_pos": "233",
                        "end_pos": "233"
                    },
                    {
                        "start_pos": "286",
                        "end_pos": "286"
                    },
                    {
                        "start_pos": "390",
                        "end_pos": "390"
                    },
                    {
                        "start_pos": "41",
                        "end_pos": "66"
                    },
                    {
                        "start_pos": "447",
                        "end_pos": "447"
                    },
                    {
                        "start_pos": "465",
                        "end_pos": "479"
                    },
                    {
                        "start_pos": "46",
                        "end_pos": "46"
                    },
                    {
                        "start_pos": "470",
                        "end_pos": "470"
                    },
                    {
                        "start_pos": "52",
                        "end_pos": "52"
                    },
                    {
                        "start_pos": "61",
                        "end_pos": "61"
                    },
                    {
                        "start_pos": "652",
                        "end_pos": "652"
                    },
                    {
                        "start_pos": "80",
                        "end_pos": "80"
                    },
                    {
                        "start_pos": "882",
                        "end_pos": "882"
                    },
                    {
                        "start_pos": "883",
                        "end_pos": "883"
                    },
                    {
                        "start_pos": "884",
                        "end_pos": "884"
                    },
                    {
                        "start_pos": "924",
                        "end_pos": "924"
                    },
                    {
                        "start_pos": "925",
                        "end_pos": "925"
                    }
                ]
            },
            {
                "type": "mutagenesis",
                "site_list": [
                    {
                        "start_pos": "516",
                        "end_pos": "516"
                    },
                    {
                        "start_pos": "518",
                        "end_pos": "518"
                    }
                ]
            },
            {
                "type": "snv",
                "site_list": [
                    {
                        "start_pos": "142",
                        "end_pos": "142"
                    },
                    {
                        "start_pos": "884",
                        "end_pos": "884"
                    },
                    {
                        "start_pos": "140",
                        "end_pos": "140"
                    },
                    {
                        "start_pos": "149",
                        "end_pos": "149"
                    },
                    {
                        "start_pos": "151",
                        "end_pos": "151"
                    },
                    {
                        "start_pos": "153",
                        "end_pos": "153"
                    },
                    {
                        "start_pos": "168",
                        "end_pos": "168"
                    },
                    {
                        "start_pos": "190",
                        "end_pos": "190"
                    },
                    {
                        "start_pos": "235",
                        "end_pos": "235"
                    },
                    {
                        "start_pos": "261",
                        "end_pos": "261"
                    },
                    {
                        "start_pos": "270",
                        "end_pos": "270"
                    },
                    {
                        "start_pos": "272",
                        "end_pos": "272"
                    },
                    {
                        "start_pos": "286",
                        "end_pos": "286"
                    },
                    {
                        "start_pos": "292",
                        "end_pos": "292"
                    },
                    {
                        "start_pos": "318",
                        "end_pos": "318"
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                                "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",
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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."
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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",
                                "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": ""
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232300",
                                "name": "Pompe disease, infantile-onset",
                                "description": "Pompe disease, infantile-onset"
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                                "url": "https://www.omim.org/entry/232300"
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                                "id": "MONDO:0012094",
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                                "id": "MONDO:0012244",
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                                "id": "MONDO:0012244",
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                                "id": "MONDO:0012244",
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                                "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": [],
                "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."
                        },
                        "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",
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "Glycogenosis, type 2",
                                "description": ""
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                                "description": ""
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                            {
                                "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": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "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": ""
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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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                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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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:11054",
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                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "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",
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                                "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",
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                            },
                            {
                                "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",
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                                "name": "malignant tumor of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                                "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",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                                "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",
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                                "description": "Bladder cancer"
                            }
                        ],
                        "unlinked_id_list": [],
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                                "id": "11054",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11054"
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                        ]
                    },
                    {
                        "disease_id": "DOID:2531",
                        "recommended_name": {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2531",
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                        },
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                                "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",
                                "url": "https://disease-ontology.org/term/DOID:2531",
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                                "description": ""
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                                "id": "DOID:2531",
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                            {
                                "id": "DOID:2531",
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                            {
                                "id": "DOID:2531",
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                            "DOID:7757",
                            "DOID:0050743",
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                                "description": ""
                            },
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                            {
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                                "name": "deficiency of maltase",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
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                                "description": ""
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                            {
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                                "name": "Glycogen storage disease 2",
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                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "description": ""
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                            {
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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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                                "name": "malignant neoplasm of skin",
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                            {
                                "id": "DOID:4159",
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                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
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                            "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",
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                        "count": 2
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                ],
                "sort_fields": [
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                    "sequence_mut",
                    "comment",
                    "chr_id",
                    "chr_pos",
                    "ref_nt",
                    "alt_nt",
                    "minor_allelic_frequency",
                    "site_lbl"
                ]
            },
            {
                "table_id": "snv_non_disease",
                "table_stats": [
                    {
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                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "publication",
                "table_stats": [
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                        "count": 177
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                ],
                "sort_fields": [
                    "title",
                    "journal",
                    "date",
                    "authors"
                ]
            }
        ]
    },
    {
        "id": "P10253-1.243.243",
        "start_pos": 243,
        "end_pos": 243,
        "uniprot_canonical_ac": "P10253-1",
        "length": 952,
        "uniprot_id": "LYAG_HUMAN",
        "protein_name": "Lysosomal alpha-glucosidase",
        "refseq_ac": "NP_000143",
        "refseq_name": "lysosomal alpha-glucosidase preproprotein",
        "gene_name": "GAA",
        "gene_names_uniprotkb": "GAA",
        "gene_names_refseq": "GAA; IOPD; LOPD; LYAG",
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P10253",
                        "url": "https://www.uniprot.org/uniprotkb/P10253"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "publication": [],
        "crossref": [
            {
                "id": "rs2510357510",
                "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510357510",
                "database": "dbSNP",
                "categories": [
                    "Other"
                ]
            },
            {
                "id": "P10253",
                "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253",
                "database": "BioMuta",
                "categories": [
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            },
            {
                "id": "rs1555599600",
                "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555599600",
                "database": "dbSNP",
                "categories": [
                    "Other"
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            },
            {
                "id": "rs1555599600",
                "url": "https://www.ensembl.org/id/rs1555599600",
                "database": "ENSEMBL",
                "categories": [
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                ]
            }
        ],
        "site_seq": "D",
        "start_aa": "D",
        "up_seq": "RRQLDGRVLLNTTVAPLFFA",
        "down_seq": "QFLQLSTSLPSQYITGLAEH",
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs2510357510",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510357510"
                    }
                ],
                "glycoeffect": [],
                "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"
                            }
                        ],
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                        "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": [],
                "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).",
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                "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": [],
                "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",
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                        "count": 21
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                        "field": "exact_sites",
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                                "id": "DOID:2752",
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                            {
                                "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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                                "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",
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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",
                                "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",
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                                "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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                            },
                            {
                                "id": "DOID:2752",
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                            {
                                "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."
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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": ""
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                            {
                                "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",
                                "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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                            {
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                                "id": "MONDO:0017694",
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                            "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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                                "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",
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                                "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."
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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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                                "description": ""
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                            {
                                "id": "DOID:2752",
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                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
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                                "description": ""
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "MONDO:0017694",
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                        "field": "o_linked_glycans",
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                    "site_category",
                    "site_seq",
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                    "comment",
                    "start_pos",
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                    "site_lbl",
                    "mining_tool",
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                    "icn3d_view.url"
                ]
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
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                    {
                        "field": "total",
                        "count": 149
                    },
                    {
                        "field": "total_sites",
                        "count": 21
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                        "field": "n_linked_sites",
                        "count": 7
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                        "field": "exact_sites",
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                        "field": "exact_n_linked;o_linked_sites",
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                    },
                    {
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                        "count": 5
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                        "field": "exact_n_linked;o_linked_glycans",
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                        "count": 7
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                    {
                        "field": "exact_n_linked_glycan_sites",
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                        "field": "exact_n_linked_glycans",
                        "count": 82
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                        "field": "exact_o_linked_glycans",
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            {
                "table_id": "glycosylation_automatic_literature_mining",
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                    {
                        "field": "exact_n_linked_sites",
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            {
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                            },
                            {
                                "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": ""
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                            {
                                "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."
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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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                                "description": ""
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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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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
                                "id": "MONDO:0017694",
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                                "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",
                                "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",
                                "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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                                "id": "232300",
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                "keywords": [
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        ],
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                "type": "glycosylation",
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                        "end_pos": "140"
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                        "start_pos": "233",
                        "end_pos": "233"
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                        "end_pos": "884"
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                        "start_pos": "924",
                        "end_pos": "924"
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                    {
                        "start_pos": "925",
                        "end_pos": "925"
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                ]
            },
            {
                "type": "mutagenesis",
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                        "start_pos": "516",
                        "end_pos": "516"
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                    {
                        "start_pos": "518",
                        "end_pos": "518"
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            },
            {
                "type": "snv",
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                        "start_pos": "286",
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                    {
                        "start_pos": "292",
                        "end_pos": "292"
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                            "url": "https://disease-ontology.org/term/DOID:2752",
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                                "name": "Generalized glycogenosis",
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                            {
                                "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": ""
                            },
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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",
                                "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",
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                                "id": "DOID:2752",
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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",
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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",
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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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                                "id": "MONDO:0017694",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
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                "categories": [
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            },
            {
                "id": "rs201896815",
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                "database": "gnomAD",
                "categories": [
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        ],
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        "start_aa": "E",
        "up_seq": "ADQFLQLSTSLPSQYITGLA",
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                "sequence_mut": "A",
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                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
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                "chr_pos": "80107648",
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                "site_lbl": "E262",
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                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult malignant brain neoplasm",
                                "description": ""
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                            {
                                "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",
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "name": "malignant tumor of Brain",
                                "description": ""
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:363",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
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                                "description": ""
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                                "name": "Tumour of uterus",
                                "description": ""
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                            {
                                "id": "DOID:363",
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                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:5166",
                            "DOID:2021",
                            "DOID:4114"
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2752",
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                                "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": "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",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "alpha-1,4-glucosidase acid deficiency, infantile onset",
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                            },
                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "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": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
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                            },
                            {
                                "id": "MONDO:0017694",
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                                "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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                                "id": "232300",
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                                "url": "https://www.omim.org/entry/232300"
                            },
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                                "id": "2752",
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                                "url": "https://www.alliancegenome.org/disease/DOID:2752"
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                ],
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            }
        ],
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                "sequence_org": "H",
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                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
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                            "resource": "Disease Ontology",
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                            {
                                "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": ""
                            },
                            {
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                                "name": "Pompe's disease",
                                "description": ""
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                                "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",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "Glycogen storage disease 2",
                                "description": ""
                            },
                            {
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                                "name": "Pompe disease",
                                "description": ""
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                                "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."
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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",
                                "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": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "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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                                "description": ""
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                            {
                                "id": "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",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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                                "url": "https://www.omim.org/entry/232300",
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                                "description": "Pompe disease, infantile-onset"
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                                "description": ""
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                            {
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                                "url": "https://disease-ontology.org/term/DOID:2752",
                                "name": "Pompe's disease",
                                "description": ""
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                            {
                                "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": ""
                            },
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                                "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."
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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",
                                "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": ""
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                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "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",
                                "name": "glycogen storage disease type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
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                                "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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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type 2, infantile onset",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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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": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                                "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",
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                                "description": ""
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                            {
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                                "description": ""
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                            {
                                "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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                                "description": ""
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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."
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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",
                                "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": ""
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                            {
                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "Pompe disease, infantile onset",
                                "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",
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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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0017694",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
                                "name": "glycogenosis due to acid maltase deficiency, infantile onset",
                                "description": ""
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                            {
                                "id": "MONDO:0017694",
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                                "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",
                                "name": "glycogenosis type II, infantile onset",
                                "description": ""
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                                "url": "https://www.omim.org/entry/232300",
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                                "description": "Pompe disease, infantile-onset"
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                                "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."
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                                "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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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "id": "MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0017694",
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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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                            {
                                "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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                                "url": "https://disease-ontology.org/term/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": "DOID:2752",
                                "resource": "Disease Ontology",
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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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                                "id": "MONDO:0017694",
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                                "id": "MONDO:0017694",
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                            {
                                "id": "DOID:2752",
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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",
                                "resource": "Disease Ontology",
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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": "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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                            {
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                            {
                                "id": "MONDO:0017694",
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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",
                                "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",
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                                "description": ""
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                            {
                                "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",
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                                "description": ""
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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",
                                "name": "GSD type II, infantile onset",
                                "description": ""
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                            {
                                "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": "rs147569830",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147569830"
                    },
                    {
                        "id": "rs147569830",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147569830"
                    },
                    {
                        "id": "rs147569830",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147569830"
                    },
                    {
                        "id": "rs147569830",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs147569830#frequency_tab"
                    },
                    {
                        "id": "rs147569830",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs147569830"
                    }
                ],
                "glycoeffect": [],
                "sequence_org": "A",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80107715",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000196232",
                "site_lbl": "A284",
                "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"
                    },
                    {
                        "id": "rs760016684",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760016684"
                    },
                    {
                        "id": "rs760016684",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760016684"
                    },
                    {
                        "id": "rs760016684",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs760016684"
                    }
                ],
                "glycoeffect": [],
                "subjects_tested": "9251",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80107714",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "A284",
                "disease": [
                    {
                        "disease_id": "DOID:2531",
                        "recommended_name": {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic malignancy",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematological tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "blood cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0081452",
                            "DOID:706",
                            "DOID:1039",
                            "DOID:5604",
                            "DOID:6536",
                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:0050743",
                            "DOID:4960",
                            "DOID:8527",
                            "DOID:1036",
                            "DOID:5772"
                        ],
                        "evidence": [
                            {
                                "id": "2531",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2531"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P10253",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P10253"
                    },
                    {
                        "id": "rs147569830",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147569830"
                    },
                    {
                        "id": "rs147569830",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs147569830"
                    },
                    {
                        "id": "rs147569830",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147569830"
                    },
                    {
                        "id": "rs147569830",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs147569830#frequency_tab"
                    },
                    {
                        "id": "rs147569830",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs147569830"
                    }
                ],
                "glycoeffect": [],
                "subjects_tested": "0",
                "subjects_positive": "0",
                "frequency": "0.0",
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "17",
                "chr_pos": "80107715",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "A284",
                "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"
                ]
            }
        ],
        "all_sites": [
            {
                "type": "glycosylation",
                "site_list": [
                    {
                        "start_pos": "140",
                        "end_pos": "140"
                    },
                    {
                        "start_pos": "142",
                        "end_pos": "142"
                    },
                    {
                        "start_pos": "144",
                        "end_pos": "144"
                    },
                    {
                        "start_pos": "149",
                        "end_pos": "149"
                    },
                    {
                        "start_pos": "151",
                        "end_pos": "151"
                    },
                    {
                        "start_pos": "153",
                        "end_pos": "153"
                    },
                    {
                        "start_pos": "233",
                        "end_pos": "233"
                    },
                    {
                        "start_pos": "286",
                        "end_pos": "286"
                    },
                    {
                        "start_pos": "390",
                        "end_pos": "390"
                    },
                    {
                        "start_pos": "41",
                        "end_pos": "66"
                    },
                    {
                        "start_pos": "447",
                        "end_pos": "447"
                    },
                    {
                        "start_pos": "465",
                        "end_pos": "479"
                    },
                    {
                        "start_pos": "46",
                        "end_pos": "46"
                    },
                    {
                        "start_pos": "470",
                        "end_pos": "470"
                    },
                    {
                        "start_pos": "52",
                        "end_pos": "52"
                    },
                    {
                        "start_pos": "61",
                        "end_pos": "61"
                    },
                    {
                        "start_pos": "652",
                        "end_pos": "652"
                    },
                    {
                        "start_pos": "80",
                        "end_pos": "80"
                    },
                    {
                        "start_pos": "882",
                        "end_pos": "882"
                    },
                    {
                        "start_pos": "883",
                        "end_pos": "883"
                    },
                    {
                        "start_pos": "884",
                        "end_pos": "884"
                    },
                    {
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                                "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": "rs1289916206",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1289916206"
                    },
                    {
                        "id": "rs1289916206",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1289916206"
                    }
                ],
                "glycoeffect": [],
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80107801",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P287",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs369735511",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369735511"
                    },
                    {
                        "id": "rs369735511",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369735511"
                    },
                    {
                        "id": "rs369735511",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs369735511#frequency_tab"
                    },
                    {
                        "id": "rs369735511",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs369735511"
                    }
                ],
                "glycoeffect": [],
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "17",
                "chr_pos": "80107800",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P287",
                "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": [],
                "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": "80107800",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "P287",
                "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"
                ]
            }
        ],
        "all_sites": [
            {
                "type": "glycosylation",
                "site_list": [
                    {
                        "start_pos": "140",
                        "end_pos": "140"
                    },
                    {
                        "start_pos": "142",
                        "end_pos": "142"
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                        "start_pos": "149",
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                    {
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                        "end_pos": "153"
                    },
                    {
                        "start_pos": "233",
                        "end_pos": "233"
                    },
                    {
                        "start_pos": "286",
                        "end_pos": "286"
                    },
                    {
                        "start_pos": "390",
                        "end_pos": "390"
                    },
                    {
                        "start_pos": "41",
                        "end_pos": "66"
                    },
                    {
                        "start_pos": "447",
                        "end_pos": "447"
                    },
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                        "start_pos": "465",
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                    },
                    {
                        "start_pos": "46",
                        "end_pos": "46"
                    },
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                            {
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                                "id": "DOID:2752",
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                            {
                                "id": "DOID:2752",
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                                "description": ""
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                            {
                                "id": "DOID:2752",
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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",
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                                "id": "MONDO:0017694",
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                                "name": "Glycogen storage disease, type II",
                                "description": ""
                            },
                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "name": "Glycogenosis, type 2",
                                "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": ""
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                            {
                                "id": "DOID:2752",
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                                "description": ""
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                                "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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                                "description": ""
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                            {
                                "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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                                "url": "https://disease-ontology.org/term/DOID:2752",
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                            {
                                "id": "DOID:2752",
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                            {
                                "id": "MONDO:0017694",
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                                "description": ""
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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",
                                "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": ""
                            },
                            {
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                            "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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                                "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",
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                        "disease_id": "DOID:2752",
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                            "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": ""
                            },
                            {
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                            {
                                "id": "DOID:4159",
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                            {
                                "id": "DOID:4159",
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                            {
                                "id": "DOID:2752",
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                            {
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                            {
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                            {
                                "id": "DOID:2752",
                                "resource": "Disease Ontology",
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                                "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": ""
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