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                "glycoeffect": [],
                "start_pos": 227,
                "end_pos": 227,
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99870415",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W227",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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            },
            {
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                "end_pos": 229,
                "sequence_org": "Q",
                "sequence_mut": "R",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "1",
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                            {
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
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            {
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                "glycoeffect": [],
                "start_pos": 22,
                "end_pos": 22,
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99851106",
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                "minor_allelic_frequency": "",
                "site_lbl": "L22",
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                        "id": "rs762204351",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs762204351"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 22,
                "end_pos": 22,
                "sequence_org": "L",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99851106",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L22",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "glycogenosis type 3",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "id": "MONDO:0009291",
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                            },
                            {
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
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                            {
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                "start_pos": 230,
                "end_pos": 230,
                "sequence_org": "E",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
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                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E230",
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                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
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                        ],
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                        "evidence": [
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                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
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                            {
                                "id": "2748",
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                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
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                    "disease"
                ]
            },
            {
                "evidence": [
                    {
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P35573"
                    },
                    {
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                    {
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                    },
                    {
                        "id": "rs1650891322",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1650891322"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 230,
                "end_pos": 230,
                "subjects_tested": "1773",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
                "chr_id": "1",
                "chr_pos": "99870423",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E230",
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                            {
                                "id": "DOID:5041",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "DOID:5041",
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                                "name": "malignant tumor of the middle Third of the esophagus",
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                            {
                                "id": "MONDO:0007576",
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                                "name": "esophageal cancer",
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                            {
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
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                            {
                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
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                            {
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            },
                            {
                                "id": "MONDO:0007576",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                                "name": "Ca lower third oesophagus",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of lower third of esophagus",
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                                "description": ""
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of esophagus",
                                "description": ""
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007576",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007576",
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                                "description": ""
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                            {
                                "id": "MONDO:0007576",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                                "description": ""
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "gastric cardia adenocarcinoma, susceptibility to",
                                "description": ""
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                            {
                                "id": "MIM:133239",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133239",
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                                "description": "Esophageal cancer"
                            }
                        ],
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                        ]
                    },
                    {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
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                            "description": "A respiratory system cancer that is located_in the lung."
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "description": ""
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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",
                                "name": "lung cancer",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
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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": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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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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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "id": "MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                                "id": "MONDO:0013631",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "id": "MONDO:0001056",
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                "site_lbl": "C234",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1571242911"
                    },
                    {
                        "id": "rs1571242911",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1571242911"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 235,
                "end_pos": 235,
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99870438",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A235",
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                            {
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
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            },
            {
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                "subjects_positive": "2",
                "frequency": "0.1",
                "sequence_org": "A",
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                "alt_nt": "T",
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "name": "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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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "id": "DOID:1319",
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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": "primary malignant neoplasm of brain",
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                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                            "DOID:368",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
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                                "id": "MONDO:0009291",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
                        },
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                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "description": ""
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            },
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
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                                "id": "MONDO:0009291",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
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                            {
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                        ]
                    },
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                            },
                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2748",
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                            },
                            {
                                "id": "DOID:2748",
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                            },
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                "minor_allelic_frequency": "",
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                            {
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1319",
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                                "description": ""
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                            {
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
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                        "evidence": [
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                            {
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                            }
                        ]
                    },
                    {
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                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
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                    }
                ],
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            },
            {
                "evidence": [
                    {
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                    {
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                ],
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                "end_pos": 247,
                "sequence_org": "A",
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            {
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                ],
                "glycoeffect": [],
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                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "alt_nt": "T",
                "minor_allelic_frequency": "",
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                    {
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
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                            },
                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "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",
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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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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
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                            {
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                            }
                        ]
                    },
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                                "description": ""
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
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                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
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                            },
                            {
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                                "resource": "MONDO",
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                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
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                            },
                            {
                                "id": "MONDO:0009291",
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                                "description": ""
                            },
                            {
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
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            {
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                "minor_allelic_frequency": "",
                "site_lbl": "R24",
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "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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                                "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",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "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": ""
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
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                                "name": "malignant tumour of the 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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                                "description": ""
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                "end_pos": 24,
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                "minor_allelic_frequency": "",
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                            {
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                            {
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                            {
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                            {
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                                "id": "MONDO:0009291",
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            {
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                "start_pos": 24,
                "end_pos": 24,
                "sequence_org": "R",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
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                "ref_nt": "C",
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                "minor_allelic_frequency": "",
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                                "id": "DOID:2748",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
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                            },
                            {
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                            {
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                ],
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            },
            {
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                ],
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                "start_pos": 252,
                "end_pos": 252,
                "sequence_org": "R",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99870489",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R252",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
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                            {
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                "end_pos": 253,
                "sequence_org": "A",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "minor_allelic_frequency": "",
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                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs762988561"
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                ],
                "glycoeffect": [],
                "start_pos": 255,
                "end_pos": 255,
                "sequence_org": "W",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99870498",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W255",
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                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
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                            },
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                            },
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                            },
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                            },
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                            },
                            {
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
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            },
            {
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs757347826"
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                ],
                "glycoeffect": [],
                "start_pos": 256,
                "end_pos": 256,
                "subjects_tested": "320",
                "subjects_positive": "1",
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                "sequence_org": "R",
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                "chr_pos": "99870501",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R256",
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                            {
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0002974",
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "tumor of the cervix uteri",
                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "tumour of the cervix uteri",
                                "description": ""
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                "end_pos": 256,
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                "subjects_positive": "1",
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                "sequence_mut": "H",
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                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
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                ],
                "glycoeffect": [],
                "start_pos": 256,
                "end_pos": 256,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
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                "sequence_mut": "L",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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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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                                "description": ""
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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",
                                "name": "malignant lung neoplasm",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "id": "MONDO:0008903",
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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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                            {
                                "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": "malignant tumour of the lung",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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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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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "description": ""
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                            {
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
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                    },
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                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
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            },
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                "end_pos": 257,
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
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                        ],
                        "unlinked_id_list": [],
                        "evidence": [
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                            {
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                "sequence_mut": "R",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                                "id": "MONDO:0009291",
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                                "id": "DOID:2748",
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                            {
                                "id": "DOID:2748",
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                            {
                                "id": "DOID:2748",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
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                            {
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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            },
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                "end_pos": 261,
                "sequence_org": "V",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
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                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "V261",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
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                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
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                                "description": "Glycogen storage disease 3"
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                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
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                            {
                                "id": "2748",
                                "database": "AGR",
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                        ]
                    }
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            },
            {
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            {
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                        "id": "",
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                            {
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                            {
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                            {
                                "id": "MONDO:0008903",
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                            {
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                            {
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/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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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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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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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                                "id": "MONDO:0012159",
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                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                "keywords": [
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                ]
            },
            {
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                    {
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                ],
                "glycoeffect": [
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                "start_pos": 265,
                "end_pos": 265,
                "sequence_org": "K",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99870530",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K265",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Gde deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen Debrancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIID",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease IIIb",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232400",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232400",
                                "name": "Glycogen storage disease 3",
                                "description": "Glycogen storage disease 3"
                            }
                        ],
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                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
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            },
            {
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "minor_allelic_frequency": "",
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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",
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                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "name": "colon cancer, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "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",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "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": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "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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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "name": "malignant tumor of the large bowel",
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                            },
                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                            }
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            },
            {
                "evidence": [
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                        "id": "rs2524559797",
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                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
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                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
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                            {
                                "id": "DOID:2748",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "Glycogen storage disease 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "AGL glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Cori-Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "Forbes disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GDE deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSD type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "GSDIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                    },
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                            {
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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            },
            {
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                                "name": "melanoma and Non-melanoma skin cancer",
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                        ],
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                            "description": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."
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                            {
                                "id": "DOID:2748",
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                                "description": ""
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                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2748",
                                "name": "amylo 1,6 glucosidase deficiency",
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                            {
                                "id": "DOID:2748",
                                "resource": "Disease Ontology",
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                                "resource": "Disease Ontology",
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                            {
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                                "description": "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy."
                            },
                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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            {
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                "minor_allelic_frequency": "",
                "site_lbl": "G270",
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                            {
                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            },
                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            },
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                            },
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                            },
                            {
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                            },
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                                "description": ""
                            },
                            {
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            },
            {
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                "start_pos": 270,
                "end_pos": 270,
                "sequence_org": "G",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99870544",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G270",
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                                "id": "MONDO:0009291",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo 1,6 glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "amylo-1,6-glucosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of debranching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "deficiency of dextrin",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease caused by mutation in AGL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogen storage disease, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis due to glycogen debranching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "glycogenosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009291",
                                "name": "limit dextrinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                                "name": "Agl deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                                "resource": "MIM",
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                            },
                            {
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                            },
                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            {
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                            },
                            {
                                "id": "MONDO:0007972",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007972",
                                "name": "Meniere disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007972",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007972",
                                "name": "Mnire's vertigo",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007972",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007972",
                                "name": "otogenic vertigo",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007972",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007972",
                                "name": "Meniere's disease",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "9849",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:9849"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            }
        ]
    }
}
