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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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                                "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",
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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",
                                "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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                                "description": ""
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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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                            {
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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",
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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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                                "description": ""
                            },
                            {
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                            },
                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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                            },
                            {
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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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            },
            {
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                "glycoeffect": [],
                "start_pos": 991,
                "end_pos": 991,
                "sequence_org": "M",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99891628",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "M991",
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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": "GSD 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",
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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",
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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": "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",
                                "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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                                "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",
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                                "id": "MONDO:0009291",
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                                "id": "MONDO:0009291",
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                                "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": ""
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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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                            {
                                "id": "MONDO:0009291",
                                "resource": "MONDO",
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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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                            {
                                "id": "MONDO:0001056",
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                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001056",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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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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                            {
                                "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",
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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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                            {
                                "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 type III",
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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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                            {
                                "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",
                                "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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                                "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"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1648909681",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1648909681"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 9,
                "end_pos": 9,
                "sequence_org": "I",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "1",
                "chr_pos": "99851066_99851067",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I9",
                "disease": [
                    {
                        "disease_id": "DOID:2748",
                        "recommended_name": {
                            "id": "DOID:2748",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2748",
                            "name": "glycogen storage disease III",
                            "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."
                        },
                        "synonyms": [
                            {
                                "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",
                                "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"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232400",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232400"
                            },
                            {
                                "id": "2748",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2748"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            }
        ]
    }
}
