{
    "batchid": 9,
    "recordid": "Q04446-1",
    "recordtype": "protein",
    "sections": {
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            {
                "evidence": [
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                ],
                "glycoeffect": [],
                "start_pos": 628,
                "end_pos": 628,
                "sequence_org": "H",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81535246",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "H628",
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                            {
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                            {
                                "id": "MONDO:0009292",
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                            {
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                                "description": ""
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                            {
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "deficiency of 1,4-alpha-glucan branching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease caused by mutation in GBE1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease, type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type IV",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, classic hepatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, adult, with isolated myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009292",
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                                "description": ""
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "resource": "MIM",
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                                "name": "Glycogen storage disease 4",
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                "end_pos": 636,
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                "sequence_mut": "H",
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                "chr_pos": "81535223",
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                "minor_allelic_frequency": "",
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            {
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                "end_pos": 637,
                "subjects_tested": "2053",
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                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:2750",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GBE1 glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD due to glycogen branching enzyme deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "brancher deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "branching-transferase deficiency glycogenosis",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "deficiency of 1,4-alpha-glucan branching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease caused by mutation in GBE1",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            },
                            {
                                "id": "MONDO:0009292",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
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                                "id": "MONDO:0009292",
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                            {
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                                "description": ""
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                            {
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                            {
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232500",
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                                "description": "Glycogen storage disease 4"
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                            {
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                    },
                    {
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                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            },
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                                "id": "MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "DOID:2750",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, classic hepatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, adult, with isolated myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, childhood",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, congenital",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, fatal perinatal",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, nonprogressive hepatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Gbe1 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "brancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "cirrhosis, familial, with deposition of abnormal glycogen",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis 4",
                                "description": ""
                            },
                            {
                                "id": "MIM:232500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232500",
                                "name": "Glycogen storage disease 4",
                                "description": "Glycogen storage disease 4"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232500"
                            },
                            {
                                "id": "2750",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2750"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q04446",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q04446"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 638,
                "end_pos": 638,
                "subjects_tested": "4177",
                "subjects_positive": "2",
                "frequency": "0.0",
                "sequence_org": "V",
                "sequence_mut": "F",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "3",
                "chr_pos": "81535217",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "V638",
                "disease": [
                    {
                        "disease_id": "DOID:10283",
                        "recommended_name": {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate cancer",
                            "description": "A male reproductive organ cancer that is located_in the prostate."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "NGP - new growth of prostate",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "hereditary prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "malignant tumor of the prostate",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "prostate cancer, familial",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "prostate neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "prostatic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "prostatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "tumor of the prostate",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer, hereditary, X-linked 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "HPCX1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer, hereditary, X-linked 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer susceptibility, X-linked",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "prostate cancer, hereditary, X-linked 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "HPCX2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "prostate cancer, hereditary, X-linked 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "RNASEL familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "familial prostate cancer caused by mutation in RNASEL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "HPC1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "Prca1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, type 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "HPC8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "predisposing for prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, susceptibility to, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "HPC3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, susceptibility to, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "HPC4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, on chromosome 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "HPC5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, type 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "HPC6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "HPC7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer aggressiveness",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, type 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "HPC9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "HPC10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "EHBP1 familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "familial prostate cancer caused by mutation in EHBP1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, type 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "HPC12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "MSMB familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "familial prostate cancer caused by mutation in MSMB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, type 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "HPC13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "HPC11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "HPC14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "HPC15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0700275",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0700275",
                                "name": "prostate cancer, hereditary",
                                "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents."
                            },
                            {
                                "id": "MIM:601518",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/601518",
                                "name": "Prostate cancer, hereditary, 1",
                                "description": "Prostate cancer, hereditary, 1"
                            },
                            {
                                "id": "MIM:610997",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610997",
                                "name": "Prostate cancer, hereditary, 9",
                                "description": "Prostate cancer, hereditary, 9"
                            },
                            {
                                "id": "MIM:611868",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611868",
                                "name": "Prostate cancer, hereditary, 12",
                                "description": "Prostate cancer, hereditary, 12"
                            },
                            {
                                "id": "MIM:611928",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611928",
                                "name": "Prostate cancer, hereditary, 13",
                                "description": "Prostate cancer, hereditary, 13"
                            },
                            {
                                "id": "MIM:611955",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611955",
                                "name": "Prostate cancer, hereditary, 11",
                                "description": "Prostate cancer, hereditary, 11"
                            },
                            {
                                "id": "MIM:176807",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/176807",
                                "name": "Prostate cancer",
                                "description": "Prostate cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10283",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10283"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q04446",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q04446"
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 639,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "G",
                "sequence_mut": "V",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "3",
                "chr_pos": "81535213",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "G639",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1374029130",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374029130"
                    },
                    {
                        "id": "rs1374029130",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1374029130"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 640,
                "end_pos": 640,
                "sequence_org": "T",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81535210",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T640",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs767133103",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767133103"
                    },
                    {
                        "id": "rs767133103",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767133103"
                    },
                    {
                        "id": "rs767133103",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs767133103"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 641,
                "end_pos": 641,
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81535208",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A641",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs756753229",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756753229"
                    },
                    {
                        "id": "rs756753229",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756753229"
                    },
                    {
                        "id": "rs756753229",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs756753229#frequency_tab"
                    },
                    {
                        "id": "rs756753229",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs756753229"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 645,
                "end_pos": 645,
                "sequence_org": "K",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81499227",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K645",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1039372291",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1039372291"
                    },
                    {
                        "id": "rs1039372291",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1039372291"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 647,
                "end_pos": 647,
                "sequence_org": "K",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81499221",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K647",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs750953059",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750953059"
                    },
                    {
                        "id": "rs750953059",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750953059"
                    },
                    {
                        "id": "rs750953059",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs750953059"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 647,
                "end_pos": 647,
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81499222",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K647",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1251402019",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1251402019"
                    },
                    {
                        "id": "rs1251402019",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1251402019"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 648,
                "end_pos": 648,
                "sequence_org": "I",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81499219",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I648",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs768079971",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768079971"
                    },
                    {
                        "id": "rs768079971",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768079971"
                    },
                    {
                        "id": "rs768079971",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs768079971"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 648,
                "end_pos": 648,
                "sequence_org": "I",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81499220",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "I648",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1338424154",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1338424154"
                    },
                    {
                        "id": "rs1338424154",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1338424154"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 64,
                "end_pos": 64,
                "sequence_org": "G",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81705566",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G64",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1702554034",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1702554034"
                    },
                    {
                        "id": "rs1702554034",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1702554034"
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                ],
                "glycoeffect": [],
                "start_pos": 650,
                "end_pos": 650,
                "sequence_org": "L",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "81499213",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L650",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs938729667",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs938729667"
                    },
                    {
                        "id": "rs938729667",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs938729667#frequency_tab"
                    },
                    {
                        "id": "rs938729667",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs938729667"
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                ],
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                "end_pos": 651,
                "sequence_org": "D",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "81499210",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D651",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q04446",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q04446"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 651,
                "end_pos": 651,
                "subjects_tested": "2003",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "D",
                "sequence_mut": "Y",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "3",
                "chr_pos": "81499211",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "D651",
                "disease": [
                    {
                        "disease_id": "DOID:3571",
                        "recommended_name": {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
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                            "description": "A hepatobiliary system cancer that is located_in the liver."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "Ca liver - primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "Resectable malignant neoplasm of Liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant hepato-biliary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant tumor of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "non-resectable primary hepatic malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary liver cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "resectable malignant neoplasm of the liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, not specified as primary or secondary",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "3571",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3571"
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                        ]
                    }
                ],
                "keywords": [
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            },
            {
                "evidence": [
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                        "id": "rs756859313",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756859313"
                    },
                    {
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                                "id": "DOID:1612",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
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                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
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                            {
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                                "resource": "MONDO",
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                            "DOID:0050938"
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease caused by mutation in GBE1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease, type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, adult, with isolated myopathy",
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, childhood",
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                                "id": "MONDO:0009292",
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                                "name": "GSD IV, neuromuscular form, congenital",
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                                "id": "MONDO:0009292",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
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                                "id": "MONDO:0008903",
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                                "resource": "MONDO",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type IV",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD 4",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, classic hepatic",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, adult, with isolated myopathy",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, childhood",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, congenital",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, fatal perinatal",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, nonprogressive hepatic",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD4",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                                "id": "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",
                                "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",
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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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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0012942",
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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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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "branching-transferase deficiency glycogenosis",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease, type IV",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type 4",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type IV",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, classic hepatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, adult, with isolated myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, childhood",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, congenital",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, fatal perinatal",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, nonprogressive hepatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Gbe1 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "brancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "cirrhosis, familial, with deposition of abnormal glycogen",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease IV",
                                "description": ""
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                                "url": "https://www.omim.org/entry/232500",
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
                                "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",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, classic hepatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, adult, with isolated myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, childhood",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, congenital",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, fatal perinatal",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, nonprogressive hepatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Gbe1 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "brancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis 4",
                                "description": ""
                            },
                            {
                                "id": "MIM:232500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232500",
                                "name": "Glycogen storage disease 4",
                                "description": "Glycogen storage disease 4"
                            }
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                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232500"
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                            {
                                "id": "2750",
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                                "url": "https://www.alliancegenome.org/disease/DOID:2750"
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                    {
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                    {
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                    {
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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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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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": ""
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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",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
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                                "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",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "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",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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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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                                "resource": "MONDO",
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                                "id": "DOID:10283",
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                                "name": "tumor of the prostate",
                                "description": ""
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                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer, hereditary, X-linked 1",
                                "description": ""
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                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
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                                "description": ""
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                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer, hereditary, X-linked 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer susceptibility, X-linked",
                                "description": ""
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                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "prostate cancer, hereditary, X-linked 2",
                                "description": ""
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                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "HPCX2",
                                "description": ""
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                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "prostate cancer, hereditary, X-linked 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "RNASEL familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "familial prostate cancer caused by mutation in RNASEL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "HPC1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "Prca1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, type 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "HPC8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "predisposing for prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, susceptibility to, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "HPC3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, susceptibility to, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "HPC4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, on chromosome 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "HPC5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, type 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "HPC6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "HPC7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer aggressiveness",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, type 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "HPC9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "HPC10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "EHBP1 familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "familial prostate cancer caused by mutation in EHBP1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, type 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "HPC12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "MSMB familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "familial prostate cancer caused by mutation in MSMB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, type 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "HPC13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "HPC11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "HPC14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "HPC15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0700275",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0700275",
                                "name": "prostate cancer, hereditary",
                                "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents."
                            },
                            {
                                "id": "MIM:601518",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/601518",
                                "name": "Prostate cancer, hereditary, 1",
                                "description": "Prostate cancer, hereditary, 1"
                            },
                            {
                                "id": "MIM:610997",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610997",
                                "name": "Prostate cancer, hereditary, 9",
                                "description": "Prostate cancer, hereditary, 9"
                            },
                            {
                                "id": "MIM:611868",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611868",
                                "name": "Prostate cancer, hereditary, 12",
                                "description": "Prostate cancer, hereditary, 12"
                            },
                            {
                                "id": "MIM:611928",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611928",
                                "name": "Prostate cancer, hereditary, 13",
                                "description": "Prostate cancer, hereditary, 13"
                            },
                            {
                                "id": "MIM:611955",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611955",
                                "name": "Prostate cancer, hereditary, 11",
                                "description": "Prostate cancer, hereditary, 11"
                            },
                            {
                                "id": "MIM:176807",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/176807",
                                "name": "Prostate cancer",
                                "description": "Prostate cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10283",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10283"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2750",
                        "recommended_name": {
                            "id": "DOID:2750",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2750",
                            "name": "glycogen storage disease IV",
                            "description": "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
                                "name": "Amylopectinosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
                                "name": "Branching-transferase deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
                                "name": "Glycogen storage disease, type IV",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
                                "name": "brancher deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
                                "name": "deficiency of 1,4-alpha-glucan branching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
                                "name": "Glycogen storage disease 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
                                "description": "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases."
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen Disease (GSD IV)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GBE1 glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "amylopectinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "brancher deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "Resectable malignant neoplasm of Liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant hepato-biliary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant tumor of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "non-resectable primary hepatic malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary liver cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "resectable malignant neoplasm of the liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, not specified as primary or secondary",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "3571",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3571"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q04446",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q04446"
                    },
                    {
                        "id": "rs202158511",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202158511"
                    },
                    {
                        "id": "rs202158511",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202158511"
                    },
                    {
                        "id": "rs202158511",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202158511"
                    },
                    {
                        "id": "rs202158511",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs202158511#frequency_tab"
                    },
                    {
                        "id": "rs202158511",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs202158511"
                    },
                    {
                        "id": "rs202158511",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs202158511"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 679,
                "end_pos": 679,
                "subjects_tested": "720",
                "subjects_positive": "2",
                "frequency": "0.3",
                "sequence_org": "R",
                "sequence_mut": "C",
                "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).",
                "chr_id": "3",
                "chr_pos": "81499127",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R679",
                "disease": [
                    {
                        "disease_id": "DOID:10534",
                        "recommended_name": {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
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                            "description": "A gastrointestinal system cancer that is located_in the stomach."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10534",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the stomach."
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca lesser curvature - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "GC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "cancer of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer risk after h. pylori infection",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant stomach neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "stomach cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca body - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "ca greater curvature of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer, intestinal",
                                "description": ""
                            },
                            {
                                "id": "MIM:613659",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613659",
                                "name": "Gastric cancer",
                                "description": "Gastric cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10534",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
                            },
                            {
                                "id": "10534",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2531",
                        "recommended_name": {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                        },
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                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic malignancy",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "Hematological tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "blood cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:706",
                            "DOID:0050743",
                            "DOID:6536",
                            "DOID:1039",
                            "DOID:1036",
                            "DOID:0081452",
                            "DOID:4960",
                            "DOID:5772",
                            "DOID:5604",
                            "DOID:8527"
                        ],
                        "evidence": [
                            {
                                "id": "2531",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2531"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
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                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
                                "description": "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases."
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen Disease (GSD IV)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GBE1 glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "amylopectinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "brancher deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "branching-transferase deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "deficiency of 1,4-alpha-glucan branching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease caused by mutation in GBE1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease, type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, classic hepatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, adult, with isolated myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, childhood",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, congenital",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, fatal perinatal",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, nonprogressive hepatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Gbe1 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "brancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "cirrhosis, familial, with deposition of abnormal glycogen",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis 4",
                                "description": ""
                            },
                            {
                                "id": "MIM:232500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232500",
                                "name": "Glycogen storage disease 4",
                                "description": "Glycogen storage disease 4"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232500"
                            },
                            {
                                "id": "2750",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2750"
                            }
                        ]
                    }
                ],
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                    "ebi"
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            },
            {
                "evidence": [
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                    },
                    {
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs758188572"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 679,
                "end_pos": 679,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "H",
                "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
                "chr_id": "3",
                "chr_pos": "81499126",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R679",
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                                "resource": "Disease Ontology",
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                            {
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                            "resource": "Disease Ontology",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                                "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",
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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": "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",
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                                "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",
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                                "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": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "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": ""
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                            {
                                "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",
                                "name": "malignant neoplasm of the large bowel",
                                "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",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
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                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
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                            {
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                            {
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0001056",
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                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "id": "MONDO:0001056",
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                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of lesser curve of stomach",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of stomach",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of the stomach",
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                            {
                                "id": "MONDO:0001056",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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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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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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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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                            {
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                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen disease",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "name": "GBE1 glycogen storage disease",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD due to glycogen branching enzyme deficiency",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "name": "Amylopectinosis",
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                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2750",
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                            },
                            {
                                "id": "MONDO:0009292",
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                                "description": "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases."
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                            {
                                "id": "MONDO:0009292",
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                            },
                            {
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                            },
                            {
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            },
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                            {
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                "end_pos": 68,
                "sequence_org": "K",
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                "chr_id": "3",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
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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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                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "id": "232500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232500"
                            },
                            {
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                            }
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                        },
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                            },
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                                "description": ""
                            },
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                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
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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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                            },
                            {
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                                "resource": "MONDO",
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                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
                                "description": "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases."
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GBE1 glycogen storage disease",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type 4",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "brancher deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "name": "branching-transferase deficiency glycogenosis",
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                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "deficiency of 1,4-alpha-glucan branching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type IV",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, adult, with isolated myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, childhood",
                                "description": ""
                            },
                            {
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                                "name": "GSD IV, neuromuscular form, congenital",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "name": "GSD IV, neuromuscular form, fatal perinatal",
                                "description": ""
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, nonprogressive hepatic",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
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                                "url": "https://www.omim.org/entry/232500",
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                                "description": "Glycogen storage disease 4"
                            }
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                    }
                ]
            },
            {
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                ],
                "glycoeffect": [],
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                "end_pos": 68,
                "subjects_tested": "3601",
                "subjects_positive": "1",
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "chr_pos": "81705554",
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                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "K68",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                            {
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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",
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                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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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",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "large intestine cancer",
                                "description": ""
                            },
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GBE1 glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "amylopectinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "brancher deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "branching-transferase deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "deficiency of 1,4-alpha-glucan branching enzyme",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease caused by mutation in GBE1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease, type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, classic hepatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, adult, with isolated myopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, childhood",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, congenital",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, fatal perinatal",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, nonprogressive hepatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Gbe1 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "brancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "cirrhosis, familial, with deposition of abnormal glycogen",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis 4",
                                "description": ""
                            },
                            {
                                "id": "MIM:232500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232500",
                                "name": "Glycogen storage disease 4",
                                "description": "Glycogen storage disease 4"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "232500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232500"
                            },
                            {
                                "id": "2750",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2750"
                            }
                        ]
                    }
                ]
            }
        ]
    }
}