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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",
                                "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",
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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",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
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                                "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": "glycogenosis type 4",
                                "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 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": ""
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                            {
                                "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",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, congenital",
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                            {
                                "id": "MONDO:0009292",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, fatal perinatal",
                                "description": ""
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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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                            },
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                                "id": "MONDO:0009292",
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                                "description": ""
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                                "id": "MONDO:0009292",
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                                "description": ""
                            },
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                            },
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
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                            }
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                                "url": "https://www.omim.org/entry/232500"
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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:0002974",
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                                "id": "MONDO:0002974",
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                                "id": "MONDO:0002974",
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                            {
                                "id": "MONDO:0002974",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                            {
                                "id": "MONDO:0002974",
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                            {
                                "id": "MONDO:0002974",
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                            {
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                                "description": ""
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                            {
                                "id": "MONDO:0002974",
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                            {
                                "id": "MONDO:0002974",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0002974",
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                            {
                                "id": "MONDO:0002974",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                            {
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                                "id": "MONDO:0002974",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of cervix uteri",
                                "description": ""
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                            {
                                "id": "MONDO:0002974",
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                            {
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                                "id": "MONDO:0002974",
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                                "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"
                            }
                        ],
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                        "evidence": [
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                                "id": "232500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232500"
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                            {
                                "id": "2750",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2750"
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                    }
                ]
            },
            {
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                "end_pos": 77,
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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            {
                "evidence": [
                    {
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                    {
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                    {
                        "id": "rs760216641",
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                    },
                    {
                        "id": "rs760216641",
                        "database": "gnomAD",
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                    {
                        "id": "rs760216641",
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                ],
                "glycoeffect": [],
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                "end_pos": 78,
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                "sequence_org": "V",
                "sequence_mut": "I",
                "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
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                "chr_pos": "81705525",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            "DOID:9460"
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                                "description": ""
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                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0001187",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "bladder cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant neoplasm, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumor, urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MIM:109800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/109800",
                                "name": "Bladder cancer",
                                "description": "Bladder cancer"
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                                "id": "11054",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11054"
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                        ]
                    },
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:9256",
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                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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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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                            {
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                            {
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                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "id": "MONDO:0008903",
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                            {
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                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
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                            {
                                "id": "MONDO:0012159",
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                            {
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                                "resource": "MONDO",
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                                "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",
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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": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "deficiency of 1,4-alpha-glucan branching enzyme",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "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",
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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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                            {
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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, congenital",
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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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                            {
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                            {
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                            {
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                            {
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                                "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",
                                "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"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q04446",
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                ],
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                "end_pos": 90,
                "subjects_tested": "3601",
                "subjects_positive": "1",
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                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "chr_pos": "81705489",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E90",
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                    {
                        "disease_id": "DOID:9256",
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                            "url": "http://disease-ontology.org/term/DOID:9256",
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                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "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": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
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                        "evidence": [
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                                "database": "AGR",
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                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
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            },
            {
                "evidence": [
                    {
                        "id": "rs2471917414",
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                    }
                ],
                "glycoeffect": [],
                "start_pos": 92,
                "end_pos": 92,
                "sequence_org": "A",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "81705485",
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                "minor_allelic_frequency": "",
                "site_lbl": "A92",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "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": [
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                                "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": ""
                            },
                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
                                "name": "brancher deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
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                                "name": "deficiency of 1,4-alpha-glucan branching enzyme",
                                "description": ""
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                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
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                                "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",
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                                "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": ""
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                            {
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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",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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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": "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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                                "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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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis 4",
                                "description": ""
                            },
                            {
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                                "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"
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                            {
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                                "url": "https://www.alliancegenome.org/disease/DOID:2750"
                            }
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                    }
                ]
            },
            {
                "evidence": [
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200746350"
                    },
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                ],
                "glycoeffect": [],
                "start_pos": 93,
                "end_pos": 93,
                "sequence_org": "P",
                "sequence_mut": "L",
                "comment": "Somatic mutation passed 0 out of 0 filters:",
                "chr_id": "NC_000003.12",
                "chr_pos": "81705479",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "0.00061",
                "site_lbl": "P93",
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
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                            {
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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",
                                "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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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
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                            {
                                "id": "MONDO:0009292",
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                            {
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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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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            },
                            {
                                "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",
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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": "glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease 4",
                                "description": ""
                            },
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                                "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"
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                            {
                                "id": "2750",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2750"
                            }
                        ]
                    }
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q04446",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q04446"
                    }
                ],
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                "end_pos": 93,
                "subjects_tested": "2053",
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                "sequence_mut": "Q",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "chr_pos": "81705479",
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                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "P93",
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                    {
                        "disease_id": "DOID:4159",
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
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                            {
                                "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"
                            }
                        ]
                    }
                ],
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                    "biomuta",
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                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs895720950",
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                    },
                    {
                        "id": "rs895720950",
                        "database": "ENSEMBL",
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                    }
                ],
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                "start_pos": 94,
                "end_pos": 94,
                "sequence_org": "G",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "81705476",
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                "minor_allelic_frequency": "",
                "site_lbl": "G94",
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                    "germline"
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            },
            {
                "evidence": [
                    {
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                ],
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                "end_pos": 95,
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "site_lbl": "A95",
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                        "recommended_name": {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                                "description": ""
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                            {
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                            },
                            {
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                                "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."
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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",
                                "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",
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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": ""
                            },
                            {
                                "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": ""
                            },
                            {
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                                "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",
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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",
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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",
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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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                            {
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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, neuromuscular form, congenital",
                                "description": ""
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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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                                "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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                            {
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                            {
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232500",
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                            }
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                "end_pos": 99,
                "sequence_org": "F",
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                                "description": ""
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                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
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                                "description": ""
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                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
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                                "url": "https://monarchinitiative.org/disease/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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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009292",
                                "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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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            },
                            {
                                "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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                                "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",
                                "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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                                "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",
                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
                                "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": ""
                            },
                            {
                                "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",
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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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                            {
                                "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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                                "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": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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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",
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                            {
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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",
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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",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "resource": "MIM",
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                        "evidence": [
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                    }
                ]
            }
        ]
    }
}
