{
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                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                                "description": ""
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "description": ""
                            },
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                                "description": ""
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "breast cancer, familial Male",
                                "description": ""
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                                "description": "Breast cancer"
                            }
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                            "DOID:0050938"
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                            "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "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",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "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": ""
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                            {
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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",
                                "name": "GSD due to glycogen branching enzyme deficiency",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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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",
                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
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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",
                                "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",
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                                "name": "GSD type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
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            },
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                "end_pos": 469,
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                "chr_id": "3",
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                "minor_allelic_frequency": "",
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                            {
                                "id": "MONDO:0009292",
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                            {
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                            {
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                                "id": "MONDO:0009292",
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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": [
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                                "id": "232500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232500"
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                            {
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                                "database": "AGR",
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                            }
                        ]
                    }
                ]
            },
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                "end_pos": 46,
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            {
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                    {
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                    {
                        "id": "rs748051809",
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                    {
                        "id": "rs748051809",
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                ],
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                    "germline"
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            },
            {
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                ],
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                "sequence_mut": "I",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "alt_nt": "T",
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                "site_lbl": "L470",
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                    {
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                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
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                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
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                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                        ],
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            {
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "L470",
                "disease": [
                    {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
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                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "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",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "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",
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                                "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",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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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",
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                                "name": "GSD IV, neuromuscular form, adult, with isolated myopathy",
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                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, childhood",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, congenital",
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                            },
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            },
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                            {
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                            {
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                                "resource": "MONDO",
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            {
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                            {
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
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                            {
                                "id": "MONDO:0005575",
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                                "description": ""
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
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                                "name": "breast cancer, somatic",
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                            {
                                "id": "MONDO:0016419",
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                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0016419",
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                                "id": "MONDO:0016419",
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                                "description": ""
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                                "id": "MONDO:0016419",
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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": "DOID:2750",
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                            {
                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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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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                                "resource": "MONDO",
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                                "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",
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                            }
                        ]
                    },
                    {
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                            "id": "DOID:2750",
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                                "id": "DOID:2750",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
                                "name": "Branching-transferase deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
                                "name": "Glycogen storage disease, type IV",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2750",
                                "name": "brancher deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
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                                "id": "DOID:2750",
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                                "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."
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                            {
                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GBE1 glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "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",
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                                "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",
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                            },
                            {
                                "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",
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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": ""
                            },
                            {
                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "brancher deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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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",
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                                "name": "Glycogen storage disease 4",
                                "description": "Glycogen storage disease 4"
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                            {
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                        ]
                    }
                ],
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            },
            {
                "evidence": [
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                "subjects_tested": "2053",
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                "sequence_mut": "N",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "D487",
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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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                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
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                        "synonyms": [
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                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
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                                "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": [
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                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                        ]
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                ],
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            },
            {
                "evidence": [
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                    {
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                ],
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                "sequence_mut": "Y",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                            "url": "http://disease-ontology.org/term/DOID:0070133",
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                            "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."
                        },
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                                "id": "DOID:0070133",
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                                "url": "http://disease-ontology.org/term/DOID:0070133",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013754",
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                                "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."
                            },
                            {
                                "id": "MONDO:0013754",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013754",
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                            {
                                "id": "MONDO:0013754",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013754",
                                "name": "autosomal recessive cutis laxa type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013754",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013754",
                                "name": "cutis laxa, autosomal recessive, type IB",
                                "description": ""
                            },
                            {
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                                "url": "https://www.omim.org/entry/614437",
                                "name": "Cutis laxa, autosomal recessive, 1B",
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                        ],
                        "unlinked_id_list": [],
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                                "id": "614437",
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                                "url": "https://www.omim.org/entry/614437"
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                            {
                                "id": "0070133",
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                                "url": "https://www.alliancegenome.org/disease/DOID:0070133"
                            }
                        ]
                    },
                    {
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                            "id": "DOID:0070133",
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                            "url": "http://disease-ontology.org/term/DOID:0070133",
                            "name": "autosomal recessive cutis laxa type IB",
                            "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."
                        },
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                            {
                                "id": "DOID:0070133",
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                            },
                            {
                                "id": "MONDO:0013754",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013754",
                                "name": "cutis laxa, autosomal recessive, type 1B",
                                "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."
                            },
                            {
                                "id": "MONDO:0013754",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013754",
                                "name": "ARCL1B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013754",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013754",
                                "name": "autosomal recessive cutis laxa type IB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013754",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013754",
                                "name": "cutis laxa, autosomal recessive, type IB",
                                "description": ""
                            },
                            {
                                "id": "MIM:614437",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/614437",
                                "name": "Cutis laxa, autosomal recessive, 1B",
                                "description": "Cutis laxa, autosomal recessive, 1B"
                            }
                        ],
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                                "id": "614437",
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                                "url": "https://www.omim.org/entry/614437"
                            },
                            {
                                "id": "0070133",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0070133"
                            }
                        ]
                    }
                ],
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                    "germline",
                    "disease"
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            },
            {
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                    {
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                ],
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                "end_pos": 488,
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                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81578080",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
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            {
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                ],
                "glycoeffect": [
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                ],
                "start_pos": 489,
                "end_pos": 489,
                "sequence_org": "S",
                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "81578077",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "name": "glycogen branching enzyme deficiency",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD4",
                                "description": ""
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                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
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                            {
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
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                            {
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                                "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",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
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                                "name": "GSD 4",
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                            {
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, childhood",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                            {
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                            {
                                "id": "MONDO:0008903",
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                                "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",
                                "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": "glycogenosis 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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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
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                                "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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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
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                            {
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                            {
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                            "url": "http://disease-ontology.org/term/DOID:2750",
                            "name": "glycogen storage disease IV",
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                        },
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                                "id": "DOID:2750",
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                            },
                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
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                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
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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."
                            },
                            {
                                "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",
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                                "description": ""
                            },
                            {
                                "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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD due to glycogen branching enzyme deficiency",
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                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type 4",
                                "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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "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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                            {
                                "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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "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",
                                "resource": "MONDO",
                                "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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                                "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": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            {
                                "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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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232500",
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                                "description": "Glycogen storage disease 4"
                            }
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                "sequence_org": "K",
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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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                                "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",
                                "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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                            {
                                "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": "glycogenosis 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": ""
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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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                                "name": "GSD IV, classic hepatic",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, childhood",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV, neuromuscular form, fatal perinatal",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD 4",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV",
                                "description": ""
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                            {
                                "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",
                                "resource": "MONDO",
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                                "name": "GSD IV, neuromuscular form, congenital",
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                                "id": "MONDO:0009292",
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                                "name": "GSD IV, neuromuscular form, fatal perinatal",
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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",
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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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                                "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",
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                                "id": "MONDO:0009292",
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            },
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                                "description": ""
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                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
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                                "id": "MONDO:0009292",
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                            {
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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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                            {
                                "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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                            {
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                                "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": "rs1705762755",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1705762755"
                    },
                    {
                        "id": "rs1705762755",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1705762755"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 51,
                "end_pos": 51,
                "sequence_org": "Q",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81705606",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q51",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "Q04446",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q04446"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 520,
                "end_pos": 520,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "H",
                "sequence_mut": "N",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "3",
                "chr_pos": "81577985",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "H520",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "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",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs773775991",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773775991"
                    },
                    {
                        "id": "rs773775991",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773775991"
                    },
                    {
                        "id": "rs773775991",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs773775991"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 521,
                "end_pos": 521,
                "sequence_org": "K",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81577982",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K521",
                "keywords": [
                    "ebi",
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                            "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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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
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                                "resource": "Disease Ontology",
                                "url": "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",
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                                "description": ""
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                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
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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": "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",
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                                "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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                                "description": ""
                            },
                            {
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                                "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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                                "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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                            {
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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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                                "name": "glycogenosis 4",
                                "description": ""
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                            {
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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": [
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                                "id": "232500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232500"
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                            {
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            },
            {
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                "start_pos": 521,
                "end_pos": 521,
                "sequence_org": "K",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "3",
                "chr_pos": "81577980",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K521",
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                            {
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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",
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                            {
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                            {
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                            {
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                            {
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Gbe1 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
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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 4",
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                            },
                            {
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                                "resource": "MONDO",
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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"
                            },
                            {
                                "id": "2750",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2750"
                            }
                        ]
                    }
                ]
            }
        ]
    }
}
