{
    "batchid": 2,
    "recordid": "P11217-1",
    "recordtype": "protein",
    "sections": {
        "snv": [
            {
                "evidence": [
                    {
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217"
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                    {
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs749507354"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 185,
                "end_pos": 185,
                "subjects_tested": "1906",
                "subjects_positive": "1",
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                "sequence_org": "R",
                "sequence_mut": "C",
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                "alt_nt": "A",
                "minor_allelic_frequency": "",
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                            {
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                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Mcardle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "PYGM glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease caused by mutation in PYGM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease, type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "myophosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle type glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Pygm deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232600",
                                "name": "Glycogen storage disease 5",
                                "description": "Glycogen storage disease 5"
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                        ],
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                        "evidence": [
                            {
                                "id": "2746",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2746"
                            },
                            {
                                "id": "2746",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2746"
                            }
                        ]
                    },
                    {
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                            "id": "DOID:2746",
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                            {
                                "id": "DOID:2746",
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                                "description": ""
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                            {
                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2746",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2746",
                                "name": "glycogen storage disease type V",
                                "description": ""
                            },
                            {
                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2746",
                                "name": "myophosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2746",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance."
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Mcardle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "PYGM glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease caused by mutation in PYGM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease, type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "myophosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle type glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
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                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232600",
                                "name": "Glycogen storage disease 5",
                                "description": "Glycogen storage disease 5"
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                            },
                            {
                                "id": "2746",
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                            }
                        ]
                    }
                ],
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                    "germline",
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            },
            {
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                    {
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                    "germline"
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            },
            {
                "evidence": [
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                        "id": "P11217",
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                    {
                        "id": "",
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                    {
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                ],
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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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                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
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                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
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                            }
                        ],
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                            "DOID:3149"
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                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                        ]
                    }
                ],
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            },
            {
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                    {
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                        "database": "dbSNP",
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                    {
                        "id": "",
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck tumours",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11934",
                                "name": "head/neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:11934",
                                "name": "tumor of head and neck",
                                "description": ""
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                        "unlinked_id_list": [
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                                "id": "11934",
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            },
            {
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                    {
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                    {
                        "id": "rs149597150",
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                "end_pos": 192,
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                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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            },
            {
                "evidence": [
                    {
                        "id": "rs1226003414",
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                    {
                        "id": "rs1226003414",
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                    },
                    {
                        "id": "rs1226003414",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226003414"
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                ],
                "glycoeffect": [],
                "start_pos": 193,
                "end_pos": 193,
                "sequence_org": "A",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "64757861",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A193",
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                    "ebi",
                    "germline"
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            },
            {
                "evidence": [
                    {
                        "id": "rs77656150",
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                    {
                        "id": "rs77656150",
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                "start_pos": 193,
                "end_pos": 193,
                "sequence_org": "A",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "64757862",
                "ref_nt": "A",
                "alt_nt": "null",
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                            "url": "http://disease-ontology.org/term/DOID:2746",
                            "name": "glycogen storage disease V",
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                        },
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                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
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                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
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                                "name": "myophosphorylase deficiency",
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                            {
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                "start_pos": 197,
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                "sequence_org": "F",
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                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "64757850",
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                "minor_allelic_frequency": "",
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                            "name": "glycogen storage disease V",
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                        },
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                            {
                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
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                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
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                                "name": "myophosphorylase deficiency",
                                "description": ""
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                            {
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                            {
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                            {
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                "minor_allelic_frequency": "",
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "id": "MONDO:0009293",
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                                "name": "glycogen storage disease, type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "myophosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle type glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Pygm deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232600",
                                "name": "Glycogen storage disease 5",
                                "description": "Glycogen storage disease 5"
                            }
                        ],
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                                "url": "https://www.alliancegenome.org/disease/DOID:2746"
                            },
                            {
                                "id": "2746",
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                ],
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                    "cancer",
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                            {
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                            {
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                                "description": ""
                            },
                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
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                                "resource": "MONDO",
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                            }
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            {
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                    {
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
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                                "description": ""
                            },
                            {
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                            },
                            {
                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
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                                "name": "myophosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2746",
                                "name": "Glycogen storage disease 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance."
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Mcardle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "PYGM glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type 5",
                                "description": ""
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle disease",
                                "description": ""
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle's disease",
                                "description": ""
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
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                                "description": ""
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
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                                "description": ""
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                                "id": "MONDO:0009293",
                                "resource": "MONDO",
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                                "id": "MONDO:0009293",
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                                "id": "MONDO:0009293",
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                                "id": "MONDO:0009293",
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                                "id": "MONDO:0009293",
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "id": "MONDO:0007576",
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                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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                                "name": "Escc, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal squamous cell carcinoma, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "gastric cardia adenocarcinoma, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MIM:133239",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133239",
                                "name": "Esophageal cancer",
                                "description": "Esophageal cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "5041",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:5041"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:10534",
                        "recommended_name": {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
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                        },
                        "synonyms": [
                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10534",
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                                "description": ""
                            },
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10534",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the stomach."
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "GC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer risk after h. pylori infection",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant stomach neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of lesser curve of stomach",
                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of stomach",
                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca body - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "ca greater curvature of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            },
                            {
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                            },
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                ],
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                    "cancer",
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                    "ebi",
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                ]
            },
            {
                "evidence": [
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                    },
                    {
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                    },
                    {
                        "id": "rs746956492",
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                    },
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                "glycoeffect": [],
                "start_pos": 210,
                "end_pos": 210,
                "subjects_tested": "2003",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "T",
                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "64757811",
                "ref_nt": "T",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "T210",
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                    {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
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                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "Ca liver - primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "Resectable malignant neoplasm of Liver",
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                            },
                            {
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant hepato-biliary neoplasm",
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
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                                "description": ""
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                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
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                                "name": "malignant neoplasm of liver, primary",
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                                "description": ""
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                            {
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                                "url": "http://disease-ontology.org/term/DOID:3571",
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                                "description": ""
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                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary liver cancer",
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                            {
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                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "resectable malignant neoplasm of the liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
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                                "description": ""
                            }
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                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2746",
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                                "description": ""
                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2746",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2746",
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                                "url": "http://disease-ontology.org/term/DOID:2746",
                                "name": "Glycogen storage disease 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance."
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Mcardle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "PYGM glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease caused by mutation in PYGM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease, type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "myophosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle type glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Pygm deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle type glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Pygm deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232600",
                                "name": "Glycogen storage disease 5",
                                "description": "Glycogen storage disease 5"
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                        ],
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                            {
                                "id": "2746",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2746"
                            },
                            {
                                "id": "2746",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2746"
                            }
                        ]
                    }
                ],
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                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P11217"
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                    {
                        "id": "",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 217,
                "subjects_tested": "320",
                "subjects_positive": "1",
                "frequency": "0.3",
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                    {
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                            "url": "http://disease-ontology.org/term/DOID:4362",
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                            "description": "A female reproductive organ cancer that is located_in the cervix."
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4362",
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                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4362",
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                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4362",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cervical cancer",
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                                "name": "tumor of the cervix uteri",
                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                            {
                                "id": "MONDO:0002974",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cancer of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cervix uteri cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervical tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervical tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                                "name": "malignant neoplasm of the uterine cervix",
                                "description": ""
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                            {
                                "id": "MONDO:0002974",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of cervix uteri",
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                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0002974",
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                            {
                                "id": "MONDO:0002974",
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                                "description": ""
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
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                                "name": "malignant tumour of cervix uteri",
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the cervix",
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0002974",
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                            {
                                "id": "MONDO:0002974",
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                                "description": "Cervical cancer"
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            },
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                                "description": ""
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                            {
                                "id": "DOID:263",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:263",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:263",
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                            {
                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2746",
                                "name": "McArdle's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2746",
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                                "name": "glycogen storage disease type V",
                                "description": ""
                            },
                            {
                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2746",
                                "name": "myophosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2746",
                                "name": "Glycogen storage disease 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance."
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
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                            },
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                            },
                            {
                                "id": "MONDO:0009293",
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                            },
                            {
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                            {
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                            "DOID:0050743",
                            "DOID:6536",
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                            "DOID:1036",
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                            "DOID:4960",
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                            {
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                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Mcardle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "PYGM glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease caused by mutation in PYGM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease, type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
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                                "name": "GSD 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
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                            },
                            {
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0009293",
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                        },
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                                "url": "http://disease-ontology.org/term/DOID:2531",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
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                            },
                            {
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                                "name": "blood cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
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                            "DOID:1036",
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                ],
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                            {
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                            {
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:363",
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                    {
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                    },
                    {
                        "id": "rs140731551",
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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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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "name": "malignant tumor of the large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "id": "MONDO:0005575",
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                                "description": ""
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                            {
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                                "description": ""
                            },
                            {
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                            },
                            {
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                            },
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                            },
                            {
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                                "name": "glycogen storage disease V",
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                            },
                            {
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                                "resource": "MONDO",
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                                "name": "GSD due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Mcardle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "PYGM glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease caused by mutation in PYGM",
                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Mcardle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "PYGM glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease caused by mutation in PYGM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease, type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "myophosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle type glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Pygm deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232600",
                                "name": "Glycogen storage disease 5",
                                "description": "Glycogen storage disease 5"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "2746",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2746"
                            },
                            {
                                "id": "2746",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2746"
                            }
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                    }
                ],
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                    "cancer",
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                    "ebi"
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            },
            {
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                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 230,
                "end_pos": 230,
                "subjects_tested": "720",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "P",
                "sequence_mut": "H",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "64755530",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "P230",
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                            {
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0001056",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumour",
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                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant stomach neoplasm",
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                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of the stomach",
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                            },
                            {
                                "id": "MONDO:0001056",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of lesser curve of stomach",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of stomach",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of the stomach",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            },
                            {
                                "id": "MONDO:0001056",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
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                                "name": "malignant neoplasm of body of stomach",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MIM:613659",
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                                "description": "Gastric cancer"
                            }
                        ],
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                            },
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                    },
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                            {
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                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
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                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
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                            },
                            {
                                "id": "DOID:5041",
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                                "url": "http://disease-ontology.org/term/DOID:5041",
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                                "description": ""
                            },
                            {
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                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
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                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Distal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Proximal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of the middle Third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal carcinoma, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal squamous cell carcinoma, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophageal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophagus neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant esophagus tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of the oesophagus",
                                "description": ""
                            },
                            {
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                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
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                            {
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                            {
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
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                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009293",
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                            {
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                "site_lbl": "R235",
                "disease": [
                    {
                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
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                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
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                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
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                    },
                    {
                        "id": "rs373533637",
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                    },
                    {
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                    },
                    {
                        "id": "rs373533637",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs373533637"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 235,
                "end_pos": 235,
                "sequence_org": "R",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "11",
                "chr_pos": "64755516",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
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            },
            {
                "evidence": [
                    {
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                    },
                    {
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                    },
                    {
                        "id": "rs371247639",
                        "database": "TOPMed",
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                    },
                    {
                        "id": "rs371247639",
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                    },
                    {
                        "id": "rs371247639",
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs371247639"
                    }
                ],
                "glycoeffect": [],
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                "frequency": "0.0",
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                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
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                "chr_pos": "64755515",
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                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R235",
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                    {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:9256",
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                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "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",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "large intestine cancer",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
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                                "description": "Colorectal cancer"
                            }
                        ],
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                                "id": "9256",
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                        ]
                    },
                    {
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2746",
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                                "description": ""
                            },
                            {
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                                "description": ""
                            },
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                                "id": "DOID:2746",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
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                                "name": "Glycogen storage disease 5",
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                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance."
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Mcardle disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "PYGM glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease caused by mutation in PYGM",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease, type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogenosis type V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "myophosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "GSD5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "McArdle type glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "Pygm deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "glycogen storage disease due to muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009293",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009293",
                                "name": "muscle glycogen phosphorylase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:232600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232600",
                                "name": "Glycogen storage disease 5",
                                "description": "Glycogen storage disease 5"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
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                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1312195500#frequency_tab"
                    },
                    {
                        "id": "rs1312195500",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1312195500"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 243,
                "end_pos": 243,
                "subjects_tested": "720",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "H",
                "comment": "All mutations pass selection filters for glycosyltransferase proteins.",
                "chr_id": "11",
                "chr_pos": "64755491",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R243",
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                            {
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        ]
    }
}
