{
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Alpha-galactosidase A deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Anderson-Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "FD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0001187",
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                                "id": "MONDO:0001187",
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                            {
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                                "id": "MONDO:0010526",
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                                "id": "MONDO:0010526",
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                                "id": "MONDO:0010526",
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                                "id": "MONDO:0010526",
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                    {
                        "disease_id": "DOID:14499",
                        "recommended_name": {
                            "id": "DOID:14499",
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:14499",
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                            {
                                "id": "DOID:14499",
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                            },
                            {
                                "id": "DOID:14499",
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                            {
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                                "resource": "MONDO",
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                                "name": "Alpha-galactosidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "FD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "name": "Fabry disease",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010526",
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                                "description": ""
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma corporis diffusum",
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                            {
                                "id": "MONDO:0010526",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "name": "Fabry disease",
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                            {
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                            {
                                "id": "DOID:14499",
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                            {
                                "id": "DOID:14499",
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                            {
                                "id": "MONDO:0010526",
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                            {
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                            {
                                "id": "MONDO:0010526",
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                            {
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                            {
                                "id": "MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            {
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                            {
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                            {
                                "id": "MONDO:0010526",
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                            {
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                            {
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                            {
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                            {
                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "breast cancer, somatic",
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                            {
                                "id": "MONDO:0016419",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
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                            {
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": "Breast cancer"
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                        ],
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                            {
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                            {
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                            {
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                            {
                                "id": "DOID:14499",
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                "start_pos": 323,
                "end_pos": 323,
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                "sequence_mut": "T",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "101398402",
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                "minor_allelic_frequency": "",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "diffuse angiokeratoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease, Cardiac variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Gla deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma, diffuse",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "ceramide trihexosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "hereditary dystopic lipidosis",
                                "description": ""
                            },
                            {
                                "id": "MIM:301500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/301500",
                                "name": "Fabry disease",
                                "description": "Fabry disease"
                            }
                        ],
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                                "database": "AGR",
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                            }
                        ]
                    }
                ],
                "keywords": [
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                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P06280",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280"
                    },
                    {
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                    },
                    {
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                    },
                    {
                        "id": "8395937",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/8395937"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 327,
                "end_pos": 327,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "Q",
                "sequence_mut": "K",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398390",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "Q327",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                            {
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                                "id": "MONDO:0012942",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            }
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                            {
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                            {
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                                "name": "alpha galactosidase deficiency",
                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
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                                "resource": "Disease Ontology",
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                                "name": "Fabry Disease, Cardiac Variant",
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                            {
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                                "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations."
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Alpha-galactosidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Anderson-Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "FD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            {
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                            {
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
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                            },
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                                "id": "MONDO:0010526",
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                            {
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                                "resource": "MONDO",
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                            {
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                "minor_allelic_frequency": "",
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                                "resource": "Disease Ontology",
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                                "id": "MONDO:0008903",
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                            {
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                            {
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                            {
                                "id": "MONDO:0012942",
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                                "id": "MONDO:0012942",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                                "description": ""
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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            },
            {
                "evidence": [
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                ],
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                "end_pos": 334,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "G",
                "sequence_mut": "E",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
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                "alt_nt": "T",
                "minor_allelic_frequency": "",
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                            "resource": "Disease Ontology",
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                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            },
                            {
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                            },
                            {
                                "id": "MONDO:0010526",
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    }
                ],
                "glycoeffect": [],
                "start_pos": 336,
                "end_pos": 336,
                "subjects_tested": "720",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "N",
                "sequence_mut": "D",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398093",
                "ref_nt": "T",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "N336",
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                            {
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001056",
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                            {
                                "id": "MONDO:0001056",
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                            {
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                            }
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                            {
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                            {
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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",
                                "resource": "MONDO",
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                                "name": "malignant neoplasm of proximal third of oesophagus",
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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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                            {
                                "id": "MONDO:0007576",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                                "description": ""
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                            {
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                            {
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                            },
                            {
                                "id": "MONDO:0010526",
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                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 340,
                "end_pos": 340,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "W",
                "sequence_mut": "L",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "chr_pos": "101398080",
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                "minor_allelic_frequency": "",
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                            "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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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
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                            "DOID:3149"
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                "keywords": [
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            },
            {
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                    {
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                ],
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                "end_pos": 340,
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                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "101398081",
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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:14499",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0010526",
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                            {
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                                "id": "MONDO:0010526",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010526",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                                "id": "MONDO:0010526",
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                                "id": "MONDO:0010526",
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                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398078",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "E341",
                "disease": [
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "hereditary dystopic lipidosis",
                                "description": ""
                            },
                            {
                                "id": "MIM:301500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/301500",
                                "name": "Fabry disease",
                                "description": "Fabry disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "14499",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14499"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:14499",
                        "recommended_name": {
                            "id": "DOID:14499",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:14499",
                            "name": "Fabry disease",
                            "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "Alpha-galactosidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "Angiokeratoma Corporis Diffusum",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "Fabry's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "alpha galactosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "deficiency of melibiase",
                                "description": ""
                            },
                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:14499",
                                "name": "Fabry Disease, Cardiac Variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease",
                                "description": "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations."
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Alpha-galactosidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Anderson-Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "FD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fd",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "alpha galactosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma corporis diffusum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "deficiency of melibiase",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "diffuse angiokeratoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Fabry disease, Cardiac variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "Gla deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "angiokeratoma, diffuse",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "ceramide trihexosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
                                "name": "hereditary dystopic lipidosis",
                                "description": ""
                            },
                            {
                                "id": "MIM:301500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/301500",
                                "name": "Fabry disease",
                                "description": "Fabry disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "14499",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14499"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            }
        ]
    }
}