{
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                            },
                            {
                                "id": "MONDO:0010526",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                                "resource": "MONDO",
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                                "name": "Alpha-galactosidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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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",
                                "resource": "MONDO",
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                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "name": "primary ovarian cancer",
                                "description": ""
                            },
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
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                            }
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                ],
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            },
            {
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                "start_pos": 298,
                "end_pos": 298,
                "sequence_org": "N",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398475",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N298",
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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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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:14499",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:14499",
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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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                                "description": ""
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                            {
                                "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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                                "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",
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                                "description": ""
                            },
                            {
                                "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",
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                            {
                                "id": "MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
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                            {
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            },
            {
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                                "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"
                            }
                        ],
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                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14499"
                            }
                        ]
                    }
                ],
                "keywords": [
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                    "disease"
                ]
            },
            {
                "evidence": [
                    {
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                    },
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                    },
                    {
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                    },
                    {
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                    },
                    {
                        "id": "rs398123222",
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                    }
                ],
                "glycoeffect": [],
                "start_pos": 300,
                "end_pos": 300,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398471",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "L300",
                "disease": [
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            },
                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            },
                            {
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                                "description": ""
                            },
                            {
                                "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",
                                "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": ""
                            },
                            {
                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "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": ""
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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": "malignant neoplasm of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            },
                            {
                                "id": "MONDO:0005575",
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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",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            },
                            {
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "large intestine cancer",
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                            },
                            {
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                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
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                    },
                    {
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                            },
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
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                                "description": ""
                            },
                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:14499",
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                                "resource": "MONDO",
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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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                                "description": ""
                            },
                            {
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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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                                "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",
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                                "name": "deficiency of melibiase",
                                "description": ""
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                            {
                                "id": "MONDO:0010526",
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                                "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": "Fabry disease, Cardiac variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                                "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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                                "id": "14499",
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                            }
                        ]
                    },
                    {
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                            "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": [
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                "ref_nt": "C",
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                "minor_allelic_frequency": "",
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                                "description": ""
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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                            {
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                            {
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                            },
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                                "id": "MONDO:0010526",
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                                "id": "MONDO:0010526",
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                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of Brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of adult brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "primary malignant neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "tumor of the Brain",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1659",
                            "DOID:4203",
                            "DOID:368",
                            "DOID:3541",
                            "DOID:4706"
                        ],
                        "evidence": [
                            {
                                "id": "1319",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1319"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
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                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                        ]
                    }
                ],
                "keywords": [
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                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280"
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                    },
                    {
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                ],
                "glycoeffect": [],
                "start_pos": 309,
                "end_pos": 309,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398443",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "A309",
                "disease": [
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
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                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:5166",
                            "DOID:4114",
                            "DOID:2021",
                            "DOID:9460"
                        ],
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                                "id": "363",
                                "database": "AGR",
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                            }
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                    },
                    {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:14499",
                            "name": "Fabry disease",
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                                "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"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:14499",
                        "recommended_name": {
                            "id": "DOID:14499",
                            "resource": "Disease Ontology",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1555984967"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 310,
                "end_pos": 310,
                "sequence_org": "L",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "X",
                "chr_pos": "101398441",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L310",
                "keywords": [
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                    "germline"
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            },
            {
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06280"
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                        "id": "rs869312449",
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                ],
                "glycoeffect": [],
                "start_pos": 311,
                "end_pos": 311,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398438",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
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                            {
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                            {
                                "id": "DOID:4159",
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                                "url": "http://disease-ontology.org/term/DOID:4159",
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                            "DOID:3149"
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                                "description": ""
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            {
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                            {
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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",
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                            {
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                                "description": ""
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010526",
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                                "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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                            {
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                                "description": ""
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                                "description": ""
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                            {
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                            },
                            {
                                "id": "MONDO:0010526",
                                "resource": "MONDO",
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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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                    {
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                    },
                    {
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                    {
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                    },
                    {
                        "id": "14635108",
                        "database": "PubMed",
                        "url": ""
                    },
                    {
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                        "database": "PubMed",
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                    },
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                        "database": "PubMed",
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                ],
                "glycoeffect": [],
                "start_pos": 313,
                "end_pos": 313,
                "subjects_tested": "606",
                "subjects_positive": "1",
                "frequency": "0.2",
                "sequence_org": "D",
                "sequence_mut": "Y",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "23",
                "chr_pos": "101398432",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "D313",
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                            {
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                                "id": "MONDO:0010526",
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                                "id": "MONDO:0010526",
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                ],
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                    "germline",
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            }
        ]
    }
}
