{
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                            {
                                "id": "MONDO:0010100",
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                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
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                "end_pos": 103,
                "sequence_org": "G",
                "sequence_mut": "E",
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                "minor_allelic_frequency": "",
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                                "id": "DOID:3320",
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                                "name": "hexosaminidase A deficiency",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
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                                "url": "https://www.omim.org/entry/272800",
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            },
            {
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                "glycoeffect": [],
                "start_pos": 106,
                "end_pos": 106,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72356555",
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                "minor_allelic_frequency": "",
                "site_lbl": "Q106",
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                            {
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                                "description": ""
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                "end_pos": 109,
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                "minor_allelic_frequency": "",
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                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
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                            },
                            {
                                "id": "MONDO:0010100",
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                                "name": "GM2-gangliosidosis, variant B1",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
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                            {
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "GM2-gangliosidosis, adult chronic type",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "GM2-gangliosidosis, variant B1",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs774220090"
                    }
                ],
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                    "n-glyco-sequon-loss"
                ],
                "start_pos": 115,
                "end_pos": 115,
                "sequence_org": "N",
                "sequence_mut": "K",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72356526",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N115",
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                ],
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "description": ""
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                                "id": "MONDO:0010100",
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                            }
                        ]
                    }
                ],
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                ]
            },
            {
                "evidence": [
                    {
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                ],
                "glycoeffect": [
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                "start_pos": 116,
                "end_pos": 116,
                "sequence_org": "Y",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72355624",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Y116",
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                            {
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "resource": "Disease Ontology",
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                                "id": "DOID:1319",
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                            {
                                "id": "DOID:1319",
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                                "id": "DOID:1319",
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                                "id": "DOID:3320",
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                            {
                                "id": "MONDO:0010100",
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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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                "minor_allelic_frequency": "",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "GM2-gangliosidosis, variant B1",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "description": ""
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "gangliosidosis GM2, type 1",
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            },
            {
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "minor_allelic_frequency": "",
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                            {
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                            {
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "hexosaminidase A deficiency",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
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                                "id": "MONDO:0010100",
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                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
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                            {
                                "id": "MONDO:0010100",
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                                "name": "GM2-gangliosidosis, type 1",
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                            {
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                                "id": "MONDO:0010100",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "resource": "MIM",
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                    {
                        "id": "",
                        "database": "dbSNP",
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
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                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                    },
                    {
                        "id": "1837283",
                        "database": "PubMed",
                        "url": "https://glygen.org/publication/PubMed/1837283"
                    },
                    {
                        "id": "rs121907962",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121907962"
                    },
                    {
                        "id": "rs1567300278",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1567300278"
                    },
                    {
                        "id": "rs1567300278",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1567300278"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 137,
                "end_pos": 137,
                "subjects_tested": "720",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "15",
                "chr_pos": "72355562",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R137",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            },
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                                "id": "MONDO:0001056",
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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",
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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",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of lesser curve of stomach",
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                            {
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                            {
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0001056",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": "GM2-gangliosidosis 1"
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
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                ],
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            },
            {
                "evidence": [
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                ],
                "glycoeffect": [],
                "start_pos": 13,
                "end_pos": 13,
                "sequence_org": "A",
                "sequence_mut": "V",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72375935",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000196232",
                "site_lbl": "A13",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
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                            {
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                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                            {
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                                "description": ""
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                            {
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                            {
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                                "description": ""
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                            {
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                            {
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                                "description": ""
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                                "id": "MONDO:0010100",
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                "end_pos": 140,
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                            {
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the bladder",
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                            {
                                "id": "MONDO:0001187",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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            },
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                "end_pos": 141,
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                "minor_allelic_frequency": "",
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            {
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
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                            {
                                "id": "DOID:3320",
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                            {
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "GM2-gangliosidosis, several forms",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
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                            {
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                                "id": "MONDO:0010100",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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            },
            {
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                "minor_allelic_frequency": "",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2-gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, juvenile",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, pseudo-Ab variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexa deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase a deficiency, adult type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            }
        ]
    }
}