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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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                                "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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                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3320",
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                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "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",
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                                "description": ""
                            },
                            {
                                "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",
                                "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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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
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                                "id": "MONDO:0010100",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "resource": "MONDO",
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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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                            {
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                                "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",
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                                "description": ""
                            },
                            {
                                "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": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "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"
                            }
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                        "unlinked_id_list": [],
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                                "url": "https://www.omim.org/entry/272800"
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                            {
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                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
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                            }
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                    },
                    {
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                        "recommended_name": {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
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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": ""
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                            {
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                                "url": "http://disease-ontology.org/term/DOID:3320",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "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": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                                "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": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "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",
                                "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",
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                                "name": "B variant GM2 gangliosidosis",
                                "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": "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": ""
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
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                            {
                                "id": "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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                            {
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                                "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",
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                                "name": "hexosaminidase a deficiency",
                                "description": ""
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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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                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
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                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
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                                "id": "272800",
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                            {
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                            },
                            {
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            },
            {
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                    },
                    {
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                "end_pos": 341,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "15",
                "chr_pos": "72348099",
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                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "K341",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                            {
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                            {
                                "id": "MONDO:0012942",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
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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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                                "description": ""
                            },
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                            {
                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                            {
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                                "name": "GM2-gangliosidosis, type 1",
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                                "description": ""
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                            {
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                            {
                                "id": "MONDO:0010100",
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                            {
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                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "gangliosidosis GM2, type 1",
                                "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",
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            },
            {
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                "end_pos": 342,
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                "sequence_mut": "*",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72348097",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K342",
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                            {
                                "id": "MONDO:0010100",
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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": "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"
                            }
                        ]
                    },
                    {
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                        "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"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1322698222",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322698222"
                    },
                    {
                        "id": "rs1322698222",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1322698222#frequency_tab"
                    },
                    {
                        "id": "rs1322698222",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322698222"
                    }
                ],
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                ],
                "start_pos": 342,
                "end_pos": 342,
                "sequence_org": "K",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72348097",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K342",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P06865",
                        "database": "BioMuta",
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                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
                    },
                    {
                        "id": "",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v="
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                ],
                "glycoeffect": [
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                ],
                "start_pos": 342,
                "end_pos": 342,
                "subjects_tested": "589",
                "subjects_positive": "1",
                "frequency": "0.2",
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "15",
                "chr_pos": "72348096",
                "ref_nt": "T",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "K342",
                "disease": [
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
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                                "id": "MONDO:0011931",
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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": "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": ""
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                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                                "name": "GM2-gangliosidosis, type 1",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "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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                                "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",
                                "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": ""
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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",
                                "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",
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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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                            {
                                "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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                            {
                                "id": "MONDO:0010100",
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                "chr_id": "15",
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                "alt_nt": "null",
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                            {
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
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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",
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                                "name": "TSD",
                                "description": ""
                            },
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "name": "gangliosidosis GM2, type 1",
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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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                            {
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                                "id": "MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "name": "Tay-Sachs disease",
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                            {
                                "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",
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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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                                "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",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "id": "MONDO:0010100",
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                                "name": "GM2-gangliosidosis, adult chronic type",
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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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                            },
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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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                            {
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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",
                                "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": "3320",
                                "database": "AGR",
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                            }
                        ]
                    },
                    {
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                            {
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                            {
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                            {
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                                "name": "Hex A pseudodeficiency",
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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",
                                "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",
                                "resource": "MONDO",
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                                "name": "GM2-gangliosidosis, type 1",
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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",
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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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
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                                "description": ""
                            },
                            {
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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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                                "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": ""
                            },
                            {
                                "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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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
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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",
                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
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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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                                "description": ""
                            },
                            {
                                "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",
                                "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",
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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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                                "url": "https://www.omim.org/entry/272800",
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            },
            {
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                    },
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                ],
                "glycoeffect": [],
                "start_pos": 363,
                "end_pos": 363,
                "sequence_org": "V",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "15",
                "chr_pos": "72347745",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "0.000196232",
                "site_lbl": "V363",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "id": "MONDO: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"
                            }
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                        "evidence": [
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                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
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                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
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                            }
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                    }
                ],
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            },
            {
                "evidence": [
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                    },
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                "start_pos": 363,
                "end_pos": 363,
                "subjects_tested": "3601",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "V",
                "sequence_mut": "I",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "15",
                "chr_pos": "72347745",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "V363",
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                                "name": "colorectal cancer with chromosomal instability, somatic",
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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                                "id": "MONDO:0005575",
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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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                            {
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                            {
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                            {
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                            {
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                                "description": ""
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, adult chronic type",
                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, type 1",
                                "description": ""
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                            {
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                                "name": "GM2-gangliosidosis, variant B1",
                                "description": ""
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TAY-Sachs disease",
                                "description": ""
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                            {
                                "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": ""
                            },
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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": "hexosaminidase A deficiency",
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                            },
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                                "id": "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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                            {
                                "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",
                                "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",
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                            },
                            {
                                "id": "MONDO:0010100",
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                            },
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                                "name": "gangliosidosis GM2, type 1",
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            },
            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
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                                "description": ""
                            },
                            {
                                "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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                            {
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            {
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                "end_pos": 364,
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                                "description": ""
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                                "id": "DOID:3320",
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                                "description": ""
                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/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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                                "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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                            {
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                            {
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                            {
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                            {
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            {
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                "ref_nt": "p",
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                "minor_allelic_frequency": "",
                "site_lbl": "S364",
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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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                                "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",
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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": "TSD",
                                "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",
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                                "name": "gangliosidosis GM2, type 1",
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                                "id": "MONDO:0010100",
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                                "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"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P06865",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06865"
                    },
                    {
                        "id": "rs1209189473",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209189473"
                    },
                    {
                        "id": "rs1209189473",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209189473"
                    },
                    {
                        "id": "rs1209189473",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1209189473"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 370,
                "end_pos": 370,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "Y",
                "sequence_mut": "C",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "15",
                "chr_pos": "72347723",
                "ref_nt": "T",
                "alt_nt": "C",
                "minor_allelic_frequency": "",
                "site_lbl": "Y370",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
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                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
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                            "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."
                        },
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                                "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",
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                            {
                                "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"
                            },
                            {
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                                "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"
                            }
                        ]
                    }
                ]
            }
        ]
    }
}
