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                        "id": "P54803",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54803"
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                ],
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
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                        ],
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                            "DOID:3149"
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            {
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                                "id": "DOID:10587",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                                "id": "MONDO:0009499",
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                            {
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                                "id": "MONDO:0009499",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "id": "MONDO:0009499",
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                            {
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                                "id": "MONDO:0009499",
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54803"
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                ],
                "glycoeffect": [],
                "start_pos": 123,
                "end_pos": 123,
                "subjects_tested": "3601",
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                "frequency": "0.0",
                "sequence_org": "E",
                "sequence_mut": "D",
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                "end_pos": 127,
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                "comment": "Somatic mutation passed 0 out of 0 filters:",
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                "minor_allelic_frequency": "",
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                                "resource": "Disease Ontology",
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                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "GALC enzyme deficiency",
                                "description": ""
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                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
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                                "id": "MONDO:0009499",
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                                "description": ""
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                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
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                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "DOID:10587",
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                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                            {
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "galactosylceramidase deficiency",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
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                            {
                                "id": "MONDO:0009499",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "id": "MONDO:0008903",
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                            {
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0012942",
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                            "url": "http://disease-ontology.org/term/DOID:10587",
                            "name": "Krabbe disease",
                            "description": ""
                        },
                        "synonyms": [
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "Diffuse globoid body sclerosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "GLOBOID CELL LEUKOENCEPHALOPATHY",
                                "description": ""
                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "Galactosylceramide beta-galactosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "Krabbe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "Krabbe's leukodystrophy",
                                "description": ""
                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "beta galactocerebrosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "globoid cell leukodystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Krabbe disease",
                                "description": "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms."
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "GALC deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "GALC enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Krabbe disease",
                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Leukodystrophy, Krabbe's",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "beta galactocerebrosidase deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "galactocerebrosidase deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "galactosylceramidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "galactosylceramide lipidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "globoid cell leukodystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "globoid cell leukoencephalopathy",
                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "later onset Krabbe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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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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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "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": ""
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                            {
                                "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",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "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",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                                "description": ""
                            },
                            {
                                "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",
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                                "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",
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                                "description": ""
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                                "description": "Lung cancer"
                            }
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                                "id": "DOID:10587",
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                                "id": "DOID:10587",
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                            {
                                "id": "DOID:10587",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "GALC enzyme deficiency",
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                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                                "name": "galactosylceramidase deficiency",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                                "id": "MONDO:0009499",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                            {
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                                "id": "MONDO:0009499",
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                            {
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                                "description": ""
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
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                                "description": ""
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                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009499",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                            {
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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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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                            {
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                                "resource": "MONDO",
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                                "name": "malignant lung tumour",
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                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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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:0009499",
                                "name": "later onset Krabbe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "later-onset Krabbe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "GLD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Krabbe leukodystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "galactosylceramide Beta-galactosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:245200",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/245200",
                                "name": "Krabbe disease",
                                "description": "Krabbe disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10587",
                                "database": "AGR",
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                        ]
                    },
                    {
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                            "url": "http://disease-ontology.org/term/DOID:10587",
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                        },
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                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "GLOBOID CELL LEUKOENCEPHALOPATHY",
                                "description": ""
                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "Galactosylceramide beta-galactosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "Krabbe's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "Krabbe's leukodystrophy",
                                "description": ""
                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "beta galactocerebrosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "globoid cell leukodystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Krabbe disease",
                                "description": "A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms."
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "GALC deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "GALC enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Krabbe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Krabbe's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Krabbe's leukodystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Leukodystrophy, Krabbe's",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "beta galactocerebrosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "diffuse globoid body sclerosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "galactocerebrosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "galactosylceramidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "galactosylceramide lipidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "globoid cell leukodystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "globoid cell leukoencephalopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "later onset Krabbe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "later-onset Krabbe disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "GLD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Krabbe leukodystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "galactosylceramide Beta-galactosidase deficiency",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
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                                "name": "Krabbe disease",
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                            }
                        ],
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                            }
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                    }
                ],
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                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P54803",
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                    {
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                    {
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                    },
                    {
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1886889305"
                    }
                ],
                "glycoeffect": [
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                "end_pos": 152,
                "subjects_tested": "720",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "S",
                "sequence_mut": "P",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "14",
                "chr_pos": "87984522",
                "ref_nt": "A",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "S152",
                "disease": [
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                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10534",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of lesser curve of stomach",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of greater curve of stomach",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of lesser curve of stomach",
                                "description": ""
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "stomach cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "ca greater curvature of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of body of stomach",
                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                                "description": ""
                            },
                            {
                                "id": "MIM:613659",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613659",
                                "name": "Gastric cancer",
                                "description": "Gastric cancer"
                            }
                        ],
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                            },
                            {
                                "id": "10534",
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                    {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
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                            {
                                "id": "DOID:5041",
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                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "esophagus cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of lower third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Distal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of Proximal Third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "DOID:5041",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:5041",
                                "name": "malignant tumor of the middle Third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "esophageal cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "cancer of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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        ]
    }
}
