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                                "name": "beta galactocerebrosidase deficiency",
                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "diffuse globoid body sclerosis",
                                "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": "galactosylceramidase deficiency",
                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "description": ""
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                                "description": ""
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                                "id": "MONDO:0009499",
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                            {
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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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                                "id": "MIM:245200",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/245200",
                                "name": "Krabbe disease",
                                "description": "Krabbe disease"
                            }
                        ],
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                            {
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                    },
                    {
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                            },
                            {
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                                "resource": "Disease Ontology",
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                            },
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                                "description": ""
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                                "id": "DOID:10587",
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                            {
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                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
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                            },
                            {
                                "id": "DOID:10587",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10587",
                                "name": "globoid cell leukodystrophy",
                                "description": ""
                            },
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                                "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",
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                            },
                            {
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                                "description": ""
                            },
                            {
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                                "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": "beta galactocerebrosidase deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                                "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": ""
                            },
                            {
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                                "resource": "MONDO",
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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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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                            {
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                "minor_allelic_frequency": "",
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                            {
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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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                            {
                                "id": "MONDO:0007576",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                                "description": ""
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                            {
                                "id": "MONDO:0007576",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                                "description": ""
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of oesophagus",
                                "description": ""
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third esophagus",
                                "description": ""
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of distal third of esophagus",
                                "description": ""
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                            {
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                                "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": ""
                            },
                            {
                                "id": "MIM:245200",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/245200",
                                "name": "Krabbe disease",
                                "description": "Krabbe disease"
                            }
                        ],
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                            {
                                "id": "10587",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10587"
                            }
                        ]
                    }
                ],
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                    "disease"
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            },
            {
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                    {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
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                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
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                            "DOID:3149"
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                                "database": "AGR",
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            {
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                        "id": "",
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                    {
                        "id": "",
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                ],
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                                "resource": "MONDO",
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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": ""
                            },
                            {
                                "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",
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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",
                                "name": "malignant lung tumour",
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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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                            {
                                "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",
                                "name": "malignant tumour of the lung",
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                            {
                                "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",
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                                "description": ""
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                            {
                                "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",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
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                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "description": ""
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
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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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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                                "description": ""
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
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                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                                "description": ""
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            {
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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": "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": ""
                            },
                            {
                                "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",
                                "name": "beta galactocerebrosidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "diffuse globoid body sclerosis",
                                "description": ""
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                            {
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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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Krabbe leukodystrophy",
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                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
                                "id": "MIM:245200",
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                                "name": "Krabbe disease",
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                            {
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                            {
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                            {
                                "id": "DOID:1612",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0016419",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0016419",
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                            {
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0016419",
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0009499",
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                            {
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                            {
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                            {
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                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009499",
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                            {
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                                "description": ""
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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",
                                "name": "Leukodystrophy, Krabbe's",
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                            {
                                "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",
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                            },
                            {
                                "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",
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                                "description": ""
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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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                                "description": ""
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                            {
                                "id": "MONDO:0009499",
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                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "later-onset Krabbe disease",
                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "GLD",
                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Krabbe leukodystrophy",
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                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
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                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
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                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
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                                "description": ""
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                                "name": "breast cancer, somatic",
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                            {
                                "id": "MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0016419",
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0016419",
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                            {
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                            {
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                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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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",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "galactosylceramidase deficiency",
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                                "id": "MONDO:0009499",
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                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                                "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": ""
                            },
                            {
                                "id": "MIM:245200",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/245200",
                                "name": "Krabbe disease",
                                "description": "Krabbe disease"
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                        ],
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                                "id": "10587",
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                        ]
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                ],
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                    "germline",
                    "disease"
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            },
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                    {
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                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1288442454"
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                ],
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                "end_pos": 601,
                "sequence_org": "A",
                "sequence_mut": "E",
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                "chr_pos": "87941427",
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                "keywords": [
                    "ebi",
                    "germline"
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            },
            {
                "evidence": [
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                    {
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                    {
                        "id": "rs189385102",
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                    },
                    {
                        "id": "rs189385102",
                        "database": "gnomAD",
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                    "germline"
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            },
            {
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                    {
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                ],
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "87941427",
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                "minor_allelic_frequency": "",
                "site_lbl": "A601",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2139941292",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2139941292"
                    },
                    {
                        "id": "rs2139941292",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs2139941292"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss"
                ],
                "start_pos": 602,
                "end_pos": 602,
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "87941424",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N602",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P54803",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54803"
                    },
                    {
                        "id": "rs752664357",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs752664357",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752664357"
                    },
                    {
                        "id": "rs752664357",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs752664357"
                    },
                    {
                        "id": "rs752664357",
                        "database": "COSMIC",
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                ],
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "minor_allelic_frequency": "",
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                    {
                        "disease_id": "DOID:1324",
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                            "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "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",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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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",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            },
                            {
                                "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",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            },
                            {
                                "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",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "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",
                                "name": "adenocarcinoma of lung, susceptibility to",
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "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",
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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",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
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                                "name": "Lung cancer",
                                "description": "Lung cancer"
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                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
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            },
            {
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                    {
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                ],
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                "end_pos": 604,
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            },
            {
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                    {
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                    {
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                        ],
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            },
            {
                "evidence": [
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                            "name": "Krabbe disease",
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                                "description": ""
                            },
                            {
                                "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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                                "description": ""
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                                "id": "DOID:10587",
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                                "url": "http://disease-ontology.org/term/DOID:10587",
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                                "description": ""
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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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                                "description": ""
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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": "MONDO:0009499",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
                                "name": "Krabbe disease",
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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": "GALC enzyme deficiency",
                                "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",
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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",
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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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                                "description": ""
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                                "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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                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                                "id": "MONDO:0009499",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                            {
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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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",
                                "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",
                                "name": "malignant tumour of the lung",
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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",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                                "id": "MONDO:0009499",
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                                "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",
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                            {
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                                "resource": "MIM",
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                        ],
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                    {
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs929215561"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 607,
                "end_pos": 607,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
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                "sequence_mut": "F",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "chr_pos": "87941410",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "V607",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "resource": "MONDO",
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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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                            {
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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",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
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                                "resource": "MONDO",
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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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                                "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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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
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                            },
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                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
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                            {
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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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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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                                "name": "galactosylceramidase deficiency",
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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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                                "description": ""
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                            {
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                                "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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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                                "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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                                "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",
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                                "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"
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                        ],
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                            {
                                "id": "10587",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10587"
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                        ]
                    },
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                            {
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                            {
                                "id": "DOID:10587",
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                            {
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                            {
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                            {
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                            {
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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",
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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",
                                "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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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009499",
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                            {
                                "id": "MONDO:0009499",
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                ],
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                    "disease"
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            },
            {
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                    {
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                    "germline"
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            },
            {
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                    {
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                ],
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                "chr_pos": "87939974",
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            },
            {
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                    {
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            },
            {
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                            {
                                "id": "DOID:4159",
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                            {
                                "id": "DOID:4159",
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                                "url": "http://disease-ontology.org/term/DOID:4159",
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                        ],
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                            "DOID:3149"
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                                "id": "4159",
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                        ]
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            },
            {
                "evidence": [
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                            {
                                "id": "DOID:2531",
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                            {
                                "id": "DOID:2531",
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                            {
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                            {
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                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
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                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
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                            "DOID:7757",
                            "DOID:706",
                            "DOID:0050743",
                            "DOID:6536",
                            "DOID:1039",
                            "DOID:1036",
                            "DOID:0081452",
                            "DOID:4960",
                            "DOID:5772",
                            "DOID:5604",
                            "DOID:8527"
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                        ]
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            },
            {
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                    {
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                        "database": "COSMIC",
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                "subjects_tested": "4799",
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                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
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                                "id": "MONDO:0008903",
                                "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",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "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": ""
                            },
                            {
                                "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",
                                "url": "https://www.alliancegenome.org/disease/DOID:10587"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            }
        ]
    }
}
