{
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                        ]
                    },
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                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "NAGLU Charcot-Marie-Tooth disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "hereditary adult-onset painful axonal polyneuropathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy, type 2V",
                                "description": ""
                            },
                            {
                                "id": "MIM:616491",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/616491",
                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
                                "description": "Charcot-Marie-Tooth disease, axonal, type 2V"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "616491",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/616491"
                            },
                            {
                                "id": "0110178",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111394",
                        "recommended_name": {
                            "id": "DOID:0111394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "MPS3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "MPSIIIB",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "N-acetyl-alpha-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "NAGLU deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Sanfilippo syndrome type B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type 3B",
                                "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays."
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS III B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPSIIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-acetyl-alpha-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo syndrome B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo syndrome type B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "NAGLU deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MIM:252920",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
                                "description": "Mucopolysaccharidosis 3B"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "0009656",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                            },
                            {
                                "id": "252920",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252920"
                            },
                            {
                                "id": "4669",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                            },
                            {
                                "id": "0111394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                            }
                        ]
                    }
                ],
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                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1354607897",
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                    },
                    {
                        "id": "rs1354607897",
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                ],
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                "end_pos": 143,
                "sequence_org": "V",
                "sequence_mut": "G",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "42537442",
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                "minor_allelic_frequency": "",
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                    "germline"
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            },
            {
                "evidence": [
                    {
                        "id": "P54802",
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802"
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                    {
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                    },
                    {
                        "id": "rs1367528849",
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                ],
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                "subjects_tested": "720",
                "subjects_positive": "1",
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                "sequence_mut": "M",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "alt_nt": "A",
                "minor_allelic_frequency": "",
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                    {
                        "disease_id": "DOID:10534",
                        "recommended_name": {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
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                            "description": "A gastrointestinal system cancer that is located_in the stomach."
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                        "synonyms": [
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10534",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:10534",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10534",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the stomach."
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca lesser curvature - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "GC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "cancer of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer risk after h. pylori infection",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant gastric tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant stomach neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of greater curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of lesser curve of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumour of the stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "stomach cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "Ca body - stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "ca greater curvature of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant neoplasm of body of stomach",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "gastric cancer, intestinal",
                                "description": ""
                            },
                            {
                                "id": "MIM:613659",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613659",
                                "name": "Gastric cancer",
                                "description": "Gastric cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10534",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
                            },
                            {
                                "id": "10534",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10534"
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                        ]
                    }
                ],
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                    "biomuta",
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                    "cancer",
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                    "ebi",
                    "germline"
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            },
            {
                "evidence": [
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                    {
                        "id": "rs748042028",
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                    },
                    {
                        "id": "rs748042028",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs748042028#frequency_tab"
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                    {
                        "id": "rs748042028",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs748042028"
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                        "id": "rs2510652118",
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                ],
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                "end_pos": 144,
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "subjects_positive": "1",
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "minor_allelic_frequency": "",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MIM:252920",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
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                            }
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                            },
                            {
                                "id": "252920",
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                                "url": "https://www.omim.org/entry/252920"
                            },
                            {
                                "id": "4669",
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                            },
                            {
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                            }
                        ]
                    },
                    {
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                        "recommended_name": {
                            "id": "DOID:0111394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2."
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                                "id": "DOID:0111394",
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                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            },
                            {
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                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Sanfilippo syndrome type B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            },
                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
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                                "description": "Mucopolysaccharidosis 3B"
                            }
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                                "id": "0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
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                            {
                                "id": "252920",
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                                "url": "https://www.omim.org/entry/252920"
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                            {
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                            {
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                "end_pos": 147,
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
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                            {
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                                "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",
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                            {
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                                "description": ""
                            },
                            {
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
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                                "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",
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                            },
                            {
                                "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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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "Nonsmall cell lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "alveolar cell carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
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                                "id": "1324",
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                                "url": "https://www.omim.org/entry/252920",
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                            {
                                "id": "252920",
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                            {
                                "id": "4669",
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                        ]
                    },
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                            {
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                            {
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                            {
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                            {
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                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-acetyl-alpha-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
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                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0014665",
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                            {
                                "id": "MONDO:0014665",
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                            {
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                            {
                                "id": "MONDO:0014665",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                                "id": "MONDO:0009656",
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
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                                "description": ""
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                            {
                                "id": "MONDO:0014665",
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0014665",
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                                "id": "MONDO:0014665",
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                            {
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                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
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                                "id": "MONDO:0014665",
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                            {
                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
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                            {
                                "id": "DOID:0111394",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MIM:252920",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
                                "description": "Mucopolysaccharidosis 3B"
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                        "evidence": [
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                            },
                            {
                                "id": "252920",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252920"
                            },
                            {
                                "id": "4669",
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                            },
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                            }
                        ]
                    },
                    {
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                            "id": "DOID:0111394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2."
                        },
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                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "N-acetyl-alpha-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "NAGLU deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
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                            },
                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
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                                "description": ""
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                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
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            {
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                "end_pos": 151,
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                "subjects_positive": "1",
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "alt_nt": "T",
                "minor_allelic_frequency": "",
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                            {
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                            {
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                                "url": "http://disease-ontology.org/term/DOID:363",
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                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                                "description": ""
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                        ],
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                            "DOID:4114",
                            "DOID:2021",
                            "DOID:9460"
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                                "id": "DOID:0110178",
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                            {
                                "id": "DOID:0110178",
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                            },
                            {
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "NAGLU Charcot-Marie-Tooth disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "hereditary adult-onset painful axonal polyneuropathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy, type 2V",
                                "description": ""
                            },
                            {
                                "id": "MIM:616491",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/616491",
                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
                                "description": "Charcot-Marie-Tooth disease, axonal, type 2V"
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                                "id": "616491",
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                            {
                                "id": "0110178",
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                                "url": "https://www.alliancegenome.org/disease/DOID:0110178"
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                        ]
                    },
                    {
                        "disease_id": "DOID:0110178",
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                            "id": "DOID:0110178",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21."
                        },
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
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                                "name": "CMT2V",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease axonal type 2V",
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "CMT2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "NAGLU Charcot-Marie-Tooth disease",
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                            },
                            {
                                "id": "MONDO:0014665",
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                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
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                            {
                                "id": "MONDO:0014665",
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                            {
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                                "description": ""
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                            {
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                            {
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                                "id": "MONDO:0009656",
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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            {
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                "ref_nt": "T",
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                "minor_allelic_frequency": "",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "NAGLU deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Sanfilippo syndrome type B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type 3B",
                                "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays."
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS III B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPSIIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-acetyl-alpha-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MIM:252920",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
                                "description": "Mucopolysaccharidosis 3B"
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                            },
                            {
                                "id": "252920",
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                                "url": "https://www.omim.org/entry/252920"
                            },
                            {
                                "id": "4669",
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                            },
                            {
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                            }
                        ]
                    },
                    {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
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                        },
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                            {
                                "id": "DOID:0111394",
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                                "resource": "Disease Ontology",
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                            },
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "description": ""
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
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                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Sanfilippo syndrome type B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "description": ""
                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            },
                            {
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                            },
                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type 3B",
                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
                                "description": "Mucopolysaccharidosis 3B"
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                    "ebi",
                    "germline",
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            },
            {
                "evidence": [
                    {
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802"
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                    },
                    {
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                    },
                    {
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                    {
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                ],
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                "start_pos": 152,
                "end_pos": 152,
                "subjects_tested": "2003",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "17",
                "chr_pos": "42537469",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R152",
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                    {
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
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                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
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                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "Resectable malignant neoplasm of Liver",
                                "description": ""
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                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
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                            {
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                                "id": "DOID:3571",
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                            {
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                                "url": "http://disease-ontology.org/term/DOID:3571",
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                            {
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                                "url": "http://disease-ontology.org/term/DOID:3571",
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                                "description": ""
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                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
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                                "description": ""
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                            {
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                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary liver cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
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                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
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                                "name": "malignant neoplasm of liver, not specified as primary or secondary",
                                "description": ""
                            }
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                    },
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                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
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                                "url": "http://disease-ontology.org/term/DOID:0110178",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease axonal type 2V",
                                "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene."
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "CMT2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "NAGLU Charcot-Marie-Tooth disease",
                                "description": ""
                            },
                            {
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                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
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                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Sanfilippo syndrome type B",
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                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
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            {
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                "end_pos": 153,
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                "minor_allelic_frequency": "",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MIM:252920",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
                                "description": "Mucopolysaccharidosis 3B"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0009656",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                            },
                            {
                                "id": "252920",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252920"
                            },
                            {
                                "id": "4669",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                            },
                            {
                                "id": "0111394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111394",
                        "recommended_name": {
                            "id": "DOID:0111394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "MPS3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "MPSIIIB",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "N-acetyl-alpha-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "NAGLU deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Sanfilippo syndrome type B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type 3B",
                                "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays."
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS III B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPSIIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-acetyl-alpha-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo syndrome B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo syndrome type B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "NAGLU deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MIM:252920",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
                                "description": "Mucopolysaccharidosis 3B"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0009656",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                            },
                            {
                                "id": "252920",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252920"
                            },
                            {
                                "id": "4669",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                            },
                            {
                                "id": "0111394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P54802",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802"
                    },
                    {
                        "id": "rs1352416909",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1352416909"
                    },
                    {
                        "id": "rs1352416909",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1352416909#frequency_tab"
                    },
                    {
                        "id": "rs1352416909",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1352416909"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 153,
                "end_pos": 153,
                "subjects_tested": "589",
                "subjects_positive": "1",
                "frequency": "0.2",
                "sequence_org": "E",
                "sequence_mut": "K",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "17",
                "chr_pos": "42537471",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "E153",
                "disease": [
                    {
                        "disease_id": "DOID:2394",
                        "recommended_name": {
                            "id": "DOID:2394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2394",
                            "name": "ovarian cancer",
                            "description": "A female reproductive organ cancer that is located_in the ovary."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant Ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:2394",
                                "name": "tumor of the Ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "cancer of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovary cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, epithelial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "primary ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "OVCAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                                "name": "ovarian cancer, susceptibility to, 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:167000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/167000",
                                "name": "Ovarian cancer",
                                "description": "Ovarian cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:2151"
                        ],
                        "evidence": [
                            {
                                "id": "2394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2394"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0110178",
                        "recommended_name": {
                            "id": "DOID:0110178",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "CMT2V",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease axonal type 2V",
                                "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene."
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "CMT2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "NAGLU Charcot-Marie-Tooth disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
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                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "MPS3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "MPSIIIB",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            {
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
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                                "description": ""
                            },
                            {
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "description": ""
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                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            },
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                                "id": "DOID:0111394",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type 3B",
                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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            },
            {
                "evidence": [
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                "subjects_tested": "589",
                "subjects_positive": "1",
                "frequency": "0.2",
                "sequence_org": "E",
                "sequence_mut": "V",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "17",
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                "ref_nt": "A",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "E153",
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                            },
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                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
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                            {
                                "id": "DOID:2394",
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                            {
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                                "description": ""
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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:0008170",
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                                "description": ""
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of ovary",
                                "description": ""
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant neoplasm of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovarian tumor",
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                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                                "name": "malignant ovarian tumour",
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                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant ovary neoplasm",
                                "description": ""
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                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
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                                "name": "malignant tumor of ovary",
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                            {
                                "id": "MONDO:0008170",
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                                "name": "malignant tumor of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "malignant tumour of the ovary",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008170",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                                "name": "ovarian malignant tumor",
                                "description": ""
                            },
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                                "id": "MONDO:0009656",
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                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
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                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "id": "DOID:0111394",
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                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
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                            {
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                            {
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                                "id": "MONDO:0014665",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                "minor_allelic_frequency": "",
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                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
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                                "id": "MONDO:0014665",
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                            {
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                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
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                                "id": "MONDO:0014665",
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                            {
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                            {
                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
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                            {
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                            {
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
                                "description": ""
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                                "name": "Charcot-Marie-Tooth neuropathy, type 2V",
                                "description": ""
                            },
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                                "url": "https://www.omim.org/entry/616491",
                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
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                        ]
                    },
                    {
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                            },
                            {
                                "id": "DOID:0111394",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
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                            },
                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                                "url": "https://www.omim.org/entry/252920",
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            },
            {
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                            {
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                            {
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                            {
                                "id": "DOID:0111394",
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                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            {
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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            {
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                            {
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                            {
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                                "id": "MONDO:0014665",
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                            {
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                            {
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                            "url": "http://disease-ontology.org/term/DOID:0110178",
                            "name": "Charcot-Marie-Tooth disease axonal type 2V",
                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21."
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                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
                                "description": ""
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                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "CMT2V",
                                "description": ""
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                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
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                            {
                                "id": "DOID:0110178",
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                                "url": "http://disease-ontology.org/term/DOID:0110178",
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                                "id": "MONDO:0014665",
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                                "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene."
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                                "name": "CMT2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "NAGLU Charcot-Marie-Tooth disease",
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                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0014665",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
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                            {
                                "id": "MONDO:0014665",
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                            {
                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
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                            {
                                "id": "252920",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009656",
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            {
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                "chr_id": "17",
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                "minor_allelic_frequency": "",
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                    },
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                                "description": ""
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                                "resource": "MIM",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
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                                "id": "252920",
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                            },
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                                "id": "4669",
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                        ]
                    },
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                            "id": "DOID:0111394",
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                            "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
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                            {
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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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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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "name": "malignant tumor of the large intestine",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer",
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                            },
                            {
                                "id": "MONDO:0005575",
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                                "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            }
                        ],
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            {
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                "end_pos": 170,
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                        "disease_id": "DOID:0110178",
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                            "id": "DOID:0110178",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
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                                "description": ""
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                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:0110178",
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                            {
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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": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
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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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                                "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: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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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "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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                                "description": ""
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                            {
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                                "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",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
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                                "description": ""
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                            {
                                "id": "MONDO:0013631",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0014665",
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
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                    "disease"
                ]
            }
        ]
    }
}
