{
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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                                "name": "Mucopoly-saccharidosis type 3B",
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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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                            {
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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",
                                "resource": "MONDO",
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                            {
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            },
            {
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "minor_allelic_frequency": "",
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                            {
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                            {
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                                "description": ""
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                            {
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                            {
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                            {
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                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                            "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",
                                "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": ""
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                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
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                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopolysaccharidosis type 3B",
                                "description": ""
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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",
                                "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",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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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",
                                "resource": "MONDO",
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                                "description": ""
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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",
                                "resource": "MONDO",
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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",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/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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                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
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                                "resource": "MIM",
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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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                            {
                                "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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                            {
                                "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",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                    "germline"
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            },
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                            {
                                "id": "DOID:4159",
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                            {
                                "id": "DOID:4159",
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                                "url": "http://disease-ontology.org/term/DOID:4159",
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                "glycoeffect": [],
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
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                            "id": "DOID:0110178",
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                            "url": "http://disease-ontology.org/term/DOID:0110178",
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "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",
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                                "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",
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                            {
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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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                            {
                                "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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                            {
                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
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                            {
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                                "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)",
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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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                                "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": "N-acetyl-alpha-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",
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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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
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                            },
                            {
                                "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": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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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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                                "url": "https://www.omim.org/entry/252920",
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                            },
                            {
                                "id": "252920",
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                        ]
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                            "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "id": "DOID:0111394",
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
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                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopolysaccharidosis type 3B",
                                "description": ""
                            },
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                                "id": "DOID:0111394",
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                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
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                                "name": "Sanfilippo syndrome type B",
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                                "resource": "Disease Ontology",
                                "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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                                "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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                            },
                            {
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                            {
                                "id": "MONDO:0009656",
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                            },
                            {
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                                "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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                                "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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                            {
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                            {
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                                "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",
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                                "resource": "MONDO",
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                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "V369",
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                            "resource": "Disease Ontology",
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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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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
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                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
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                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
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                                "description": ""
                            },
                            {
                                "id": "DOID:10283",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:10283",
                                "name": "tumor of the prostate",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer, hereditary, X-linked 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010257",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                                "name": "prostate cancer susceptibility, X-linked",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "prostate cancer, hereditary, X-linked 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010405",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                                "name": "prostate cancer, hereditary, X-linked 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "RNASEL familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "familial prostate cancer caused by mutation in RNASEL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "prostate cancer, hereditary, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "HPC1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011098",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                                "name": "Prca1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, hereditary, type 8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "HPC8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "predisposing for prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011270",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                                "name": "prostate cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, hereditary, type 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "prostate cancer, susceptibility to, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012093",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                                "name": "HPC3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, susceptibility to, 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "HPC4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012094",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                                "name": "prostate cancer, hereditary, on chromosome 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "prostate cancer, hereditary, type 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012244",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                                "name": "HPC5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, hereditary, type 6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "HPC6",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012300",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                                "name": "prostate cancer, susceptibility to",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "HPC7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer aggressiveness",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, type 9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "HPC9",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "HPC10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "EHBP1 familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "familial prostate cancer caused by mutation in EHBP1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "prostate cancer, hereditary, type 12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                                "name": "HPC12",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "MSMB familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "familial prostate cancer caused by mutation in MSMB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, type 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "HPC13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "HPC11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "HPC14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "HPC15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0700275",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0700275",
                                "name": "prostate cancer, hereditary",
                                "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents."
                            },
                            {
                                "id": "MIM:601518",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/601518",
                                "name": "Prostate cancer, hereditary, 1",
                                "description": "Prostate cancer, hereditary, 1"
                            },
                            {
                                "id": "MIM:610997",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610997",
                                "name": "Prostate cancer, hereditary, 9",
                                "description": "Prostate cancer, hereditary, 9"
                            },
                            {
                                "id": "MIM:611868",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611868",
                                "name": "Prostate cancer, hereditary, 12",
                                "description": "Prostate cancer, hereditary, 12"
                            },
                            {
                                "id": "MIM:611928",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611928",
                                "name": "Prostate cancer, hereditary, 13",
                                "description": "Prostate cancer, hereditary, 13"
                            },
                            {
                                "id": "MIM:611955",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611955",
                                "name": "Prostate cancer, hereditary, 11",
                                "description": "Prostate cancer, hereditary, 11"
                            },
                            {
                                "id": "MIM:176807",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/176807",
                                "name": "Prostate cancer",
                                "description": "Prostate cancer"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10283",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10283"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P54802",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 370,
                "end_pos": 370,
                "subjects_tested": "2617",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "L",
                "sequence_mut": "M",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "17",
                "chr_pos": "42543114",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "L370",
                "disease": [
                    {
                        "disease_id": "DOID:1793",
                        "recommended_name": {
                            "id": "DOID:1793",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1793",
                            "name": "pancreatic cancer",
                            "description": "An endocrine gland cancer located_in the pancreas."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "Ca body of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "Ca head of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "Ca tail of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of body of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of head of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "malignant neoplasm of tail of pancreas",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreas neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1793",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1793",
                                "name": "pancreatic tumor",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1795"
                        ],
                        "evidence": [
                            {
                                "id": "1793",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1793"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2510658889",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510658889"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 371,
                "end_pos": 371,
                "sequence_org": "G",
                "sequence_mut": "E",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "17",
                "chr_pos": "42543118",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G371",
                "disease": [
                    {
                        "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",
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                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
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                            {
                                "id": "MONDO:0014665",
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
                                "description": ""
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                            {
                                "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": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
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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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                                "id": "MONDO:0014665",
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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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                "end_pos": 374,
                "sequence_org": "P",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "42543126",
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                "minor_allelic_frequency": "",
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            {
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                    {
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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                            {
                                "id": "MONDO:0001187",
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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:0012942",
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
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                                "description": ""
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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:0005575",
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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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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                            {
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                                "resource": "MONDO",
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                    {
                        "disease_id": "DOID:0110178",
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                                "description": ""
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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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                            {
                                "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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                                "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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                                "name": "N-acetyl-alpha-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
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                                "name": "NAGLU deficiency",
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                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
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                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
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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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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
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                            {
                                "id": "MONDO:0014665",
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                                "description": ""
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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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                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                                "description": ""
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                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
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                                "resource": "MONDO",
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                            },
                            {
                                "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",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type 3B",
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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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                            {
                                "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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                                "resource": "MONDO",
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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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                                "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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                            {
                                "id": "MONDO:0014665",
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                            {
                                "id": "MONDO:0014665",
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                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
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                            {
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                                "name": "Mucopoly-saccharidosis type 3B",
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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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                            {
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                            {
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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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": "alveolar cell carcinoma",
                                "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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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            },
                            {
                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "adenocarcinoma of lung, susceptibility to",
                                "description": ""
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                            {
                                "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": ""
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                            {
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                                "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",
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                                "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",
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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": ""
                            },
                            {
                                "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",
                                "name": "mucopolysaccharidosis, type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
                            },
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
                                "description": "Mucopolysaccharidosis 3B"
                            }
                        ],
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                            },
                            {
                                "id": "252920",
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                            },
                            {
                                "id": "4669",
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                                "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                            },
                            {
                                "id": "0111394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                            }
                        ]
                    }
                ],
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            },
            {
                "evidence": [
                    {
                        "id": "rs2143108228",
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                ],
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                                "id": "DOID:0110178",
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                                "url": "http://disease-ontology.org/term/DOID:0110178",
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                            {
                                "id": "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",
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                            },
                            {
                                "id": "DOID:0110178",
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                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
                                "description": ""
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                            {
                                "id": "MONDO:0014665",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
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                                "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",
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                            },
                            {
                                "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",
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                            {
                                "id": "MONDO:0014665",
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
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                            {
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                                "resource": "MONDO",
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                                "name": "Charcot-Marie-Tooth neuropathy, type 2V",
                                "description": ""
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                            {
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                            {
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                        ]
                    },
                    {
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                            "url": "http://disease-ontology.org/term/DOID:0111394",
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                            {
                                "id": "DOID:0111394",
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                            {
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                                "id": "DOID:0111394",
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                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopoly-saccharidosis type 3B",
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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",
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                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
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                                "name": "NAGLU deficiency",
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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",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
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                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "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."
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                            {
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                                "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",
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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",
                                "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": "Sanfilippo syndrome type B",
                                "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",
                                "name": "mucopolysaccharidosis type IIIB",
                                "description": ""
                            },
                            {
                                "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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                            },
                            {
                                "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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                                "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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                                "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": [
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                                "id": "0009656",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                            },
                            {
                                "id": "252920",
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                            {
                                "id": "4669",
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                            },
                            {
                                "id": "0111394",
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                            }
                        ]
                    }
                ],
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                    "disease"
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            },
            {
                "evidence": [
                    {
                        "id": "P54802",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802"
                    },
                    {
                        "id": "rs1272515676",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1272515676"
                    },
                    {
                        "id": "rs1272515676",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs1272515676#frequency_tab"
                    },
                    {
                        "id": "rs1272515676",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1272515676"
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                ],
                "glycoeffect": [],
                "start_pos": 393,
                "end_pos": 393,
                "subjects_tested": "606",
                "subjects_positive": "1",
                "frequency": "0.2",
                "sequence_org": "R",
                "sequence_mut": "C",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "17",
                "chr_pos": "42543183",
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                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R393",
                "disease": [
                    {
                        "disease_id": "DOID:1781",
                        "recommended_name": {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid cancer",
                            "description": "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage."
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "description": ""
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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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                            {
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            },
            {
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "minor_allelic_frequency": "",
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                            {
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                            {
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                            {
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
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                            },
                            {
                                "id": "MONDO:0008903",
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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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                                "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",
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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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                            {
                                "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",
                                "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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                            "id": "DOID:0111394",
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                            "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "url": "http://disease-ontology.org/term/DOID:0111394",
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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",
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                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "id": "DOID:0111394",
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                                "resource": "Disease Ontology",
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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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                                "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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                            {
                                "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",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/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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                                "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",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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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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                    {
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                ],
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                    "germline"
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            },
            {
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                    {
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                "sequence_org": "A",
                "sequence_mut": "S",
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                "chr_pos": "42536279",
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                                "id": "MONDO:0014665",
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                            {
                                "id": "MONDO:0014665",
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                            {
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                            {
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0014665",
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                            {
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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",
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
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                            {
                                "id": "MONDO:0014665",
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                            {
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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",
                                "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",
                                "description": "Mucopolysaccharidosis 3B"
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                        ],
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
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                            {
                                "id": "252920",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252920"
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                            {
                                "id": "4669",
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                                "id": "0111394",
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                        ]
                    }
                ],
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            },
            {
                "evidence": [
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                ],
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                    {
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                            {
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                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
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                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
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                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
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                ],
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                    "somatic",
                    "cancer",
                    "disease"
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            },
            {
                "evidence": [
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                        "id": "rs780376108",
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                    {
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                            "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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                            {
                                "id": "DOID:0110178",
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                                "description": ""
                            },
                            {
                                "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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                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
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                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
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                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
                                "description": ""
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                            {
                                "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",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
                                "description": ""
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
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                            {
                                "id": "MONDO:0014665",
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                            {
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                            {
                                "id": "0110178",
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                            "url": "http://disease-ontology.org/term/DOID:0111394",
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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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                            {
                                "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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                            {
                                "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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                                "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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                            {
                                "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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                                "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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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "id": "0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
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                            {
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                            {
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                            {
                                "id": "0111394",
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                        ]
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                ],
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            },
            {
                "evidence": [
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                    {
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            },
            {
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                ],
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                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "alt_nt": "T",
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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",
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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",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant hepato-biliary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant tumor of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "non-resectable primary hepatic malignant neoplasm",
                                "description": ""
                            },
                            {
                                "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",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "primary malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "resectable malignant neoplasm of the liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, not specified as primary or secondary",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "3571",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3571"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs2510649903",
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                ],
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                "end_pos": 40,
                "sequence_org": "L",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "42536391",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L40",
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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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                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "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",
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                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
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                            {
                                "id": "MONDO:0014665",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
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                            {
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                                "resource": "MONDO",
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                                "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",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
                                "description": ""
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
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                            {
                                "id": "MONDO:0014665",
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                            },
                            {
                                "id": "MONDO:0014665",
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                                "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V",
                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "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": ""
                            },
                            {
                                "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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                        "evidence": [
                            {
                                "id": "616491",
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                                "url": "https://www.omim.org/entry/616491"
                            },
                            {
                                "id": "0110178",
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                                "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",
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                                "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": "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)",
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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": ""
                            },
                            {
                                "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",
                                "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": [
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                                "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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                    "disease"
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            },
            {
                "evidence": [
                    {
                        "id": "P54802",
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                    },
                    {
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                    {
                        "id": "rs574688121",
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                    {
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                    {
                        "id": "rs574688121",
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                ],
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                "end_pos": 410,
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                "subjects_positive": "1",
                "frequency": "0.1",
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                "sequence_mut": "S",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
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                "minor_allelic_frequency": "",
                "site_lbl": "F410",
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                        "disease_id": "DOID:363",
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                            "resource": "Disease Ontology",
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                                "url": "http://disease-ontology.org/term/DOID:363",
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                                "description": ""
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                            {
                                "id": "DOID:363",
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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",
                                "url": "http://disease-ontology.org/term/DOID:363",
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                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
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                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:4114",
                            "DOID:2021",
                            "DOID:9460"
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                    {
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                            {
                                "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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                                "description": ""
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                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
                                "description": ""
                            },
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
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                                "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",
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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": ""
                            },
                            {
                                "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",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "name": "Mucopoly-saccharidosis type 3B",
                                "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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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
                            },
                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
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                                "description": "Mucopolysaccharidosis 3B"
                            }
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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",
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                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "MPS3B",
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                            },
                            {
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                                "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",
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                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
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                                "name": "Mucopolysaccharidosis type 3B",
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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",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "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",
                                "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."
                            },
                            {
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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",
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                            },
                            {
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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": "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": "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",
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                            },
                            {
                                "id": "0111394",
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                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ]
            }
        ]
    }
}
