{
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                                "id": "MONDO:0009656",
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                "minor_allelic_frequency": "",
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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                            {
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                            {
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                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
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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",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
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                            {
                                "id": "MIM:252920",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
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                        ]
                    },
                    {
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                            "url": "http://disease-ontology.org/term/DOID:0111394",
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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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                            {
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            },
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                "minor_allelic_frequency": "",
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                            {
                                "id": "DOID:0111394",
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                            {
                                "id": "DOID:0111394",
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                            {
                                "id": "DOID:0111394",
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                                "id": "DOID:0111394",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
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                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
                                "description": "Mucopolysaccharidosis 3B"
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                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0009656",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                            },
                            {
                                "id": "252920",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252920"
                            },
                            {
                                "id": "4669",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                            },
                            {
                                "id": "0111394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111394",
                        "recommended_name": {
                            "id": "DOID:0111394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "MPS3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "MPSIIIB",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "N-acetyl-alpha-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "NAGLU deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Sanfilippo syndrome type B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type 3B",
                                "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays."
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS III B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPSIIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-acetyl-alpha-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo syndrome B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo syndrome type B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "NAGLU deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MIM:252920",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
                                "description": "Mucopolysaccharidosis 3B"
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                        ],
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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",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                            }
                        ]
                    }
                ],
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                    "germline",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P54802",
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802"
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                ],
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                "end_pos": 696,
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                "alt_nt": "T",
                "minor_allelic_frequency": "",
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                    {
                        "disease_id": "DOID:4159",
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                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
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                        },
                        "synonyms": [
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    }
                ],
                "keywords": [
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                    "somatic",
                    "cancer",
                    "disease"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "P54802",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802"
                    },
                    {
                        "id": "",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs="
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                ],
                "glycoeffect": [],
                "start_pos": 696,
                "end_pos": 696,
                "subjects_tested": "1704",
                "subjects_positive": "1",
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                "sequence_org": "Q",
                "sequence_mut": "H",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "17",
                "chr_pos": "42544094",
                "ref_nt": "G",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "Q696",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
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                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:5166",
                            "DOID:4114",
                            "DOID:2021",
                            "DOID:9460"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
                            }
                        ]
                    }
                ],
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                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs1466164520",
                        "database": "dbSNP",
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                    },
                    {
                        "id": "rs1466164520",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs1466164520"
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                ],
                "glycoeffect": [],
                "start_pos": 696,
                "end_pos": 696,
                "sequence_org": "Q",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "42544093",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q696",
                "keywords": [
                    "ebi",
                    "germline"
                ]
            },
            {
                "evidence": [
                    {
                        "id": "rs897126193",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs897126193"
                    },
                    {
                        "id": "rs897126193",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs897126193#frequency_tab"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 698,
                "end_pos": 698,
                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "Germline mutation passed 0 out of 0 filters:",
                "chr_id": "17",
                "chr_pos": "42544098",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D698",
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                    {
                        "disease_id": "DOID:0110178",
                        "recommended_name": {
                            "id": "DOID:0110178",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0110178",
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                            "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21."
                        },
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                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "CMT2V",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease axonal type 2V",
                                "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene."
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "CMT2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "NAGLU Charcot-Marie-Tooth disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "hereditary adult-onset painful axonal polyneuropathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy, type 2V",
                                "description": ""
                            },
                            {
                                "id": "MIM:616491",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/616491",
                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
                                "description": "Charcot-Marie-Tooth disease, axonal, type 2V"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "616491",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/616491"
                            },
                            {
                                "id": "0110178",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID: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."
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                        "synonyms": [
                            {
                                "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": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110178",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0110178",
                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease axonal type 2V",
                                "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene."
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "CMT2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "NAGLU Charcot-Marie-Tooth disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
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                                "description": ""
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
                                "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",
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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",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
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                            {
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                            {
                                "id": "252920",
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                            {
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                        ]
                    },
                    {
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
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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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                "minor_allelic_frequency": "",
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                            {
                                "id": "DOID:2531",
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                            },
                            {
                                "id": "DOID:2531",
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                            {
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                            {
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                            {
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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",
                                "resource": "MONDO",
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
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                                "id": "0009656",
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                                "id": "252920",
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                            {
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
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                            {
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                            {
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                        ]
                    },
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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",
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                            {
                                "id": "MONDO:0009656",
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                                "id": "MONDO:0009656",
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                            {
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                                "id": "MONDO:0005575",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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            },
            {
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            },
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                            {
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                                "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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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                            },
                            {
                                "id": "252920",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252920"
                            },
                            {
                                "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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                    }
                ],
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            },
            {
                "evidence": [
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                        "id": "rs1186888836",
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                "end_pos": 71,
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                    {
                        "disease_id": "DOID:0110178",
                        "recommended_name": {
                            "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": "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": "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",
                                "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",
                                "name": "CMT2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "NAGLU Charcot-Marie-Tooth disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
                                "description": ""
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                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/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",
                                "description": ""
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                            {
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                                "resource": "MONDO",
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                                "name": "Charcot-Marie-Tooth neuropathy, type 2V",
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                            },
                            {
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                                "url": "https://www.omim.org/entry/616491",
                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
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                            {
                                "id": "616491",
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                            },
                            {
                                "id": "0110178",
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                        ]
                    },
                    {
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                            "id": "DOID:0111394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
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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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                            },
                            {
                                "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",
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                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            },
                            {
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                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "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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                            },
                            {
                                "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."
                            },
                            {
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                                "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",
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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",
                                "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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                            },
                            {
                                "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": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "NAGLU deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MIM:252920",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
                                "description": "Mucopolysaccharidosis 3B"
                            }
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                        "evidence": [
                            {
                                "id": "0009656",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                            },
                            {
                                "id": "252920",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252920"
                            },
                            {
                                "id": "4669",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/4669#disease"
                            },
                            {
                                "id": "0111394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                            }
                        ]
                    }
                ],
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                    "germline",
                    "disease"
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            },
            {
                "evidence": [
                    {
                        "id": "rs1186888836",
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                "end_pos": 71,
                "sequence_org": "G",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "chr_pos": "42536475GCG",
                "ref_nt": "]",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G71",
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                    "germline"
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            },
            {
                "evidence": [
                    {
                        "id": "P54802",
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                    },
                    {
                        "id": "rs1555622589",
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                ],
                "glycoeffect": [],
                "start_pos": 720,
                "end_pos": 720,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "*",
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                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R720",
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                        "disease_id": "DOID:4159",
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
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                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3451",
                            "DOID:3149"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                        ]
                    },
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": "A malignant neoplasm involving the lung."
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
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                            {
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                            {
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                            {
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                                "id": "MONDO:0009656",
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                                "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",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo syndrome B",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo syndrome type B",
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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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                            {
                                "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:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
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                            },
                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "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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                            {
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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",
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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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                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "sequence_mut": "null",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                                "id": "DOID:0110178",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0014665",
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                                "id": "MONDO:0014665",
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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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                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            {
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                            {
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                            {
                                "id": "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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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease axonal type 2V",
                                "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene."
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "CMT2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "NAGLU Charcot-Marie-Tooth disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "hereditary adult-onset painful axonal polyneuropathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014665",
                                "name": "Charcot-Marie-Tooth neuropathy, type 2V",
                                "description": ""
                            },
                            {
                                "id": "MIM:616491",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/616491",
                                "name": "Charcot-Marie-Tooth disease, axonal, type 2V",
                                "description": "Charcot-Marie-Tooth disease, axonal, type 2V"
                            }
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                                "id": "616491",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/616491"
                            },
                            {
                                "id": "0110178",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110178"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111394",
                        "recommended_name": {
                            "id": "DOID:0111394",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2."
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                            {
                                "id": "DOID:0111394",
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                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                            },
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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",
                                "name": "Mucopolysaccharidosis 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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                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "NAGLU deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "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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                                "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": "MPS III B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPSIIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-acetyl-alpha-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo syndrome B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo syndrome type B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "NAGLU deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MIM:252920",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
                                "description": "Mucopolysaccharidosis 3B"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0009656",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656"
                            },
                            {
                                "id": "252920",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252920"
                            },
                            {
                                "id": "4669",
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                            },
                            {
                                "id": "0111394",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111394"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111394",
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                            "id": "DOID:0111394",
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                            "url": "http://disease-ontology.org/term/DOID:0111394",
                            "name": "mucopolysaccharidosis type IIIB",
                            "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2."
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                            {
                                "id": "DOID:0111394",
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                            {
                                "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",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
                                "name": "Mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111394",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "description": ""
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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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                            {
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                                "resource": "Disease Ontology",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Sanfilippo syndrome type B",
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS IIIB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "Mucopoly-saccharidosis type 3B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "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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                                "url": "https://www.omim.org/entry/252920",
                                "name": "Mucopolysaccharidosis 3B",
                                "description": "Mucopolysaccharidosis 3B"
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                            {
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                            {
                                "id": "4669",
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                            },
                            {
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                                "url": "https://www.alliancegenome.org/disease/DOID:0111394"
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                    }
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            },
            {
                "evidence": [
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                ],
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                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "F",
                "sequence_mut": "C",
                "comment": "All mutations pass selection filters for glycohydrolase proteins.",
                "chr_id": "17",
                "chr_pos": "42544198",
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                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "F731",
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                    {
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                            "url": "http://disease-ontology.org/term/DOID:4159",
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                        },
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:3149"
                        ],
                        "evidence": [
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                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
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                        ]
                    }
                ],
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            },
            {
                "evidence": [
                    {
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                    },
                    {
                        "id": "rs760180817",
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                    },
                    {
                        "id": "rs760180817",
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                ],
                "glycoeffect": [],
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                "sequence_mut": "L",
                "comment": "Germline mutation passed 0 out of 0 filters:",
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                "minor_allelic_frequency": "",
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                            {
                                "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."
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "MPS III B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "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": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB",
                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "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": "252920",
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                                "id": "4669",
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                    },
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                            {
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                            {
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                            {
                                "id": "MONDO:0014665",
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                            {
                                "id": "MONDO:0014665",
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                                "name": "Charcot-Marie-Tooth neuropathy type 2V",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014665",
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                            {
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                                "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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                            {
                                "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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                            {
                                "id": "0110178",
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                    },
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                            "url": "http://disease-ontology.org/term/DOID:0111394",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009656",
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                                "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",
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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",
                                "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",
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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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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type 3B",
                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis, type IIIB",
                                "description": ""
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                            {
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                                "url": "https://www.omim.org/entry/252920",
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                            {
                                "id": "252920",
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                            {
                                "id": "4669",
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                            },
                            {
                                "id": "0111394",
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                "minor_allelic_frequency": "",
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            {
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                    {
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                    {
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                    {
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                "sequence_mut": "L",
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                "minor_allelic_frequency": "",
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                    {
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                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
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                                "description": ""
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                        ]
                    },
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                            "url": "http://disease-ontology.org/term/DOID:0111394",
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            },
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                "minor_allelic_frequency": "",
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                                "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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                                "description": ""
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                            {
                                "id": "MONDO:0009656",
                                "resource": "MONDO",
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                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                                "resource": "MIM",
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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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                            {
                                "id": "MONDO:0009656",
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                            {
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                            {
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                            {
                                "id": "MONDO:0009656",
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                            {
                                "id": "MONDO:0009656",
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                            {
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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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                "chr_pos": "42544215",
                "ref_nt": "C",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "R737",
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                            "resource": "Disease Ontology",
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
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                                "name": "lung cancer",
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                            {
                                "id": "MONDO:0008903",
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                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
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                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
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                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "name": "malignant tumor of lung",
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                            {
                                "id": "MONDO:0008903",
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                            {
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
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                            {
                                "id": "MONDO:0008903",
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                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            },
                            {
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                            {
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                            {
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                            },
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
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                                "resource": "MONDO",
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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",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
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                            },
                            {
                                "id": "MONDO:0009656",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009656",
                                "name": "mucopolysaccharidosis type IIIB",
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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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                            },
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                    "ebi",
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            }
        ]
    }
}